Albinism - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References

ALBINISM A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES J AMES N. P...

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ALBINISM A M EDICAL D ICTIONARY , B IBLIOGRAPHY , AND A NNOTATED R ESEARCH G UIDE TO I NTERNET R E FERENCES

J AMES N. P ARKER , M.D. AND P HILIP M. P ARKER , P H .D., E DITORS

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ICON Health Publications ICON Group International, Inc. 4370 La Jolla Village Drive, 4th Floor San Diego, CA 92122 USA Copyright 2003 by ICON Group International, Inc. Copyright 2003 by ICON Group International, Inc. All rights reserved. This book is protected by copyright. No part of it may be reproduced, stored in a retrieval system, or transmitted in any form or by any means, electronic, mechanical, photocopying, recording, or otherwise, without written permission from the publisher. Printed in the United States of America. Last digit indicates print number: 10 9 8 7 6 4 5 3 2 1

Publisher, Health Care: Philip Parker, Ph.D. Editor(s): James Parker, M.D., Philip Parker, Ph.D. Publisher's note: The ideas, procedures, and suggestions contained in this book are not intended for the diagnosis or treatment of a health problem. As new medical or scientific information becomes available from academic and clinical research, recommended treatments and drug therapies may undergo changes. The authors, editors, and publisher have attempted to make the information in this book up to date and accurate in accord with accepted standards at the time of publication. The authors, editors, and publisher are not responsible for errors or omissions or for consequences from application of the book, and make no warranty, expressed or implied, in regard to the contents of this book. Any practice described in this book should be applied by the reader in accordance with professional standards of care used in regard to the unique circumstances that may apply in each situation. The reader is advised to always check product information (package inserts) for changes and new information regarding dosage and contraindications before prescribing any drug or pharmacological product. Caution is especially urged when using new or infrequently ordered drugs, herbal remedies, vitamins and supplements, alternative therapies, complementary therapies and medicines, and integrative medical treatments. Cataloging-in-Publication Data Parker, James N., 1961Parker, Philip M., 1960Albinism: A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References / James N. Parker and Philip M. Parker, editors p. cm. Includes bibliographical references, glossary, and index. ISBN: 0-597-83684-1 1. Albinism-Popular works. I. Title.

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Disclaimer This publication is not intended to be used for the diagnosis or treatment of a health problem. It is sold with the understanding that the publisher, editors, and authors are not engaging in the rendering of medical, psychological, financial, legal, or other professional services. References to any entity, product, service, or source of information that may be contained in this publication should not be considered an endorsement, either direct or implied, by the publisher, editors, or authors. ICON Group International, Inc., the editors, and the authors are not responsible for the content of any Web pages or publications referenced in this publication.

Copyright Notice If a physician wishes to copy limited passages from this book for patient use, this right is automatically granted without written permission from ICON Group International, Inc. (ICON Group). However, all of ICON Group publications have copyrights. With exception to the above, copying our publications in whole or in part, for whatever reason, is a violation of copyright laws and can lead to penalties and fines. Should you want to copy tables, graphs, or other materials, please contact us to request permission (E-mail: [email protected]). ICON Group often grants permission for very limited reproduction of our publications for internal use, press releases, and academic research. Such reproduction requires confirmed permission from ICON Group International Inc. The disclaimer above must accompany all reproductions, in whole or in part, of this book.

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Acknowledgements The collective knowledge generated from academic and applied research summarized in various references has been critical in the creation of this book which is best viewed as a comprehensive compilation and collection of information prepared by various official agencies which produce publications on albinism. Books in this series draw from various agencies and institutions associated with the United States Department of Health and Human Services, and in particular, the Office of the Secretary of Health and Human Services (OS), the Administration for Children and Families (ACF), the Administration on Aging (AOA), the Agency for Healthcare Research and Quality (AHRQ), the Agency for Toxic Substances and Disease Registry (ATSDR), the Centers for Disease Control and Prevention (CDC), the Food and Drug Administration (FDA), the Healthcare Financing Administration (HCFA), the Health Resources and Services Administration (HRSA), the Indian Health Service (IHS), the institutions of the National Institutes of Health (NIH), the Program Support Center (PSC), and the Substance Abuse and Mental Health Services Administration (SAMHSA). In addition to these sources, information gathered from the National Library of Medicine, the United States Patent Office, the European Union, and their related organizations has been invaluable in the creation of this book. Some of the work represented was financially supported by the Research and Development Committee at INSEAD. This support is gratefully acknowledged. Finally, special thanks are owed to Tiffany Freeman for her excellent editorial support.

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About the Editors James N. Parker, M.D. Dr. James N. Parker received his Bachelor of Science degree in Psychobiology from the University of California, Riverside and his M.D. from the University of California, San Diego. In addition to authoring numerous research publications, he has lectured at various academic institutions. Dr. Parker is the medical editor for health books by ICON Health Publications. Philip M. Parker, Ph.D. Philip M. Parker is the Eli Lilly Chair Professor of Innovation, Business and Society at INSEAD (Fontainebleau, France and Singapore). Dr. Parker has also been Professor at the University of California, San Diego and has taught courses at Harvard University, the Hong Kong University of Science and Technology, the Massachusetts Institute of Technology, Stanford University, and UCLA. Dr. Parker is the associate editor for ICON Health Publications.

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About ICON Health Publications To discover more about ICON Health Publications, simply check with your preferred online booksellers, including Barnes & Noble.com and Amazon.com which currently carry all of our titles. Or, feel free to contact us directly for bulk purchases or institutional discounts: ICON Group International, Inc. 4370 La Jolla Village Drive, Fourth Floor San Diego, CA 92122 USA Fax: 858-546-4341 Web site: www.icongrouponline.com/health

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Table of Contents FORWARD .......................................................................................................................................... 1 CHAPTER 1. STUDIES ON ALBINISM .................................................................................................. 3 Overview........................................................................................................................................ 3 Federally Funded Research on Albinism........................................................................................ 3 E-Journals: PubMed Central ....................................................................................................... 19 The National Library of Medicine: PubMed ................................................................................ 21 CHAPTER 2. NUTRITION AND ALBINISM ........................................................................................ 83 Overview...................................................................................................................................... 83 Finding Nutrition Studies on Albinism ...................................................................................... 83 Federal Resources on Nutrition ................................................................................................... 85 Additional Web Resources ........................................................................................................... 86 CHAPTER 3. ALTERNATIVE MEDICINE AND ALBINISM .................................................................. 87 Overview...................................................................................................................................... 87 National Center for Complementary and Alternative Medicine.................................................. 87 Additional Web Resources ........................................................................................................... 92 General References ....................................................................................................................... 93 CHAPTER 4. DISSERTATIONS ON ALBINISM .................................................................................... 95 Overview...................................................................................................................................... 95 Dissertations on Albinism ........................................................................................................... 95 Keeping Current .......................................................................................................................... 96 CHAPTER 5. CLINICAL TRIALS AND ALBINISM ............................................................................... 97 Overview...................................................................................................................................... 97 Recent Trials on Albinism ........................................................................................................... 97 Keeping Current on Clinical Trials ............................................................................................. 99 CHAPTER 6. BOOKS ON ALBINISM ................................................................................................ 101 Overview.................................................................................................................................... 101 Book Summaries: Online Booksellers......................................................................................... 101 The National Library of Medicine Book Index ........................................................................... 101 Chapters on Albinism ................................................................................................................ 102 CHAPTER 7. PERIODICALS AND NEWS ON ALBINISM ................................................................... 105 Overview.................................................................................................................................... 105 News Services and Press Releases.............................................................................................. 105 Academic Periodicals covering Albinism................................................................................... 106 APPENDIX A. PHYSICIAN RESOURCES .......................................................................................... 111 Overview.................................................................................................................................... 111 NIH Guidelines.......................................................................................................................... 111 NIH Databases........................................................................................................................... 113 Other Commercial Databases..................................................................................................... 115 The Genome Project and Albinism ............................................................................................ 115 APPENDIX B. PATIENT RESOURCES ............................................................................................... 121 Overview.................................................................................................................................... 121 Patient Guideline Sources.......................................................................................................... 121 Associations and Albinism......................................................................................................... 125 Finding Associations.................................................................................................................. 126 APPENDIX C. FINDING MEDICAL LIBRARIES ................................................................................ 129 Overview.................................................................................................................................... 129 Preparation................................................................................................................................. 129 Finding a Local Medical Library................................................................................................ 129 Medical Libraries in the U.S. and Canada ................................................................................. 129 ONLINE GLOSSARIES................................................................................................................ 135

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Online Dictionary Directories ................................................................................................... 136 ALBINISM DICTIONARY .......................................................................................................... 137 INDEX .............................................................................................................................................. 181

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FORWARD In March 2001, the National Institutes of Health issued the following warning: "The number of Web sites offering health-related resources grows every day. Many sites provide valuable information, while others may have information that is unreliable or misleading."1 Furthermore, because of the rapid increase in Internet-based information, many hours can be wasted searching, selecting, and printing. Since only the smallest fraction of information dealing with albinism is indexed in search engines, such as www.google.com or others, a non-systematic approach to Internet research can be not only time consuming, but also incomplete. This book was created for medical professionals, students, and members of the general public who want to know as much as possible about albinism, using the most advanced research tools available and spending the least amount of time doing so. In addition to offering a structured and comprehensive bibliography, the pages that follow will tell you where and how to find reliable information covering virtually all topics related to albinism, from the essentials to the most advanced areas of research. Public, academic, government, and peer-reviewed research studies are emphasized. Various abstracts are reproduced to give you some of the latest official information available to date on albinism. Abundant guidance is given on how to obtain free-of-charge primary research results via the Internet. While this book focuses on the field of medicine, when some sources provide access to non-medical information relating to albinism, these are noted in the text. E-book and electronic versions of this book are fully interactive with each of the Internet sites mentioned (clicking on a hyperlink automatically opens your browser to the site indicated). If you are using the hard copy version of this book, you can access a cited Web site by typing the provided Web address directly into your Internet browser. You may find it useful to refer to synonyms or related terms when accessing these Internet databases. NOTE: At the time of publication, the Web addresses were functional. However, some links may fail due to URL address changes, which is a common occurrence on the Internet. For readers unfamiliar with the Internet, detailed instructions are offered on how to access electronic resources. For readers unfamiliar with medical terminology, a comprehensive glossary is provided. For readers without access to Internet resources, a directory of medical libraries, that have or can locate references cited here, is given. We hope these resources will prove useful to the widest possible audience seeking information on albinism. The Editors

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From the NIH, National Cancer Institute (NCI): http://www.cancer.gov/cancerinfo/ten-things-to-know.

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CHAPTER 1. STUDIES ON ALBINISM Overview In this chapter, we will show you how to locate peer-reviewed references and studies on albinism.

Federally Funded Research on Albinism The U.S. Government supports a variety of research studies relating to albinism. These studies are tracked by the Office of Extramural Research at the National Institutes of Health.2 CRISP (Computerized Retrieval of Information on Scientific Projects) is a searchable database of federally funded biomedical research projects conducted at universities, hospitals, and other institutions. Search the CRISP Web site at http://crisp.cit.nih.gov/crisp/crisp_query.generate_screen. You will have the option to perform targeted searches by various criteria, including geography, date, and topics related to albinism. For most of the studies, the agencies reporting into CRISP provide summaries or abstracts. As opposed to clinical trial research using patients, many federally funded studies use animals or simulated models to explore albinism. The following is typical of the type of information found when searching the CRISP database for albinism: •

Project Title: 2003 CONFERENCE PAN-AMERICAN SOCIETY PIGMENT CELL RESEA Principal Investigator & Institution: Halaban, Ruth; Senior Research Scientist; Dermatology; Yale University 47 College Street, Suite 203 New Haven, Ct 065208047 Timing: Fiscal Year 2003; Project Start 04-SEP-2003; Project End 07-SEP-2003

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Healthcare projects are funded by the National Institutes of Health (NIH), Substance Abuse and Mental Health Services (SAMHSA), Health Resources and Services Administration (HRSA), Food and Drug Administration (FDA), Centers for Disease Control and Prevention (CDCP), Agency for Healthcare Research and Quality (AHRQ), and Office of Assistant Secretary of Health (OASH).

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Summary: (provided by applicant): The Pan-American Society for Pigment Cell Research (PASPCR) was established in 1987 for scientists and physicians from North, Central and South America who study the normal and abnormal biology of melanogenesis and the melanocyte. The PASPCR was started at the beginning of an exciting decade in biological research. Molecular biology has become widely applied and the methods and techniques for investigation have changed dramatically. It is now time to expand the horizon of the society by bringing important and new disciplines within its vision. The 2003 11th Annual Meeting has been organized with a focus on the molecular biology and genetics of normal and abnormal melanocytes. This meeting will be held at the Sea Crest Resort Conference Center at Cape Cod, MA on September 4-7, 2003.The theme of this meeting is "Molecular and Genetic Characterization of Melanocytes and Melanoma Cells." The overall objectives of the meeting are to exchange ideas and approaches, and to foster collaborations among members of the society and other investigators by bringing together scientists whose most recent publications advanced the field of pigment cell research and associated diseases such as melanoma, albinism and vitiligo. The Specific Aims of the proposal are: 1. To provide partial support for the travel and meeting expenses for 14 invited speakers for seven sessions during the 11th annual meeting of the PASPCR. These speakers are internationally recognized as leaders in their field, and, except for two, are not members of the PASPCR. 2. To provide partial support for rental room, poster and audiovisual expenses for the 11th annual meeting of the PASPCR. 3. To provide partial support to students and junior faculty to attend the meeting. They request funds for the 2003 meeting as well as for the 2 subsequent PASPCR annual meetings in years 2004 and 2006. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ALBINISM: DEFECTS IN TYROSINASE, AMINES, OR MELANIN Principal Investigator & Institution: Roffler-Tarlov, Suzanne; Neuroscience; Tufts University Boston Boston, Ma 02111 Timing: Fiscal Year 2003; Project Start 01-MAR-2003; Project End 28-FEB-2006 Summary: (provided by applicant): This proposal requests funding for examination of the hypotheses that (1) tyrosinase activity in the embryonic eye results in the formation of developmental signals, that (2) these signals, perhaps amines, direct the generation of ganglion cells in the embryonic eye and that (3) the signals made through the activity of tyrosinase are transient and are made before tyrosinase switches to the synthesis of melanin in the pigment epithelium. The effects of amines on spatiotemporal features of neurogenesis would in turn lead to designation of the crossed and uncrossed projection of retinal ganglion cells. Our studies will focus on two lines of mice that are genetically identical except for a mutation at the tyrosinase locus. One line is pigmented (C57B16 Tyr+), the other, the albino (C57B16 Tyrc2j) carries a point mutation in the gene that codes for tyrosinase. The albino is known to have aberrant ganglion cell projections with the ipsilateral pathway reduced by half. Lack of functional tyrosinase in the albino is also correlated with changes in the timing of generation of retinal ganglion cells. Using histological and biochemical techniques, we will determine whether catechol or other amines are formed transiently in the developing eye, as is the case in peripheral tissues. We will test whether these substances are formed as a consequence of tyrosinase activity, again, as occurs in peripheral tissues. We will examine developing eye to see if there is a switch from the formation of developmental signals by tyrosinase to the formation of melanin, as also may be the case in peripheral tissues. We will correlate these events with the birth and differentiation of retinal ganglion cells. If we do find candidates for developmental signals for generation of retinal ganglion cells, we will test

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their effectiveness as signals in retina in vitro, and in vivo using tissues from albino mice including the OA1 knockout in which a G protein coupled receptor within melanosomes is mutated. Ultimately, if such signals deriving from tyrosinase-driven pathway unrelated to melanin production, are found, this research will open doors to therapeutic intervention in individuals carrying the OA1 gene. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ALBINO DEVELOPMENT

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Principal Investigator & Institution: Magnuson, Terry R.; Director; Genetics; University of North Carolina Chapel Hill Office of Sponsored Research Chapel Hill, Nc 27599 Timing: Fiscal Year 2001; Project Start 01-DEC-1989; Project End 30-NOV-2004 Summary: Similar to Drosophila, murine Polycomb-group (Pc-G) genes regulate anterior-posterior patterning of segmented axial structures by transcriptional repression of homeotic gene expression. eed (embryonic ectoderm development) is a recently isolated member of this group. It encodes a 441-amino acid protein with five WD motifs highly homologous to Drosophila ESC (Extra Sex Combs). Functional conservation between eed and esc has been inferred from posterior homeotic transformations along the axial skeleton in mice carrying a hypomorphic eed allele. However, eed is acting earlier and more globally during development than predicted from esc function. It has been hypothesized that additional developmental function(s) of Eed in mammals may reside in the amino terminus, the region of greatest sequence divergence between Eed and ESC. Outlined here are a series of experiments aimed toward understanding how eed exerts a broad range of biological effects. Embryo manipulation through chimera production, epiblast orthotopic transplants and transplantation of the early gastrula organizer will address whether the mutant epiblast is capable of producing and/or responding to axial organizing signals. Lineage analysis will address whether a fate map can be established for the wild-type blastocyst stage embryo and whether eed alters this clonal fate. Despite the ubiquitous presence of eed expression, the phenotype so far described in ice does not predict global alterations of Hox gene expression. Detailed temporal and spatial analyses of Hox genes in mutant embryos will address mechanisms of initiation and maintenance of Hox expression boundaries. Ubiquitous and tissue specific transgenic experiments both in mice and flies will address functional differences between the species as well as regional differences within each species. Absence of direct DNA binding and indirect evidence of chromatin changes associated with Pc-G protein-mediated repression prompted the hypothesis that Pc-G proteins form distinct complexes that function epigenetically by modifying higher-order chromatin structure. A biochemical and genetic approach in fly and mouse is proposed to begin to identify members of the Eed Pc-G complex. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: CELLULAR PROTEIN MATURATION AND DEGRADATION Principal Investigator & Institution: Hebert, Daniel N.; Assistant Professor; Biochem and Molecular Biology; University of Massachusetts Amherst 408 Goodell Building Amherst, Ma 01003 Timing: Fiscal Year 2001; Project Start 01-APR-1999; Project End 31-JAN-2004 Summary: The overall goal of this proposal is to understand the biological processes involved in the protein folding, quality control and degradation of the membrane glycoprotein tyrosinase. Tyrosinase is a melanocyte-specific enzyme required for

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melanin synthesis. Mutations in tyrosinase is a melanocyte-specific enzyme required for melanin synthesis. Mutations in tyrosinase are the cause of tyrosinase-negative albinism. Many of these mutated forms contain amino acid substitution that have the potential to reduce the efficiency of proper folding and to cause retention in the endoplasmic reticulum (ER), the site of protein maturation for membrane glycoproteins. The key role of the ER in the regulation of tyrosine has been demonstrated in a melanotic melanoma cells in which ER-retention of wild type tyrosinase leads to subsequent degradation by the cytosolic ubiquitin-dependent proteasomal pathway. Understanding the mechanisms involved in tyrosinase biosynthesis and degradation will help us to address the following fundamental questions: Are the tyrosinase-mutants in albino melanocytes retained in the ER? What is the mechanism of retention? Can this retention be relieved to produce a correctly localized and functional protein? Can this retention by selectively implemented? The specific aims of this proposal are: 1) To analyze the protein maturation (folding, co- and post-translational modification, and chaperone binding) of wild type and mutant forms of tyrosinase in a cell-free maturation system. 2) To constitute the ER- retention/degradation pathway of tyrosinase in a cell-free system, identify and characterize the proteins involved in both the sorting and degradation processes. 3) To characterize the maturation, quality control and degradation of tyrosinase in normal and malignant melanocytes. These studies will provide insights into the maturation, quality control and degradation mechanisms of tyrosinase and the etiology of pigmentation-related diseases. In addition, a better understanding of the biosynthetic and degradation processes of the cell would assist in the design of therapeutic drugs targeted against genetic diseases caused by trafficking and ER maturation defects in general, and albinism and/or hypo- and hyperpigmentation in particular. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: DISSECTING THE MOLECULAR BASIS OF OCULAR ALBINISM TYPE 1 Principal Investigator & Institution: Schiaffino, Maria V.; Istituto Scientifico San Raffaele Via Olgettina 60 Milano, Timing: Fiscal Year 2003; Project Start 01-MAR-2003; Project End 28-FEB-2008 Summary: (provided by applicant): Ocular albinism type 1 (OA1) is an X-Iinked disorder characterized by severe reduction of visual acuity, retinal hypopigmentation, foveal hypoplasia, and the presence of giant melanosomes (macromelanosomes) in skin melanocytes and retinal pigment epithelium. The protein product of the OA1 gene is a pigment cell specific membrane glycoprotein, displaying structural and functional features of G protein-coupled receptors (GPCRs). However, in contrast to all other previously characterized GPCRs, OA1 is not localized to the plasma membrane, but is targeted to intracellular organelles, namely the melanosomes in pigment cells and the Iysosomes in transfected non-melanocytic cells. These unique characteristics suggest that OA1 represents the first example described so far of an exclusively intracellular GPCR, supporting previous hypotheses that GPCR-mediated signal transduction systems might also operate at the internal membranes in mammalian cells. In particular, OA1 could function as a "sensor" of a yet unidentified intra-melanosomal ligand, regulating melanosome maturation and/or movements through activation of heterotrimeric G proteins on the cytoplasmic side of the melanosomal membrane. To test these hypotheses, the present project focuses on the understanding of the molecular function of OA1 and on the study of its upstream and downstream pathways. The first aim of the proposal concerns the formal demonstration that OA1 functions as a GPCR

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by using different approaches: definition of the membrane topology of OA1; identification of the OA1 ligand; generation of constitutively active OA1 mutants; characterization of the sorting determinants of OA1, which could facilitate ligand identification. The second aim of the proposal focuses on the dissection of the OA1 downstream pathway, including the testing of the microtubule cytoskeleton and of other melanosomal proteins as candidate effectors, and the search for unsuspected interactors by the yeast two-hybrid system and mass spectrometry-based approaches. Given the roles of intracellular heterotrimeric G proteins in membrane traffic, these studies will hopefully shed light not only on the pathogenesis of ocular albinism, but also on more general mechanisms of intracellular signal transduction possibly mediated by GPCR-G protein systems, providing important clues for understanding fundamental processes both in cell biology and molecular medicine. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETIC ANALYSIS OF VESICLE TRAFFICKING PATHWAYS Principal Investigator & Institution: Webb, Lisa S.; Jackson Laboratory 600 Main St Bar Harbor, Me 04609 Timing: Fiscal Year 2003; Project Start 30-SEP-2003; Project End 31-AUG-2005 Summary: (provided by applicant): This project is designed to utilize a combination of approaches to elucidate the vesicular trafficking processes involved in the pathogenesis of Herrnansky-Pudlak Syndrome (HPS). The central hypothesis driving this research involves R26W, a gene that has been shown to interact with reduced pigmentation (rp) and ruby eye (ru), two mouse models of HPS, implying that R26W, rp, and ru function within the same biochemical pathway(s). Specifically, the hypothesis states that the R26 W gene and its protein product: function in vesicle trafficking pathway(s) that includes rp, ru, cappuccino (cno), pallid (pa) and muted (mu). This shared pathway(s) is critical to the biogenesis and function of three developmentally related cellular organelles (platelet dense bodies, melanosomes, and lysosomes) and is involved in the pathogenesis of HPS. There are three specific aims designed to prove the hypothesis. The first aim is to identify the specific functions of the R26W gene using targeted mutagenesis in ES cells. I will establish and characterize lines of mice carrying this targeted mutation. The second aim is to determine if R26W is a component of the BLOC1 complex using immunoprecipitation/recapture assays. BLOC-1 is a multiprotein complex involved in organelle biogenesis and function. Its precise composition is unknown, but it includes the pa, mu, rp, and cno gene products. The third aim is to identify additional genes functioning in HPS-related pathways by isolating R26W binding ligands using two-hybrid assays and co-immunoprecipitation methods. Accomplishing the three specific aims in this project will lead to a better understanding of organelle biogenesis and the vesicle trafficking pathway(s) involved in the pathogenesis of HPS. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

•

Project Title: GENETIC REGULATION OF MELANIN BIOSYNTHESIS Principal Investigator & Institution: King, Richard A.; Professor; Medicine; University of Minnesota Twin Cities 200 Oak Street Se Minneapolis, Mn 554552070 Timing: Fiscal Year 2001; Project Start 15-MAY-1998; Project End 30-APR-2002 Summary: (Adapted from the applicant's abstract) - Melanin pigment is a complex biopolymer found primarily in the skin, hair, and eyes. It functions as a photoprotective pigment of the body surface, provides cosmetic appeal and camouflage, and is involved

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in the development of the eye and the optic nerves. Melanin synthesis starts with tyrosine and involves a series of steps that lead to black-brown eumelanin or red-yellow pheomelanin. Tyrosinase, as part of a complex with other pigment enzymes and protein factors, catalyzes the first two steps in the melanin synthetic pathway, and the loss of tyrosinase activity is associated with a total loss of melanin in the melanocyte. The investigators propose to study the role of tyrosinase in the regulation of melanin synthesis using human tyrosinase-related oculocutaneous albinism or OCA1 as the model system. Most tyrosinase gene mutations are associated with a total lack of melanin (OCA1A) while a number are associated with the formation of some melanin pigment in the hair, skin, and eyes after birth (OCA1B). The investigators hypothesize that OCA1B mutations produce enzymes with residual acidity, and they feel that the characterization of these mutations and their effect on enzyme structure and function will provide insight into the regulation of melanin synthesis. The investigators propose three specific aims. First, they will characterize the molecular genotype of individuals with OCA1B to extend their initial studies of this type of albinism. They will identify responsible tyrosinase gene mutations by direct DNA sequencing and by mRNA analysis. Second, they will characterize the effects of OCA1B mutations on tyrosinase function. Individual mutations will be recreated and analyzed in expression studies of mutant enzyme. Third, they will perform structure:function studies of recombinant normal and mutant tyrosinase enzyme. Purified Streptomyces antibioticus tyrosinase and human tyrosinase will be used for crystallization and x-ray analysis to determine 3dimensional structure and functional domains of the enzyme. These studies will provide fundamental information on the role of tyrosinase in the regulation of melanin synthesis and the function of this critical pigment enzyme. Knowledge gained will be important for future development of effective therapy for the protection of the skin from the oncogenic effects of ultraviolet radiation, and for promoting normal ocular development. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENETICS OF DARK SKIN IN MICE Principal Investigator & Institution: Barsh, Gregory S.; Professor Pediatric and Genetics; Pediatrics; Stanford University Stanford, Ca 94305 Timing: Fiscal Year 2003; Project Start 01-SEP-2003; Project End 31-AUG-2007 Summary: (provided by applicant): Pigmentary variation is an established and productive model genetic system for investigating basic biological processes relevant to human disease. Most of this work has been based on previously existing mouse coat color mutations, several of which are homologous to different forms of human albinism. However, mouse coat color mutations sample only a portion of pigmentary variation, because the processes and genes that control hair color are at least partially distinct from those that control skin color. In preliminary studies, we have developed a new model system for mammalian genetics based on mouse skin color. From about 30,000 animals subjected to a global screen for dominant phenotypes, we have focused on a novel class of pigmentation mutants identified by dark skin (Dsk). We determined the genetic map location, homozygous phenotype, and histological determinants of 10 new Dsk mutations, and identified missense alterations in Gnaq (Dsk1), Keratin2e (Dsk2), Egfr (Dsk5), and Gna11 (Dsk7). The Dsk mutations represent genes or genetic map locations not previously implicated in the pigmentary system, and delineate a multi-step developmental pathway in which genetic lesions can be classified based on the body region, microscopic site, and timing of pigment accumulation. We propose to further investigate the molecular and cellular basis for dark skin in mice by developing

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methods to trace the lineage and measure profiles of gene expression for different subsets of developing pigment cells, by determining the molecular identification and mechanism of action for the remaining Dsk mutations, and by expanding the Dsk screen to include additional dominant and recessive mutations. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: GENOPLASTY IN OCULAR GENE THERAPY Principal Investigator & Institution: Nickerson, John M.; Professor; Ophthalmology; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2002; Project Start 01-APR-2002; Project End 28-FEB-2005 Summary: (Applicant's Abstract) Without argument, the most important goal of gene therapy is to fix the somatic endogenous gene in a gene defect. This goal circumvents most major problems associated with current strategies of gene therapy mediated by viruses or proviruses, antisense oligonucleotides, or ribozymes. Our intent is to repair a gene much like the normal cellular process of nucleotide excision repair or mismatch repair, which occurs as a perfectly normal everyday occurrence in human cellular physiology. Our aims are to employ the normal DNA repair enzymes of the eye and to supply a suitable repair substrate to the nucleus of the cell. Having provided this substrate, we will rely on the normal DNA repair enzymes of the cell to recognize a single nucleotide mismatch between the substrate and the endogenous gene and replace the defective base with the wildtype nucleotide. This process is now known as genoplasty. Our principal model systems will be the commonly available animal models of human oculocutaneous tyrosinase-negative albinism, white mice and New Zealand white rabbits. Using genoplasty, we plan to repair precisely known lesions in the tyrosinase gene somatically in RPE cells. Thus, this research will have high impact on the future directions of gene therapy in the eye. It is novel, no one else is doing this in the eye, and it is innovative because it uses the endogenous gene and normal DNA repair enzymes to allow the cell to fix itself. Our guiding hypothesis is that genoplasty works by mass action. The more substrate put into the cell, the more likely that gene repair will occur. We further hypothesize that virtually every cell has the right DNA repair enzymes and ancillary proteins. Thus, to achieve gene repair, all we need to do is get an adequate amount of substrate into the nucleus, and nature will take its course. Our aims are: 1) to develop better assays for detecting gene repair of the tyrosinase gene in somatic RPE cells, 2) to achieve high levels of transfection and nuclear localization in ocular tissues, and 3) to design better substrates. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MECHANISMS OF RETINAL AXON PATHFINDING Principal Investigator & Institution: Chien, Chi-Bin B.; Assistant Professor; Neurobiology and Anatomy; University of Utah 200 S University St Salt Lake City, Ut 84112 Timing: Fiscal Year 2003; Project Start 04-FEB-2000; Project End 31-JAN-2007 Summary: (provided by applicant): For growing axons to find their targets in the developing brain, their growth cones must respond to both attractive and repulsive signals in the environment. It has recently been shown that growth cones can modulate their responses to particular signal, even switching from attraction to repulsion; however, it is not known if this occurs in vivo. The zebrafish visual system is uniquely suited for studying how growth cones integrate positive and negative signals in vivo, and testing how their responses to signals change as they pathfind. The proposed

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experiments study the roles of two classes of guidance cues, Slits and netrins, in retinal axon pathfinding. Slits are thought to signal repulsively through the Astray/Robo2 receptor, while netrins are thought to signal attractively through the DCC receptor. Slit/Robo2 and netrin/DCC are both known to guide retinal axons, but their roles in different parts of the pathway are unknown. A combination of forward-genetic, reversegenetic, and transgenic approaches will be used to perturb Slit/Robo2 and netrin/DCC signaling in vivo, to test where in the retinal pathway these signals are important, and to test whether their roles change over the course of the pathway. The zebrafish retinotectal system not only allows visualization of retinal axons in vivo with exquisite resolution, but also allows precisely targeted perturbations of their in vivo environment. The results and techniques developed here will help lead to a comprehensive understanding of all the signals that guide retinal axon growth, and how these different signals interact. In summary, this project will illuminate where, when, and how the guidance of zebrafish retinal axons requires Slit/Robo2 and netrin/DCC signaling. The resulting knowledge of genetic and developmental mechanisms will be important for understanding human diseases, such as albinism, that affect optic axon guidance. This knowledge will also be critical for designing therapies to reverse optic nerve degeneration. More generally, this project will test broad principles of axon guidance which are important for understanding the wiring of the nervous system and the basis of inherited neurological disease. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MELANOSOME PROTEIN SORTING, FOLDING & ANTIGEN PROCESSING Principal Investigator & Institution: Marks, Michael S.; Assistant Professor; Pathology and Lab Medicine; University of Pennsylvania 3451 Walnut Street Philadelphia, Pa 19104 Timing: Fiscal Year 2001; Project Start 01-JUL-1998; Project End 30-JUN-2003 Summary: Tyrosinase and gp100 function in melanin biosynthesis and are resident integral membrane proteins of a tissue-specific, lysosome-like organelle called the melanosome. Failure of melanocytes to properly sort tyrosinase or gp100 to the melanosome results in developmental and pigment defects such as oculocutaneous albinism. Melanosomal sorting may also affect immune responses to melanoma; tyrosinase and gp100 are among the few human tumor-associated antigens recognized by CD4+, major histocompatibility complex (MHC) class II-restricted T cells. The mechanisms by which these proteins are sorted to melanosomes and the relationship between melanosomal and MHC class II antigen sorting pathways are poorly understood. We hypothesize that these two pathways utilize similar intracellular sorting mechanisms and that proper sorting is necessary for MHC class II-dependent antigen presentation. In addition, tyrosinase is retained within the endoplasmic reticulum (ER) and degraded by the proteasome under certain developmental conditions. Proteasomal degradation may enhance antigen presentation by MHC class I molecules. We hypothesize that tissue-specific activities regulate the folding and/or assembly of tyrosinase and affect antigen processing in melanic and non-melanic cells. The Specific Aims are: 1. To identify melanosomal sorting determinants within tyrosinase and gp100. Transfected cells will be analyzed morphologically for localization of full-length molecules with targeted mutations or of chimeric proteins containing isolated topologic domains derived from tyrosinase and gp100. Cellular proteins that interact with identified determinants will be characterized biochemically. 2. To characterize the determinants of tyrosinase retention within the endoplasmic reticulum of non-melanic

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cells. Cell type differences between melanic and non-melanic cells in the ER protein folding environment and in the assembly and stoichiometry of tyrosinase and chimeric proteins containing isolated tyrosinase topologic domains will be determined using biochemical and genetic criteria. 3. To determine whether sorting and folding affect tyrosinase (and gp100) recognition by CD4+ and CD8+ T lymphocytes, respectively. Melanosomal proteins will be colocalized with MHC molecules in melanoma and transfected non-melanic cells. The effect of altering the protein sorting and/or retention properties of tyrosinase and gp100 on recognition by specific T cell clones will be determined. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MOLECULAR ANALYSES OF HERMANSKY-PUDLAK SYNDROME GENES Principal Investigator & Institution: Swank, Richard T.; Cancer Research Scientist Vi; Roswell Park Cancer Institute Corp Buffalo, Ny 14263 Timing: Fiscal Year 2001; Project Start 01-APR-1998; Project End 31-MAR-2006 Summary: (provided by applicant): The proposed research is part of a comprehensive research effort to molecularly define genes of the mouse, which cause oculocutaneous albinism (OCA), and in particular, the multigenic subform of OCA termed HermanskyPudlak Syndrome (HPS). HPS is a genetically heterogeneous, recessively inherited disease, which causes visual defects, hemorrhaging and significantly shortened lifespan due to fibrotic lung disease. A long-term goal is to devise diagnostic and therapeutic strategies for HPS, which presently has no efficacious treatment. The second long-term goal is to understand the mechanism of action of genes responsible for the normal biosynthesis of specialized mammalian subcellular organelles such as melanosomes, platelet dense granules and lysosomes. Two mouse HPS mutants, ruby eye and ruby eye-2, are of special interest, not only because they accurately model HPS, but also because they are phenotypic mimic mutants. Their molecular characterizations are therefore expected to lead to identification of a common pathway and perhaps a common protein complex involved in the disease. The specific aims of this proposal are to: 1) complete the identification and partial characterization of the mouse ruby eye (ru) HPS gene; 2) identify and partially characterize the closely related ruby eye-2 (ru2) HPS gene; 3) isolate human homologues of the cloned ru and ru2 HPS genes and test for alterations of these genes in human kindreds; and 4) identify interactions between the products of the ru and ru2 genes. A multidisciplinary positional/candidate cloning approach will be used to accomplish these aims including construction of highresolution genetic maps through the use of large interspecific mouse backcrosses and construction of high-resolution physical maps through identification of overlapping contigs of RPCI-23 bacterial artificial chromosomes (BACs). Critical BACs containing the gene of interest will be identified through insertion into recipient transgenic mutant mice. Transcripts within critical BACs will be identified by a combination of exon trapping, cDNA selection and complete BAC sequencing. Transcripts containing the ruby eye and ruby eye-2 mutations will be identified by qualitative and quantitative approaches including complete cDNA sequencing and ribonuclease protection assays, respectively. To identify patients with mutations in the corresponding human genes, the cDNA sequence of the human homologue of each gene and its expression level will be determined in normal individuals and in HPS patients with no mutations in known HPS genes. Each gene will be partially characterized by assays of transcript and protein tissue distribution together with subcellular localization measurements by immunofluorescence techniques. Interaction of the ruby eye and ruby eye-2 genes will

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be measured by a variety of phenotypic assays in mice bred to be doubly mutant for each gene together with direct tests for interaction of their protein products by coimmunoprecipitation techniques and yeast two-hybrid approaches. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: MOLECULAR GENETICS OF HERMANSKY PUDLAK IN PUERTO RICO Principal Investigator & Institution: Cadilla, Carman J.; University of Puerto Rico Med Sciences Medical Sciences Campus San Juan, Pr 00936 Timing: Fiscal Year 2001 Summary: The Hermansky-Pudlak syndrome (HPS) [MIM#203300] is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding tendency, and a ceroid-lipofuscin-like lysosomal storage disease. Frequent medical problems seen in HPS patients include eyesight problems (myopia, nystagmus, strabismus, and prolonged bleeding, progressive pulmonary fibrosis, and granulomatous (Witkop et al 1990 and Spritz et al 1998). There is no specific or effective treatment for HPS. Patient average survival is 30 to 50 years, death usually resulting from restrictive lung disease (68%), hemorrhage (17%), or colitis (15% (Witkop et al. 1990). HPS is a rare genetic condition worldwide. Nevertheless, HPS is thought to be the most common single-gene disorder on the island of Puerto Rico (PR), particularly in the northwestern region, where it has been reported to occur with an incidence of 1:1800 (Witkop et al, 1990), as well as a long-isolated mountain village in the Swiss Valais (Lattion et al, 1983 and Schallreuter et al. 1993) HPS is thus a significant public health problem in Puerto Rico. The laboratory of Dr. Richard A. Spritz, our consultant in this project, (Oh et al, 1996) mapped and cloned a gene responsible for HPS in both the PR and Swiss patients. The current proposal is aimed at identifying the genetic defect of a sector of the Puerto Rican HPS patient population at this high-risk population. We propose to investigate the molecular basis of HPS in Puerto Rican patients who lack the typical-16-HPS1 gene frameshift duplication. As will be discussed in the proposal, we expect that these patients may not have any mutation in the 10q23HPS1 gene, and thus will be useful for mapping a third, "HPS3" locus. This will be bone by directed screening of target genes. We propose the following research strategy to approach our principal goal: systematic characterization of the genetic defect(s) causing HPS in Puerto Ricans. I. (a) Examine the HPS1 exon 15 duplication-negative PR patients for other mutations in the HPS1 gene. I. (b) Examine the platelet dense bodies in all HPS1 exon 15 duplication negative patients. II. Examine the HPS1 exon 15 duplication-negative PR patients for tyrosinase mutations to exclude OCAI plus an unusual bleeding disorder not related to HPS. III. Examine the Puerto Rican HPS1 exon 15 duplication-negative PR patients for mutations in the AP-3 adaptor complex subunits, as occurs in the mouse pearl mutant. IV. Determine the carrier frequency of the HPS1 exon 15 16 bp duplication mutation in the Puerto Rican population (both islandwide and in the Northwestern region of Puerto Rico) and eventually of other mutations that cause HPS. FUTURE DIRECTIONS: To map and eventually identify a third presumed HPS gene in the high-risk population of Puerto Rio by either identifying pathological mutations in the candidate genes proposed or by linkage disequilibrium analysis, which will form the basis for eventual isolation of the gene by positional cloning. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: MOLECULAR GENETICS OF RETINAL DEVELOPMENT AND INHERITED EYE DISEASE Principal Investigator & Institution: Swaroop, Anand; Professor; University of Michigan at Ann Arbor 3003 South State, Room 1040 Ann Arbor, Mi 481091274 Timing: Fiscal Year 2001 Summary: This abstract is not available. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: OCULAR ALBINISM 1: FROM MOLECULAR BASES TO GENE DELIVERY Principal Investigator & Institution: Ballabio, Andrea; Fondazione Telethon Via G Saliceto, 5 Rome, Timing: Fiscal Year 2003; Project Start 30-SEP-2003; Project End 31-AUG-2008 Summary: (provided by applicant): Ocular albinism type 1 is characterized by impaired visual acuity, nystagmus, photophobia, strabismus and loss of stereoscopic vision. It is inherited as an X chromosome-linked trait. Similarly to other types of albinism, it is associated with misrouting of the optic tracts during development. The histopathological hallmark of the disease is the presence of macromelanosomes in both skin melanocytes and retinal pigment epithelium (RPE). Following identification of the OA1 gene, several loss-of-function mutations were identified in patients. However, these account for approximately 70% of the cases studied, the remaining mutations being so far undetected. The OA1 protein product shares sequence similarity with Gprotein coupled receptors and binds G proteins. Unlike most members of this protein family, OA1 is intracellular, being located on the melanosomal membrane. Both the macromelanosomal phenotype and the subcellular localization of the OA1 protein suggest a defect in melanosome biogenesis in ocular albinism. However, the precise role of OA1 in this fundamental process is still unknown. An important model system to study OA1 function and disease pathogenesis is the OA1 knock-out mouse which recapitulates the human disease phenotype. The goals of this project are to: 1) identify the full spectrum of mutations causing the disease, 2) study the requirement of OA1 during visual system development and maintenance, 3) discover the pathogenetic steps leading from mutations of the OA1 gene to disease phenotype, 4) characterize the functional interaction of OA1 with other genes involved in albinism to understand their role in melanosome biogenesis, 5) develop both pre- and post- natal OA1 gene delivery approaches to the RPE of animal models, aiming at phenotype prevention and rescue, respectively. These studies will advance our understanding of OA1 function in pigmentation, RPE function, melanosome biogenesis, and optic nerve development. In addition, they will lead to a deeper understanding of the pathogenesis of ocular albinism type 1 as well as of other types of albinism. Finally, the gene delivery approaches developed may represent important tools for future treatment of eye diseases involving RPE. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: ON THE ROLE OF THE HPS GENE PRODUCT IN MELANOCYTES Principal Investigator & Institution: Boissy, Raymond E.; Professor; Dermatology; University of Cincinnati 2624 Clifton Ave Cincinnati, Oh 45221 Timing: Fiscal Year 2001; Project Start 01-AUG-1999; Project End 31-JUL-2003

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Summary: The Hermansky-Pudlak Syndrome (HPS) is a congenital, potentially fatal, multi-system disorder presenting with oculocutaneous albinism, a mild to severe bleeding diathesis, and ceroid storage disease. These characteristics result from aberrations in a specific group of cellular organelles, (i.e., the pigment granule of the melanocyte, the dense bodies of the platelet, and the lysosome/residual body of the reticular cell respectively). HPS is an autosomal recessive disease that is somewhat prevalent in the United States and relatively frequent in Puerto Rico (1:1800 affected). The single gene affected in HPS putatively regulates a common feature in the biosynthesis and/or maintenance of the three types of specific cellular organelles involved. In common, these organelles either originate and/or receive specific glycoproteins from the Golgi apparatus. Thus it is hypothesized that the HPS gene product regulates selective trafficking from the trans Golgi network to distinct target organelles. The gene for HPS has recently been cloned. The deduced amino acid sequence it encodes has no significant homologies with any known protein. Therefore, this molecule appears to be a unique protein. The HPS gene product does contain motifs suggestive of a signal sequence, transmembrane domains, glycosylation sites, cysteine rich areas, and several lysosome/endosome trafficking motifs. Thus it is hypothesized to be a glycoprotein synthesized at the RER and trafficked to the limiting membranes of the specific organelles discussed. We propose to confirm the ultimate site of localization of the HPS gene product and its mode of synthesis using the melanocyte system. In addition, we will investigate its role in melanization and identify a candidate binding partner it must use for the fusion/docking process in its selective trafficking function. Specifically, cultured human melanocytes will be assessed for the immunocytochemical localization and biosynthesis analysis of the HPS gene product using a panel of antibodies generated against the HPS gene product. In addition, melanoma cells transfected with the anti-sense HPS cDNA and melanocytes cultured from patients with HPS will be used as artificial and natural knock-out models respectively to analyze the concurrent alteration in trafficking of various melanocyte specific gene products. In addition, HPS melanocytes will be transfected with the sense HPS cDNA in an attempt to correct the morphological/translocation defect. Finally, immunoprecipitation/immunoblotting experiments along with the Yeast Two-Hybrid system will be utilized to identify proteins that bind to the HPS gene product as candidate molecules that co-operate in the targeting process. These studies will contribute to our knowledge of cellular trafficking in general and the pathophysiology of HPS in specific. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ORGANELLE MEMBRANES IN PLATELET STORAGE POOL DISEASE Principal Investigator & Institution: Peters, Luanne L.; Staff Scientist; Jackson Laboratory 600 Main St Bar Harbor, Me 04609 Timing: Fiscal Year 2002; Project Start 01-FEB-1996; Project End 30-NOV-2005 Summary: (provided by applicant): In Hermansky-Pudlak syndrome (HPS), defects in the lysosome-related organelles (melanosomes, platelet dense bodies, and lysosomes) result in albinism, prolonged bleeding, and lysosomal ceroid pigment deposition. HPS type 1 is caused by defects in the HPS1 gene, which encodes a protein of unknown function. HPS type 2 is caused by defects in the beta3A subunit of the AP-3 complex, which functions in endosomal-lysosomal protein trafficking. Significantly, 30-50 percent of HPS patients have no HPS1 or AP-3 defects. Fifteen mouse models of HPS mapping to distinct chromosomal loci have been described, underscoring its marked genetic

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heterogeneity. All show striking clinical correlations with human HPS. Pale ear (ep) encodes mouse HPS1. Defects in the AP-3 beta3A and delta subunits cause the pearl (pe) and mocha (mh) mutations, respectively. Ashen (ash) and pallid (pa) result from defects in vesicle fusion and docking proteins. Clearly, cloning the remaining mouse mutations will provide additional candidate genes for human HPS, elucidate mechanisms of organelle biogenesis and protein and vesicle trafficking, and identify novel pathways common to the biogenesis of melanosomes, dense bodies, and lysosomes. Here, we will: 1. Identify the gene defects in two mouse models of HPS, reduced pigmentation (rp) and cappuccino (cno); characterize the encoded proteins; identify binding ligands for each; and test for defects in human HPS cell panels. 2. Knockout the TRAPP protein-related R26W gene. A viral insertion at the R26W locus in mice results in clonal inactivation of the gene in a subset melanocytes, producing patchy pigmentation defects. Notably, the R26W phenotype is exacerbated when combined with the HPS mutation rp (R26W /+, rp/+). We will generate a true R26W null mutation, test homozygotes for the HPS phenotype, test for direct interactions between the R26W and rp gene products, identify additional binding partners, and test human HPS cell panels for R26W defects. 3. Generate a conditional knockout of ankyrin (ANK3), a major membrane skeleton protein present in the lysosome-related organelles. Specifically, we test the hypotheses that (a) defects in rp and cno cause HPS in humans; (b) R26W is an HPS candidate gene that interacts with rp during organelle biogenesis; and (c) Ank3 is an HPS candidate gene required for organelle structural integrity and function. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: PATHOGENESIS OF OCULAR ALBINISM Principal Investigator & Institution: Orlow, Seth J.; Professor; Dermatology; New York University School of Medicine 550 1St Ave New York, Ny 10016 Timing: Fiscal Year 2001; Project Start 01-JUN-1994; Project End 31-MAY-2006 Summary: (provided by applicant): Albinism connotes a group of genetic disorders that share in common the reduction of ocular and often cutaneous pigmentation, and are associated with significant visual morbidity. Ocular Albinism Type 1 (Nettleship-Falls type) is the most common form of ocular albinism. To understand the pathogenesis of ocular albinism caused by mutations in the OA1 gene, the murine Oal gene product will be studied by a combination of cellular, molecular biologic, genetic and biochemical techniques. During the next five years of support, the four specific aims to be pursued will be to: 1. Define the subcellular distribution of Oa1 in pigment cells and when expressed in nonmelanocytic mammalian cells as well as in Saccharomyces cerevisiae. 2. Elucidate the sequences that direct Oal to its subcellular destination and the pathway by which it traffics to that destination. 3. Test hypotheses regarding the potential subcellular function of Oa1 in mammalian and in yeast-based model systems. 4. Identify proteins that interact with Oa1. Emphasis will be placed on understanding how specific mutations causing the clinical disorder OA1 affect the protein's localization, trafficking and function when introduced into Oal. This work will shed light both upon the means by which such mutations cause human visual disease as well as upon basic mechanisms in cell biology. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: BIOGENESIS

ROLE

OF

BLOC-3

IN

LYSOSOME

AND

MELANOSOME

Principal Investigator & Institution: Dell'angelica, Esteban C.; Assistant Professor; Human Genetics; University of California Los Angeles 10920 Wilshire Blvd., Suite 1200 Los Angeles, Ca 90024 Timing: Fiscal Year 2003; Project Start 01-AUG-2003; Project End 31-JUL-2008 Summary: (provided by applicant): Melanosomes are cell-type-specific, membranebounded organelles in which melanin pigments are synthesized and stored. Abnormalities in melanosome biogenesis seem to underlie the pigmentation defects and visual problems associated with several human genetic disorders, such as X-linked ocular albinism 1 (OA1) and various types of Hermansky-Pudlak syndrome (HPS). Unlike OA1, all characterized types of HPS display additional clinical manifestations not related to melanosome function (e.g., prolonged bleeding), and are due to mutations in genes that are expressed ubiquitously. This has led to the idea that the products of HPS genes are involved in the biogenesis of several types of related organelles, including melanosomes, platelet dense granules and lysosomes. The goal of this project is to elucidate the function(s) of the products of the HPS1 and HPS4 genes, which are associated with two severe forms of HPS. Preliminary studies in our laboratory have revealed that HPS1 and HPS4 are components of a stable protein complex, termed Biogenesis of Lysosome-related Organelles Complex-3 (BLOC-3), which in fibroblasts is required for normal intracellular distribution of lysosomal-associated membrane proteins. The plan consists of three specific aims: (1) to determine the function of BLOC3 in cells that contain lysosomes but lack specialized organelles such as melanosomes; (2) to determine the function of BLOC-3 in melanosome biogenesis, using primary melanocyte cultures from control and HPS1- or HPS4-mutant mice; and (3) to establish the mechanism(s) of action of BLOC-3 at the molecular level. This research may provide important insights into the basic question of how melanosomes and related organelles are formed, and pave the way for the development of potential treatments for HPS. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: SPECTROSCOPIC STUDIES OF ACTIVE SITES IN COPPER PROTEINS Principal Investigator & Institution: Solomon, Edward I.; Professor; Chemistry; Stanford University Stanford, Ca 94305 Timing: Fiscal Year 2002; Project Start 01-JAN-1982; Project End 31-AUG-2007 Summary: (provided by applicant): Cu sites in biology are involved in a wide variety of functions including 02 binding, activation for hydroxylation and cofactor formation, the four electron reduction of 02 to H20 and the two electron reduction of N2O to N2. These often exhibit unique spectroscopic features that reflect novel geometric and electronic structures that make major contributions to function. Research involves the application of a wide variety of spectroscopic (absorption, variable-temperature variable-field magnetic circular dichroism, resonance Raman, EPR, SQUID magnetic susceptibility, xray absorption, etc.) and electronic structure methods (ligand field and density functional theory, etc.) to define the active sites in these proteins, related model complexes and their intermediates and determine geometric and electronic structure contributions to function. Specific aims are: 1) Definition of the reaction coordinate of oxy-tyrosinase and determination of differences in substrate interaction with the similar coupled binuclear copper sites in hemocyanin, tyrosinase, mutants of tyrosinase associated with oculocutaneous albinism, and catechol oxidase which relate to

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differences in function; 2) Definition of the coordinatively unsaturated nature of the trinuclear Cu cluster site in the multicopper oxidases, its reaction coordinate for 02 reduction to H20, its coupling with the Type I center as related to intramolecular electron transfer and its interaction with metal ion substrates relevant to iron metabolism in ceruloplasmin and its genetic disorder aceruloplasminemia, Fe uptake in yeast (Fet3p) and microbial Mn and Cu oxidation; 3) Extension of Cu(II)-hydroperoxide model studies to the active sites in dopamne b-monooxygenase and peptidylglycine ahydroxylating monooxygenase, involved in the control of neurotransmitters and peptidic hormone production, to determine the reaction coordinate for 02 activation by a single Cu center; 4) Definition of electronic structure/reactivity correlations for the u4sulfide bridged tetranuclear Cuz cluster which catalyzes the two electron reduction of the green house gas N2O; 5) Determination of the nature of tyrosine residue activation by Cu(Il) sites in the 02 dependent biosynthesis of the organic cofactors in amine oxidase and galactose oxidase; 6) Definition of 02 intermediates in heme/Cu models of cytochrome c oxidase, the terminal enzyme in aerobic metabolism, to understand its reaction coordinate for 02 reduction relative to the multicopper oxidases and how this relates to proton pumping for ATP synthesis. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: STUDIES OF HUMAN PIGMENTATION DISORDERS Principal Investigator & Institution: Spritz, Richard A.; Professor and Director; Biochem & Molecular Genetics; University of Colorado Hlth Sciences Ctr P.O. Box 6508, Grants and Contracts Aurora, Co 800450508 Timing: Fiscal Year 2001; Project Start 01-JUN-1992; Project End 30-JUN-2006 Summary: (Adapted from the Investigator's Abstract): Because of their readily apparent clinical phenotypes, disorders of pigmentation were among the first genetic diseases recognized in humans. The most severe of these are the oculocutaneous albinism (OCA) syndromes, characterized by greatly reduced pigmentation of the skin and eyes, major developmental defects of the visual pathways and consequent low visual acuity, susceptibility to skin cancer, and various other problems. A specific group of OCA disorders is even more severe, with pleiotropic systemic manifestations that lead to premature death. In these "multi-organellar" forms of OCA, which include HermanskyPudlak syndrome (HPS) and Chediak-Syndrome (CHS), deficient pigmentation results from defective biogenesis of multiple cellular organelles, including the melanosome, the site of pigment biosynthesis. We have previously identified the genes for HPS and CHS. Here, we propose to continue and extend our studies of HPS and CHS, with particular emphasis on studying the functions of the HPS and CHS proteins in organellar biogenesis and identifying three novel mouse genes, light-ear, cocoa, and buff, which cause HPS-like disorders of the mouse and we believe may likewise cause HPS-like diseases in man. The significance of these studies will be to elucidate the biological basis of these disorders, providing important basic knowledge about organellar biogenesis, but more importantly providing knowledge that may lead to the development of specific and effective therapies to prevent the premature deaths of patients with HPS and CHS. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

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Project Title: TRANSGENIC MUTANTS AFFECTING SEX DETERMINATION AND FERT* Principal Investigator & Institution: Bishop, Colin E.; Professor; Medicine; Baylor College of Medicine 1 Baylor Plaza Houston, Tx 77030

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Timing: Fiscal Year 2002; Project Start 27-SEP-2002; Project End 30-JUN-2007 Summary: (provided by applicant): It is known that a percentage of transgenic insertions result in an identifiable phenotype unrelated to the actual transgene used. This is the result of a genomic rearrangement, usually a relatively small deletion and/or inversion, that accompanies the transgene insertion. This application is designed to exploit this finding and systematically identify and characterize mice carrying insertional mutations in genes affecting sex determination and/or fertility. The investigators will use a novel transgenic insertional mutagenesis scheme based on the rescue of albinism in the inbred FVB/N strain by the introduction a tyrosinase minigene into the genome. In their experience, gained from a small scale mutagenesis program using this method, 10-15% of insertions resulted in new identifiable mutations, of which 10-15% involve reproductive fitness, including spermatogenesis, oogenesis, sex determination, and parturition. This approach offers many advantages over phenotypedriven schemes employing chemical mutagenesis for the identification of reproductive mutants. The entire screening process, including distinguishing homozygotes from heterozygotes, can be achieved by simple visual inspection of coat color. It uses a single inbred strain throughout, eliminating any confounding genetic background effects. Unlike ENU mutagenesis, it does not require the use of complicated local inversions or balancer chromosomes to help maintain sterile mutants. Finally, one of its most attractive features is that the mutation is tagged by the transgene. This allows cytogenetic mapping and fast molecular analysis of the disrupted locus. Given the previous productive nature of this novel program with respect to producing reproductive mutants, and the availability of the mouse genome sequence in the public domain, the investigators propose to examine a greater number of transgenic mice in a systematic way. Not only will reproductive mutants be identified and phenotyped in detail, but their cytogenetic map position will be obtained, flanking sequences generated, and the exact position of the mutation in the mouse genome determined. Drs. Colin Bishop and Paul Overbeek have had considerable experience in the past in analyzing transgenic insertion mutants exhibiting a variety of reproductive phenotypes. Working together with Dr. Dolores Lamb, an acknowledged expert in the field of male reproductive biology, and Dr. Martin Matzuk, an expert in the field of female reproduction, the investigators feel that that the proposed program will be very productive. Designed as a national resource, this program should provide researchers in the field of reproductive genetics a unique and highly detailed database and access to novel strains of mice. It will also be highly complementary to other mutagenesis programs using different strategies. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: ALBINISM

TRANSGENIC/MOLECULAR

APPROACHES

FOR

OCULAR

Principal Investigator & Institution: Farber, Debora B.; Professor; Ophthalmology; University of California Los Angeles 10920 Wilshire Blvd., Suite 1200 Los Angeles, Ca 90024 Timing: Fiscal Year 2003; Project Start 01-JUL-2003; Project End 30-JUN-2007 Summary: (provided by applicant): Genetic mutations that alter ocular pigmentation produce abnormalities within the developing retina and visual pathways that cause permanent visual impairment. While much is known about the neural phenotype associated with ocular albinism (OA) and related hypopigmentation conditions affecting the retinal pigment epithelium (RPE), how these changes within the RPE affect the nervous system remain an enigma. This research program will directly address these

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issues, seeking an integrated understanding of the relationship between tyrosinase, melanin synthesis, OA1 signaling, G-protein activation and the downstream effectors that ultimately modulate gene expression in the neural retina. Novel inducible sitespecific recombination strategies for generating transgenic mice will be used that permit tissue-specific expression of desired genes at different times during development and control of transgene dosage. Three different Gi protein knockout mice will also be examined to define the Gi protein through which OA1 normally functions, and constitutively active Gi-expressing transgenic mice will be generated and then crossed to Oa1-knockout mice to see whether the Oa1-knockout phenotype can be rescued. The primary neural abnormality associated with ocular hypopigmentation is a defect in axonal navigation at the optic chiasm during development, manifested as a misrouting of optic axons from the temporal retina into the opposite side of the brain. The decussation patterns associated with the retinofugal pathways in these various transgenic and knockout mice will be defined using anterograde and retrograde tracttracing techniques, while various features associated with their RPE will be quantified, including the degree of tyrosinase expression, total melanin content and melanosomal morphology. Having identified the critical stages during development when an RPEderived signal affects the neural retina altering decussation patterns at the optic chiasm, a subtractive hybridization strategy combined with microarray analysis will be conducted to identify candidate genes involved in this signaling. Differences in gene expression within the neural retina and in RPE cells will be examined in Oa1-knockout and Gi-knockout mice relative to wild-type control mice, and then compared with patterns of differential gene expression derived from albino mice in which a tyrosinase transgene is activated or remains inactive. Using this combination of approaches drawing on the fields of developmental biology, molecular genetics and neuroanatomy, this research program will identify the critical signaling events initiated within the RPE and ultimately manifested at the optic chiasm. Our studies should lead to the development of new approaches for devising therapeutic strategies based on gene therapy or pharmacological manipulations of Gi signaling in order to prevent the visual impairments in ocular albinism and other hypopigmentation mutations. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen •

Project Title: X LINKED NYSTAGMUS SYNDROME WITH FEATURES OF ALBINISM Principal Investigator & Institution: Drack, Arlene; Emory University 1784 North Decatur Road Atlanta, Ga 30322 Timing: Fiscal Year 2001; Project Start 01-OCT-1974; Project End 30-NOV-2004 Summary: The primary purpose of this study is to determine if a specific family has Xlinked congenital stationary night blindness, X-linked ocular albinism or a combination of both symptoms and to determine the genetic locus. Website: http://crisp.cit.nih.gov/crisp/Crisp_Query.Generate_Screen

E-Journals: PubMed Central3 PubMed Central (PMC) is a digital archive of life sciences journal literature developed and managed by the National Center for Biotechnology Information (NCBI) at the U.S. National

3

Adapted from the National Library of Medicine: http://www.pubmedcentral.nih.gov/about/intro.html.

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Library of Medicine (NLM).4 Access to this growing archive of e-journals is free and unrestricted.5 To search, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Pmc, and type “albinism” (or synonyms) into the search box. This search gives you access to fulltext articles. The following is a sample of items found for albinism in the PubMed Central database: •

A Frequent Tyrosinase Gene Mutation in Classic, Tyrosinase-Negative (Type IA) Oculocutaneous Albinism. by Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA.; 1990 May 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=53878

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A Single Base Insertion in the Putative Transmembrane Domain of the Tyrosinase Gene as a Cause for Tyrosinase-Negative Oculocutaneous Albinism. by Chintamaneni CD, Halaban R, Kobayashi Y, Witkop CJ Jr, Kwon BS.; 1991 Jun 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=51854

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Chromosomal Deletions Around the Albino Locus in the Mouse Caused Loss of Hormone-inducible Expression of the Unlinked Structural Gene Encoding Cytosolic Aspartate Aminotransferase. by Lia M, Barouki R, Waelsch SG.; 1995 Jan 31; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=42705

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Endoplasmic reticulum retention is a common defect associated with tyrosinasenegative albinism. by Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN.; 2000 May 23; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=18529

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Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). by Menasche G, Ho CH, Sanal O, Feldmann J, Tezcan I, Ersoy F, Houdusse A, Fischer A, Basile GD.; 2003 Aug 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=166299

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Identification of a Melanosomal Membrane Protein Encoded by the Pink-Eyed Dilution (Type II Oculocutaneous Albinism) Gene. by Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ.; 1994 Dec 6; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=45378

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Identification of the Albino Mutation of Mouse Tyrosinase by Analysis of an in vitro Revertant. by Jackson IJ, Bennett DC.; 1990 Sep 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=54672

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Identification of the gregarization-associated dark-pigmentotropin in locusts through an albino mutant. by Tawfik AI, Tanaka S, De Loof A, Schoofs L, Baggerman G, Waelkens E, Derua R, Milner Y, Yerushalmi Y, Pener MP.; 1999 Jun 8; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&artid=22063

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With PubMed Central, NCBI is taking the lead in preservation and maintenance of open access to electronic literature, just as NLM has done for decades with printed biomedical literature. PubMed Central aims to become a world-class library of the digital age. 5 The value of PubMed Central, in addition to its role as an archive, lies in the availability of data from diverse sources stored in a common format in a single repository. Many journals already have online publishing operations, and there is a growing tendency to publish material online only, to the exclusion of print.

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Molecular Basis of Dark-Eyed Albinism in the Mouse. by Schmidt A, Beermann F.; 1994 May 24; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=43867

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Mosaic Expression of a Tyrosinase Fusion Gene in Albino Mice Yields a Heritable Striped Coat Color Pattern in Transgenic Homozygotes. by Mintz B, Bradl M.; 1991 Nov 1; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=52774

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Pharmacokinetics of ofloxacin in serum and vitreous humor of albino and pigmented rabbits. by Perkins RJ, Liu W, Drusano G, Madu A, Mayers M, Madu C, Miller MH.; 1995 Jul; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=exter nal&artid=162769

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Production of Germ-Line Chimeras in Zebrafish by Cell Transplants from Genetically Pigmented to Albino Embryos. by Lin S, Long W, Chen J, Hopkins N.; 1992 May 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=49114

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Regulatory Genes Linked to the Albino Locus in the Mouse Confer Competence for Inducible Expression on the Structural Gene Encoding Serine Dehydratase. by Lia M, Bali D, Gluecksohn-Waelsch S.; 1992 Mar 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=48676

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Selective Loss of a DNase I Hypersensitive Site Upstream of the Tyrosine Aminotransferase Gene in Mice Homozygous for Lethal Albino Deletions. by Zaret KS, Milos P, Lia M, Bali D, Gluecksohn-Waelsch S.; 1992 Jul 15; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=49537

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The Ocular Albinism Type 1 Gene Product is a Membrane Glycoprotein Localized to Melanosomes. by Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, Luca MD, Ballabio A.; 1996 Aug 20; http://www.pubmedcentral.gov/articlerender.fcgi?tool=pmcentrez&rendertype=abstr act&artid=38594

The National Library of Medicine: PubMed One of the quickest and most comprehensive ways to find academic studies in both English and other languages is to use PubMed, maintained by the National Library of Medicine.6 The advantage of PubMed over previously mentioned sources is that it covers a greater number of domestic and foreign references. It is also free to use. If the publisher has a Web site that offers full text of its journals, PubMed will provide links to that site, as well as to

6

PubMed was developed by the National Center for Biotechnology Information (NCBI) at the National Library of Medicine (NLM) at the National Institutes of Health (NIH). The PubMed database was developed in conjunction with publishers of biomedical literature as a search tool for accessing literature citations and linking to full-text journal articles at Web sites of participating publishers. Publishers that participate in PubMed supply NLM with their citations electronically prior to or at the time of publication.

22 Albinism

sites offering other related data. User registration, a subscription fee, or some other type of fee may be required to access the full text of articles in some journals. To generate your own bibliography of studies dealing with albinism, simply go to the PubMed Web site at http://www.ncbi.nlm.nih.gov/pubmed. Type “albinism” (or synonyms) into the search box, and click “Go.” The following is the type of output you can expect from PubMed for albinism (hyperlinks lead to article summaries): •

A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population. Author(s): Yi Z, Garrison N, Cohen-Barak O, Karafet TM, King RA, Erickson RP, Hammer MF, Brilliant MH. Source: American Journal of Human Genetics. 2003 January; 72(1): 62-72. Epub 2002 December 05. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12469324&dopt=Abstract

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A decisive electrophysiological test for human albinism. Author(s): Apkarian P, Reits D, Spekreijse H, Van Dorp D. Source: Electroencephalography and Clinical Neurophysiology. 1983 May; 55(5): 513-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6187545&dopt=Abstract

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A dinucleotide deletion (-delta GA115) in the tyrosinase gene responsible for type I-A (tyrosinase negative) oculocutaneous albinism in a Pakistani individual. Author(s): Oetting WS, Fryer JP, King RA. Source: Human Molecular Genetics. 1993 July; 2(7): 1047-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8364542&dopt=Abstract

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A family pedigree with corneal dystrophy, tapetoretinal degeneration and albinism. Author(s): Pinckers A, Otto AJ, Van den Heuvel JE. Source: Acta Ophthalmol (Copenh). 1973; 51(4): 445-60. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4543597&dopt=Abstract

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A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico. Author(s): Oetting WS, Witkop CJ Jr, Brown SA, Colomer R, Fryer JP, Bloom KE, King RA. Source: American Journal of Human Genetics. 1993 January; 52(1): 17-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8434585&dopt=Abstract

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A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Author(s): Giebel LB, Strunk KM, King RA, Hanifin JM, Spritz RA. Source: Proceedings of the National Academy of Sciences of the United States of America. 1990 May; 87(9): 3255-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1970634&dopt=Abstract

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A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Author(s): Rinchik EM, Bultman SJ, Horsthemke B, Lee ST, Strunk KM, Spritz RA, Avidano KM, Jong MT, Nicholls RD. Source: Nature. 1993 January 7; 361(6407): 72-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8421497&dopt=Abstract

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A hereditary syndrome association of oculocutaneous albinism, dysmorphic features and short stature. Author(s): Bitoun P, Morel-Charron J. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 209-13. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280979&dopt=Abstract

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A high-frequency albinism variant on the gulf coast of Papua. Author(s): Hall AJ, Sesebe T, Lopes Cardozo R, Nurse GT. Source: P N G Med J. 1981 March; 24(1): 35-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6945771&dopt=Abstract

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A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. Author(s): Dube P, Der Kaloustian VM, Demczuk S, Saabti H, Koenekoop RK. Source: Ophthalmic Genetics. 2000 December; 21(4): 211-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11135491&dopt=Abstract

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A new form of albinism. Author(s): Bergsma DR, Kaiser-Kupfer M. Source: American Journal of Ophthalmology. 1974 June; 77(6): 837-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4833873&dopt=Abstract

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A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. Author(s): Giebel LB, Musarella MA, Spritz RA. Source: Journal of Medical Genetics. 1991 July; 28(7): 464-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1832718&dopt=Abstract

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A novel mutation of the tyrosinase gene causing oculocutaneous albinism type 1 (OCA1). Author(s): Nakamura E, Miyamura Y, Matsunaga J, Kano Y, Dakeishi-Hara M, Tanita M, Kono M, Tomita Y. Source: Journal of Dermatological Science. 2002 February; 28(2): 102-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11858948&dopt=Abstract

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A psychosocial study of albinism in a predominantly Mulatto Caribbean community. Author(s): Westhoff W. Source: Psychological Reports. 1993 December; 73(3 Pt 1): 1007-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8302974&dopt=Abstract

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A single base insertion in the putative transmembrane domain of the tyrosinase gene as a cause for tyrosinase-negative oculocutaneous albinism. Author(s): Chintamaneni CD, Halaban R, Kobayashi Y, Witkop CJ Jr, Kwon BS. Source: Proceedings of the National Academy of Sciences of the United States of America. 1991 June 15; 88(12): 5272-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1711223&dopt=Abstract

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A splicing mutation of the tyrosinase gene causes yellow oculocutaneous albinism in a Japanese patient with a pigmented phenotype. Author(s): Matsunaga J, Dakeishi-Hara M, Tanita M, Nindl M, Nagata Y, Nakamura E, Miyamura Y, Kikuchi K, Furue M, Tomita Y. Source: Dermatology (Basel, Switzerland). 1999; 199(2): 124-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10559577&dopt=Abstract

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A study of murine albinism using tyrosinase cDNA. Author(s): Shibahara S. Source: Prog Clin Biol Res. 1988; 256: 263-71. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3130638&dopt=Abstract

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A submicroscopic deletion in a patient with isolated X-linked ocular albinism (OA1). Author(s): Bassi MT, Bergen AA, Wapenaar MC, Schiaffino MV, van Schooneveld M, Yates JR, Charles SJ, Meitinger T, Ballabio A. Source: Human Molecular Genetics. 1994 April; 3(4): 647-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8069311&dopt=Abstract

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A syndrome associating partial albinism and immunodeficiency. Author(s): Griscelli C, Durandy A, Guy-Grand D, Daguillard F, Herzog C, Prunieras M. Source: The American Journal of Medicine. 1978 October; 65(4): 691-702. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=707528&dopt=Abstract

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A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. Author(s): Giebel LB, Tripathi RK, King RA, Spritz RA. Source: The Journal of Clinical Investigation. 1991 March; 87(3): 1119-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1900309&dopt=Abstract

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Abnormal visual pathways in normally pigmented cats that are heterozygous for albinism. Author(s): Leventhal AG, Vitek DJ, Creel DJ. Source: Science. 1985 September 27; 229(4720): 1395-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3929383&dopt=Abstract

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Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl. Author(s): Baumeister FA, Stachel D, Schuster F, Schmid I, Schaller M, Wolff H, Weiss M, Belohradsky BH. Source: European Journal of Pediatrics. 2000 January-February; 159(1-2): 74-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10653334&dopt=Abstract

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African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism. Author(s): Durham-Pierre D, Gardner JM, Nakatsu Y, King RA, Francke U, Ching A, Aquaron R, del Marmol V, Brilliant MH. Source: Nature Genetics. 1994 June; 7(2): 176-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7920637&dopt=Abstract

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Aiding the vision in albinism--optical and non-optical means considered. Author(s): Taylor WO. Source: Trans Ophthalmol Soc U K. 1985; 104 ( Pt 3): 309-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2411029&dopt=Abstract

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Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia. Author(s): Pillers DA, Weleber RG, Powell BR, Hanna CE, Magenis RE, Buist NR. Source: American Journal of Medical Genetics. 1990 May; 36(1): 23-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2159212&dopt=Abstract

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Albinism and abnormal platelet function. Author(s): Logan LJ, Rapaport SI, Maher I. Source: The New England Journal of Medicine. 1971 June 17; 284(24): 1340-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5576453&dopt=Abstract

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Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Author(s): del Campo M, Hall BD, Aeby A, Nassogne MC, Verloes A, Roche C, Gonzalez C, Sanchez H, Garcia-Alix A, Cabanas F, Escudero RM, Hernandez R, Quero J. Source: American Journal of Medical Genetics. 1999 August 27; 85(5): 479-85. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10405446&dopt=Abstract

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Albinism and amelanotic melanoma: occurrence in a child with positive test results for tyrosinase. Author(s): Wood C, Graham D, Willsen J, Strefling A. Source: Archives of Dermatology. 1982 April; 118(4): 283-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6802075&dopt=Abstract

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Albinism and anatomy. Author(s): Smith R. Source: The British Journal of Ophthalmology. 1990 March; 74(3): 130. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2322506&dopt=Abstract

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Albinism and colour defects. Author(s): Taylor WO. Source: Mod Probl Ophthalmol. 1976; 17: 292-8. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1085881&dopt=Abstract

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Albinism and evoked potentials: factors in the selection of infrahuman models in predicting the human response to neurotoxic agents. Author(s): Creel DJ. Source: Neurobehav Toxicol Teratol. 1984 November-December; 6(6): 447-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6531050&dopt=Abstract

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Albinism and Hermansky-Pudlak syndrome in Puerto Rico. Author(s): Witkop CJ, Nunez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F, Harmon KR, Townsend D, Sedano HO, King RA, et al. Source: Bol Asoc Med P R. 1990 August; 82(8): 333-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2261023&dopt=Abstract

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Albinism and immunity: what's the link? Author(s): Griffiths GM. Source: Current Molecular Medicine. 2002 August; 2(5): 479-83. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12125813&dopt=Abstract

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Albinism and melanocytes. Author(s): Doc Ophthalmol. 2001 Nov;103(3):35-46 Source: The Journal of Audiovisual Media in Medicine. 2001 September; 24(3): 127-9. /entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=11824661

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Albinism and schizophreniform psychosis: a pedigree study. Author(s): Baron M. Source: The American Journal of Psychiatry. 1976 September; 133(9): 1070-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=961931&dopt=Abstract

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Albinism and skin cancer in Southern Africa. Author(s): Kromberg JG, Castle D, Zwane EM, Jenkins T. Source: Clinical Genetics. 1989 July; 36(1): 43-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2766562&dopt=Abstract

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Albinism and the associated ocular defects. Author(s): Oetting WS, Summers CG, King RA. Source: Metab Pediatr Syst Ophthalmol. 1994; 17(1-4): 5-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8719278&dopt=Abstract

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Albinism and unialbinism in twin Cameroonian negroes. Author(s): Aquaron R, Giraud F, Battaglini P. Source: Prog Clin Biol Res. 1978; 24 Pt C: 71-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=569333&dopt=Abstract

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Albinism and visual pathways. Author(s): Drager UC. Source: The New England Journal of Medicine. 1986 June 19; 314(25): 1636-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3713761&dopt=Abstract

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Albinism in a full-blood Aboriginal child. Author(s): Walker AC. Source: The Medical Journal of Australia. 1969 November 29; 2(22): 1105. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5374045&dopt=Abstract

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Albinism in blacks--aberrant circadian plasma immunoreactive melatonin levels. Author(s): Oosthuizen JM, Theron JJ, Meyer AC, Rautenbach MM. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1983 October 15; 64(17): 651-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6623264&dopt=Abstract

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Albinism in childhood: a flash VEP and ERG study. Author(s): Russell-Eggitt I, Kriss A, Taylor DS. Source: The British Journal of Ophthalmology. 1990 March; 74(3): 136-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2322509&dopt=Abstract

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Albinism in England. Author(s): Jay B, Witkop CJ, King RA. Source: Birth Defects Orig Artic Ser. 1982; 18(6): 319-25. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6816306&dopt=Abstract

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Albinism in Nigeria with delineation of new recessive oculocutaneous type. Author(s): King RA, Creel D, Cervenka J, Okoro AN, Witkop CJ. Source: Clinical Genetics. 1980 April; 17(4): 259-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6768477&dopt=Abstract

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Albinism in Nigeria. A clinical and social study. Author(s): Okoro AN. Source: The British Journal of Dermatology. 1975 May; 92(5): 485-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1174464&dopt=Abstract

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Albinism in South African blacks. Author(s): Kromberg JG, Zwane E, Castle D, Jenkins T. Source: Lancet. 1987 August 15; 2(8555): 388-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2886838&dopt=Abstract

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Albinism in the South African Negro. III. Genetic counselling issues. Author(s): Kromberg JG, Jenkins T. Source: Journal of Biosocial Science. 1984 January; 16(1): 99-108. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6699045&dopt=Abstract

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Albinism in the South African Negro: IV. Attitudes and the death myth. Author(s): Kromberg J. Source: Birth Defects Orig Artic Ser. 1992; 28(1): 159-66. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1340226&dopt=Abstract

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Albinism in White Leghorn chickens. Author(s): Bitgood JJ, Smyth JR Jr. Source: Poultry Science. 1991 September; 70(9): 1861-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1780254&dopt=Abstract

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Albinism with Axenfeld's syndrome. Author(s): Hales RH. Source: Rocky Mt Med J. 1968 February; 65(2): 51-2. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5636314&dopt=Abstract

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Albinism with haemorrhagic diathesis: Hermansky-Pudlak syndrome. Author(s): Kinnear PE, Tuddenham EG. Source: The British Journal of Ophthalmology. 1985 December; 69(12): 904-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4084482&dopt=Abstract

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Albinism, bleeding tendency and abnormal pigmented cells in the bone marrow: a case report. Author(s): Muniz FJ, Fradera J, Maldonado N, Perez-Santiago E. Source: Tex Rep Biol Med. 1970 Spring; 28(1): 167-73. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5312384&dopt=Abstract

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Albinism, or the NOACH syndrome (the book of Enoch c.v. 1-20). Author(s): van Dorp DB. Source: Clinical Genetics. 1987 April; 31(4): 228-42. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3109790&dopt=Abstract

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Albinism, skin carcinoma and chromosome aberrations. Author(s): Freire-Maia N, Cavalli IJ. Source: Clinical Genetics. 1980 January; 17(1): 46-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7389186&dopt=Abstract

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Albinism. Author(s): Oetting WS. Source: Current Opinion in Pediatrics. 1999 December; 11(6): 565-71. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10590917&dopt=Abstract

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Albinism. Author(s): Haefemeyer JW, Knuth JL. Source: J Ophthalmic Nurs Technol. 1991 March-April; 10(2): 55-62. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2020024&dopt=Abstract

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Albinism. Author(s): Witkop CJ Jr. Source: Clinics in Dermatology. 1989 April-June; 7(2): 80-91. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2667743&dopt=Abstract

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Albinism. Author(s): King RA, Summers CG. Source: Dermatologic Clinics. 1988 April; 6(2): 217-28. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3288382&dopt=Abstract

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Albinism. Author(s): Kinnear PE, Jay B, Witkop CJ Jr. Source: Survey of Ophthalmology. 1985 September-October; 30(2): 75-101. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3934778&dopt=Abstract

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Albinism. Author(s): Francois J. Source: Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde. 1979; 178(1-2): 19-31. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=108645&dopt=Abstract

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Albinism. Author(s): Shepard MK, Ward WQ, Hambrick GW Jr. Source: Birth Defects Orig Artic Ser. 1971 June; 7(8): 224-6. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5173263&dopt=Abstract

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Albinism. Author(s): Witkop CJ Jr. Source: Adv Hum Genet. 1971; 2: 61-142. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5005925&dopt=Abstract

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Albinism. Author(s): Russell-Eggitt I. Source: Ophthalmology Clinics of North America. 2001 September; 14(3): 533-46. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11705153&dopt=Abstract

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Albinism. Author(s): McHam ML, Fulton A. Source: International Ophthalmology Clinics. 1992 Winter; 32(1): 185-200. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1537658&dopt=Abstract

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Albinism. Recent advances. Author(s): Jay B, Carroll W. Source: Trans Ophthalmol Soc U K. 1980; 100(4): 467-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6797109&dopt=Abstract

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Albinism: an update and review of the literature. Author(s): Lyle WM, Sangster JO, Williams TD. Source: J Am Optom Assoc. 1997 October; 68(10): 623-45. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9354055&dopt=Abstract

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Albinism: an update. Author(s): Orlow SJ. Source: Semin Cutan Med Surg. 1997 March; 16(1): 24-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9125762&dopt=Abstract

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Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. Author(s): Witkop CJ. Source: Ala J Med Sci. 1979 October; 16(4): 327-30. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=546241&dopt=Abstract

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Albinism: its implications for refractive development. Author(s): Wildsoet CF, Oswald PJ, Clark S. Source: Investigative Ophthalmology & Visual Science. 2000 January; 41(1): 1-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10634592&dopt=Abstract

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Albinism: modern molecular diagnosis. Author(s): Carden SM, Boissy RE, Schoettker PJ, Good WV. Source: The British Journal of Ophthalmology. 1998 February; 82(2): 189-95. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9613388&dopt=Abstract

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Albinism: phenotype or genotype? Author(s): van Dorp DB, van Haeringen NJ, Delleman JW, Apkarian P, Westerhof W. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 1983 December 15; 56(1-2): 183-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6420133&dopt=Abstract

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Albinism--a clinician's low vision perspective. Author(s): Hoeft WW. Source: J Am Optom Assoc. 1991 January; 62(1): 69-72. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1813496&dopt=Abstract

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Albinoidism and albinism. Author(s): Gragg GW. Source: Birth Defects Orig Artic Ser. 1971 March; 7(3): 203-4. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5173147&dopt=Abstract

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Allelism in human oculocutaneous albinism. Author(s): Warren ST. Source: American Journal of Human Genetics. 1981 May; 33(3): 479-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6787918&dopt=Abstract

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Amelanotic melanoma in a child with oculocutaneous albinism. Author(s): Terenziani M, Spreafico F, Serra A, Podda M, Cereda S, Belli F. Source: Medical and Pediatric Oncology. 2003 August; 41(2): 179-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12825234&dopt=Abstract

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Amelanotic metastatic melanoma in a patient with oculocutaneous albinism. Author(s): Ihn H, Nakamura K, Abe M, Furue M, Takehara K, Nakagawa H, Ishibashi Y. Source: Journal of the American Academy of Dermatology. 1993 May; 28(5 Pt 2): 895900. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8491890&dopt=Abstract

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Amish albinism: a distinctive autosomal recessive phenotype. Author(s): Nance WE, Jackson CE, Witkop CJ Jr. Source: American Journal of Human Genetics. 1970 September; 22(5): 579-86. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5516239&dopt=Abstract

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An intragenic deletion of the P gene is the common mutation causing tyrosinasepositive oculocutaneous albinism in southern African Negroids. Author(s): Stevens G, van Beukering J, Jenkins T, Ramsay M. Source: American Journal of Human Genetics. 1995 March; 56(3): 586-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7887411&dopt=Abstract

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An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry. Author(s): Schnur RE, Trask BJ, van den Engh G, Punnett HH, Kistenmacher M, Tomeo MA, Naids RE, Nussbaum RL. Source: American Journal of Human Genetics. 1989 November; 45(5): 706-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2573275&dopt=Abstract

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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic disorders: implications for the mapping of X linked ocular albinism. Author(s): Meindl A, Hosenfeld D, Bruckl W, Schuffenhauer S, Jenderny J, Bacskulin A, Oppermann HC, Swensson O, Bouloux P, Meitinger T. Source: Journal of Medical Genetics. 1993 October; 30(10): 838-42. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8230160&dopt=Abstract

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Analysis of mutations in the copper B binding region associated with type I (tyrosinase-related) oculocutaneous albinism. Author(s): Oetting WS, King RA. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1992 November; 5(5 Pt 2): 274-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1292009&dopt=Abstract

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Analysis of tyrosinase mutations associated with tyrosinase-related oculocutaneous albinism (OCA1). Author(s): Oetting WS, King RA. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1994 October; 7(5): 285-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7886000&dopt=Abstract

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Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Author(s): Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH Jr. Source: Human Molecular Genetics. 1997 May; 6(5): 659-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9158138&dopt=Abstract

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Aspects of albinism. Author(s): Kriss A, Russell-Eggitt I, Harris CM, Lloyd IC, Taylor D. Source: Ophthalmic Paediatr Genet. 1992 June; 13(2): 89-100. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1495771&dopt=Abstract

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Assessment and educational implications of albinism. Author(s): Keeffe JE. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 215-24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280980&dopt=Abstract

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Autofluorescence image in ocular albinism. Author(s): Rodanant N, Bartsch DU, Bessho K, Freeman WR. Source: Retina (Philadelphia, Pa.). 2003 April; 23(2): 265-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12707618&dopt=Abstract

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Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Author(s): Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Source: Nature Genetics. 1995 January; 9(1): 92-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7704033&dopt=Abstract

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Autosomal recessive oculocutaneous albinism in man. Evidence for genetic heterogeneity. Author(s): Witkop CJ Jr, Nance WE, Rawls RF, White JG. Source: American Journal of Human Genetics. 1970 January; 22(1): 55-74. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4983623&dopt=Abstract

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Autosomal recessively inherited ocular albinism. A new form of ocular albinism affecting females as severely as males. Author(s): O'Donnell FE Jr, King RA, Green WR, Witkop CJ Jr. Source: Archives of Ophthalmology. 1978 September; 96(9): 1621-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=687204&dopt=Abstract

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Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome. Author(s): Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M. Source: American Journal of Medical Genetics. 1995 April 10; 56(3): 322-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7778600&dopt=Abstract

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Bilateral abortive cryptophthalmos associated with oculocutaneous albinism. Author(s): Ucakhan OO, Atmaca L, Sayli BS, Sayar C, Firat E. Source: Acta Ophthalmologica Scandinavica. 1999 April; 77(2): 238-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10321549&dopt=Abstract

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Biochemical aspects of human albinism. Author(s): Winder AF, Jay B, Kissun RD. Source: Birth Defects Orig Artic Ser. 1976; 12(3): 427-40. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=821564&dopt=Abstract

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Bleeding tendency with platelet dysfunction and albinism. A case report. Author(s): Murakami M, Odake K, Matsuda T, Manmi S, Takase M. Source: Thromb Diath Haemorrh. 1972 July 31; 27(3): 461-71. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4662611&dopt=Abstract

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Brown oculocutaneous albinism. Clinical, ophthalmological, and biochemical characterization. Author(s): King RA, Lewis RA, Townsend D, Zelickson A, Olds DP, Brumbaugh J. Source: Ophthalmology. 1985 November; 92(11): 1496-505. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3935994&dopt=Abstract

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Browning of the lens in generalized albinism. Author(s): Sears ML. Source: American Journal of Ophthalmology. 1974 June; 77(6): 819-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4209154&dopt=Abstract

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Can oculocutaneous albinism be diagnosed prenatally? Author(s): Haynes ME, Robertson E. Source: Prenatal Diagnosis. 1981 April; 1(2): 85-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7346821&dopt=Abstract

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Carrier detection in X linked ocular albinism using linked DNA polymorphisms. Author(s): Charles SJ, Moore AT, Zhang Y, McMahon R, Barton DE, Yates JR. Source: The British Journal of Ophthalmology. 1994 July; 78(7): 539-41. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7918264&dopt=Abstract

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Carrier detection in X-linked ocular albinism of the Nettleship-Falls type by DNA analysis. Author(s): Bergen AA, Schuurman EJ, van den Born LI, Samanns C, van Dorp DB, Pinckers AJ, Bakker E, van Ommen GJ, Gal A, Bleeker-Wagemakers EM. Source: Clinical Genetics. 1992 March; 41(3): 135-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1348665&dopt=Abstract

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Cerebellar ataxia and total albinism. Author(s): Bamezai R, Husain SA, Misra S, Thacker AK. Source: Clinical Genetics. 1987 March; 31(3): 178-81. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3568445&dopt=Abstract

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Cerebellar ataxia and total albinism: a kindred suggesting pleitotropism or linkage. Author(s): Skre H, Berg K. Source: Clinical Genetics. 1974; 5(3): 196-204. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4838888&dopt=Abstract

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Chiasmal coefficient of flash and pattern visual evoked potentials for detection of chiasmal misrouting in albinism. Author(s): Pott JW, Jansonius NM, Kooijman AC. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 2003 March; 106(2): 137-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12678278&dopt=Abstract

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Childhood albinism. Visual electrophysiological features. Author(s): Kriss A, Russell-Eggitt I, Taylor D. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 185-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280976&dopt=Abstract

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Classification of albinism in man. Author(s): Witkop CJ Jr, White JG, Nance WE, Jackson CE, Desnick S. Source: Birth Defects Orig Artic Ser. 1971 June; 7(8): 13-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5173257&dopt=Abstract

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Clinical and molecular characterization of a family affected with X-linked ocular albinism (OA1) Author(s): Lam BL, Fingert JH, Shutt BC, Singleton EM, Merin LM, Brown HH, Sheffield VC, Stone EM. Source: Ophthalmic Genetics. 1997 December; 18(4): 175-84. Erratum In: Ophthalmic Genet 1998 September; 19(3): 173. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9457748&dopt=Abstract

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Clinical features of affected males with X linked ocular albinism. Author(s): Charles SJ, Green JS, Grant JW, Yates JR, Moore AT. Source: The British Journal of Ophthalmology. 1993 April; 77(4): 222-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8494858&dopt=Abstract

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Cloning and sequence analysis of the tyrosinase gene from a patient with tyrosinasepositive oculocutaneous albinism. Author(s): Matsunaga J, Takeda A, Tomita Y, Hara M, Shibahara S, Tagami H. Source: Journal of Dermatological Science. 1992 May; 3(3): 181-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1498098&dopt=Abstract

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Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region. Author(s): Schiaffino MV, Bassi MT, Rugarli EI, Renieri A, Galli L, Ballabio A. Source: Human Molecular Genetics. 1995 March; 4(3): 373-82. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7795590&dopt=Abstract

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Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Author(s): Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A. Source: Nature Genetics. 1995 May; 10(1): 13-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7647783&dopt=Abstract

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Cloning of the murine homolog of the ocular albinism type 1 (OA1) gene: sequence, genomic structure, and expression analysis in pigment cells. Author(s): Bassi MT, Incerti B, Easty DJ, Sviderskaya EV, Ballabio A. Source: Genome Research. 1996 September; 6(9): 880-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8889556&dopt=Abstract

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Comparative genetics of albinism. Author(s): Searle AG. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 159-64. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2126367&dopt=Abstract

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Comparison of techniques for detecting visually evoked potential asymmetry in albinism. Author(s): Soong F, Levin AV, Westall CA. Source: J Aapos. 2000 October; 4(5): 302-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11040481&dopt=Abstract

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Concurrence of anorexia nervosa and yellow mutant albinism. Author(s): Kelly JT, Rohde J, Witkop CJ Jr, Johannes A. Source: Journal of Medical Genetics. 1980 February; 17(1): 68-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7365767&dopt=Abstract

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Configuration of the optic chiasm in humans with albinism as revealed by magnetic resonance imaging. Author(s): Schmitz B, Schaefer T, Krick CM, Reith W, Backens M, Kasmann-Kellner B. Source: Investigative Ophthalmology & Visual Science. 2003 January; 44(1): 16-21. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12506050&dopt=Abstract

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Congenital iris ectropion associated with ocular albinism, foveal hypoplasia, and keratoconjunctivitis sicca. Author(s): Davitt BV, Summers CG. Source: J Aapos. 1997 September; 1(3): 180-2. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10532783&dopt=Abstract

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Copper metabolism study in oculocutaneous albinism. Author(s): Silverstone B, Mendelsohn D. Source: Metab Pediatr Syst Ophthalmol. 1983; 7(2): 95-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6656620&dopt=Abstract

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Correlation of visual acuity and ocular pigmentation with the 16-bp duplication in the HPS-1 gene of Hermansky-Pudlak syndrome, a form of albinism. Author(s): Iwata F, Reed GF, Caruso RC, Kuehl EM, Gahl WA, Kaiser-Kupfer MI. Source: Ophthalmology. 2000 April; 107(4): 783-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10768343&dopt=Abstract

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Cuna Moon-child albinism, 1950-1970. Author(s): Keeler C. Source: The Journal of Heredity. 1970 November-December; 61(6): 273-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5512134&dopt=Abstract

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Cutaneous malignancy in albinism. Author(s): Perry PK, Silverberg NB. Source: Cutis; Cutaneous Medicine for the Practitioner. 2001 May; 67(5): 427-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11381862&dopt=Abstract

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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Author(s): d'Addio M, Pizzigoni A, Bassi MT, Baschirotto C, Valetti C, Incerti B, Clementi M, De Luca M, Ballabio A, Schiaffino MV. Source: Human Molecular Genetics. 2000 December 12; 9(20): 3011-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11115845&dopt=Abstract

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Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus. Author(s): Bouloux PM, Kirk J, Munroe P, Duke V, Meindl A, Hilson A, Grant D, Carter N, Betts D, Meitinger T, et al. Source: Clinical Genetics. 1993 April; 43(4): 169-73. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8330450&dopt=Abstract

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Detection of heterozygotes for tyrosinase-negative oculocutaneous albinism by hairbulb tyrosinase assay. Author(s): King RA, Witkop CJ. Source: American Journal of Human Genetics. 1977 March; 29(2): 164-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=15451&dopt=Abstract

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Detection of mutations in the tyrosinase gene in a patient with type IA oculocutaneous albinism. Author(s): Spritz RA, Strunk KM, Giebel LB, King RA. Source: The New England Journal of Medicine. 1990 June 14; 322(24): 1724-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2342539&dopt=Abstract

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Developmental glaucoma in oculocutaneous albinism. Author(s): Larkin DF, O'Donoghue HN. Source: Ophthalmic Paediatr Genet. 1988 March; 9(1): 1-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3405588&dopt=Abstract

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Diagnosis of oculocutaneous albinism with molecular analysis. Author(s): Summers CG, Oetting WS, King RA. Source: American Journal of Ophthalmology. 1996 June; 121(6): 724-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8644824&dopt=Abstract

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Diagnostic and therapeutic challenges. A 50-year-old woman with oculocutaneous albinism (OCA) and Type II diabetes mellitus (DM) reported bilateral progressive visual loss, especially during the last month. Author(s): McDonald HR. Source: Retina (Philadelphia, Pa.). 2001; 21(4): 367-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11508884&dopt=Abstract

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Diagnostic DNA testing for X-linked ocular albinism (OA1) with a hierarchical mutation screening protocol. Author(s): Hegde M, Lewis RA, Richards CS. Source: Genetic Testing. 2002 Spring; 6(1): 7-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12180081&dopt=Abstract

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Differentiation of heterozygotes in recessive albinism. Author(s): Roberts DF, Kromberg JG, Jenkins T. Source: Journal of Medical Genetics. 1986 August; 23(4): 323-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3091836&dopt=Abstract

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Disc electrophoretic patterns of human serum proteins in extensive vitiligo and albinism. Author(s): Shroff JC, Shah HJ, Chakravarti BP, Agarwal VK. Source: Indian Journal of Medical Sciences. 1973 January; 27(1): 86-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4121161&dopt=Abstract

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Disorders of the fundus. Albinism. Author(s): Carr RE, Noble KG, Siegel IM. Source: Ophthalmology. 1981 April; 88(4): 377-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7254784&dopt=Abstract

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Distribution of oculocutaneous albinism in Zimbabwe. Author(s): Lund PM. Source: Journal of Medical Genetics. 1996 August; 33(8): 641-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8863154&dopt=Abstract

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Diverse mutations of the P gene among African-Americans with type II (tyrosinasepositive) oculocutaneous albinism (OCA2). Author(s): Lee ST, Nicholls RD, Schnur RE, Guida LC, Lu-Kuo J, Spinner NB, Zackai EH, Spritz RA. Source: Human Molecular Genetics. 1994 November; 3(11): 2047-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7874125&dopt=Abstract

40 Albinism

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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Author(s): Bassi MT, Bergen AA, Bitoun P, Charles SJ, Clementi M, Gosselin R, Hurst J, Lewis RA, Lorenz B, Meitinger T, Messiaen L, Ramesar RS, Ballabio A, Schiaffino MV. Source: Human Genetics. 2001 January; 108(1): 51-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11214907&dopt=Abstract

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DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). Author(s): Falik-Borenstein TC, Holmes SA, Borochowitz Z, Levin A, Rosenmann A, Spritz RA. Source: Prenatal Diagnosis. 1995 April; 15(4): 345-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7617575&dopt=Abstract

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DNA-based prenatal diagnosis of a Korean family with tyrosinase-related oculocutaneous albinism (OCA1). Author(s): Lee ST, Park SK, Lee H, Lee JS, Park YW. Source: Jpn J Hum Genet. 1997 December; 42(4): 499-505. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9560949&dopt=Abstract

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Do pigmented naevi in albinism provide evidence of tyrosinase positivity? Author(s): Akiyama M, Shimizu H, Sugiura M, Nishikawa T. Source: The British Journal of Dermatology. 1992 December; 127(6): 649-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1476926&dopt=Abstract

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Dopa reaction test in hair bulbs of fetuses and its application to the prenatal diagnosis of albinism. Author(s): Gershoni-Baruch R, Benderly A, Brandes JM, Gilhar A. Source: Journal of the American Academy of Dermatology. 1991 February; 24(2 Pt 1): 220-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1901069&dopt=Abstract

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Duane syndrome associated with oculocutaneous albinism. Author(s): Holmes JM, Cronin CM. Source: Journal of Pediatric Ophthalmology and Strabismus. 1991 January-February; 28(1): 32-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2019956&dopt=Abstract

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Dyschromatosis universalis with X-linked ocular albinism. Author(s): Yang JH, Wong CK. Source: Clinical and Experimental Dermatology. 1991 November; 16(6): 436-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1806318&dopt=Abstract

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Dyskeratosis congenita associated with elevated fetal hemoglobin, X-linked ocular albinism, and juvenile-onset diabetes mellitus. Author(s): Reichel M, Grix AC, Isseroff RR. Source: Pediatric Dermatology. 1992 June; 9(2): 103-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1376473&dopt=Abstract

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Dysplastic nevus syndrome with multiple primary amelanotic melanomas in oculocutaneous albinism. Author(s): Pehamberger H, Honigsmann H, Wolff K. Source: Journal of the American Academy of Dermatology. 1984 October; 11(4 Pt 2): 7315. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6490997&dopt=Abstract

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Dyspnea in a 30-year-old Hispanic man with albinism. Author(s): Horowitz ID. Source: Chest. 1995 October; 108(4): 1158-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7555131&dopt=Abstract

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Edridge-Green Lecture, 1978. Visual disabilities of oculocutaneous albinism and their alleviation. Author(s): Taylor WO. Source: Trans Ophthalmol Soc U K. 1978; 98(4): 423-45. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=115122&dopt=Abstract

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Educational and vocational placement, and low-vision corrections in albinism. A report bases on 253 patients. Author(s): Fonda G, Thomas H, Gore GV 3rd. Source: Sight Sav Rev. 1971; 41(7): 29-36. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5563161&dopt=Abstract

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Electron microscopic DOPA reaction test for oculocutaneous albinism. Author(s): Takizawa Y, Kato S, Matsunaga J, Aozaki R, Tomita Y, Nishikawa T, Shimizu H. Source: Archives of Dermatological Research. 2000 June; 292(6): 301-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10929771&dopt=Abstract

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Electronystagmographic investigation in X-linked ocular albinism. Author(s): Salati R, Magni R, Musolino M, Nucci P, Polenghi F. Source: Ophthalmic Genetics. 1997 December; 18(4): 209-15. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9457752&dopt=Abstract

42 Albinism

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Electroretinographic findings in human oculocutaneous albinism. Author(s): Wack MA, Peachey NS, Fishman GA. Source: Ophthalmology. 1989 December; 96(12): 1778-85. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2516301&dopt=Abstract

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Endoplasmic reticulum retention is a common defect associated with tyrosinasenegative albinism. Author(s): Halaban R, Svedine S, Cheng E, Smicun Y, Aron R, Hebert DN. Source: Proceedings of the National Academy of Sciences of the United States of America. 2000 May 23; 97(11): 5889-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10823941&dopt=Abstract

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Epidermal melanocytes in normal and tyrosinase-negative oculocutaneous albinism fetuses. Author(s): Kikuchi A, Shimizu H, Nishikawa T. Source: Archives of Dermatological Research. 1995; 287(6): 529-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7487137&dopt=Abstract

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Eumelanin and pheomelanin contents in hair and 5-S-cysteinyldopa and 5-hydroxy-6methoxyindole-2-carboxylic acid levels in urine in Japanese oculocutaneous albinism. Author(s): Saito N, Morishima T. Source: Archives of Dermatological Research. 1991; 283(1): 7-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2059060&dopt=Abstract

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Evoked potential analysis of visual pathways in human albinism. Author(s): Bouzas EA, Caruso RC, Drews-Bankiewicz MA, Kaiser-Kupfer MI. Source: Ophthalmology. 1994 February; 101(2): 309-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8115151&dopt=Abstract

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Exclusion of two candidate pigment loci, c and b, part of chromosome 11p, and 33 random polymorphic markers as the locus for tyrosinase-positive oculocutaneous albinism. Author(s): Colman MA, Stevens G, Ramsay M, Kwon B, Jenkins T. Source: Human Genetics. 1993 January; 90(5): 556-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8428754&dopt=Abstract

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Eye movement changes in albinism--a case report with electronystagmographic findings. Author(s): Choi YC, Kim SK, Lee SH, Lee MS, Choi IS, Chung UK. Source: Yonsei Medical Journal. 1993 June; 34(2): 195-200. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8379199&dopt=Abstract

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Familial association of albinism and schizophrenia. Author(s): Clarke DJ, Buckley ME. Source: The British Journal of Psychiatry; the Journal of Mental Science. 1989 October; 155: 551-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2611578&dopt=Abstract

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Familial diffuse interstitial pulmonary fibrosis associated with oculocutaneous albinism. Report of two cases with a family study. Author(s): Hoste P, Willams J, Devriendt J, Lamont H, van der Straeten M. Source: Scand J Respir Dis. 1979 June; 60(3): 128-34. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=493902&dopt=Abstract

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Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. A new syndrome. Author(s): Davies BH, Tuddenham EG. Source: The Quarterly Journal of Medicine. 1976 April; 45(178): 219-32. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=940919&dopt=Abstract

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Forsius-Eriksson syndrome: its relation to the Nettleship-Falls X-linked ocular albinism. Author(s): O'Donnell FE, Green WR, McKusick VA, Forsius H, Eriksson AW. Source: Clinical Genetics. 1980 June; 17(6): 403-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7398111&dopt=Abstract

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Foveal hypoplasia in complete oculocutaneous albinism. A histopathologic study. Author(s): Mietz H, Green WR, Wolff SM, Abundo GP. Source: Retina (Philadelphia, Pa.). 1992; 12(3): 254-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1410836&dopt=Abstract

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Foveal hypoplasia in oculocutaneous albinism demonstrated by optical coherence tomography. Author(s): Meyer CH, Lapolice DJ, Freedman SF. Source: American Journal of Ophthalmology. 2002 March; 133(3): 409-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11860983&dopt=Abstract

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Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2). Author(s): Spritz RA, Fukai K, Holmes SA, Luande J. Source: American Journal of Human Genetics. 1995 June; 56(6): 1320-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7762554&dopt=Abstract

44 Albinism

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Fundal findings in a female carrier of X-linked ocular albinism. Author(s): Mansour AM, Greenwald MJ, Jampol LM, Hrisomalos N. Source: Archives of Ophthalmology. 1987 June; 105(6): 750-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3579700&dopt=Abstract

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Genetic and biochemical evidence for two forms of oculocutaneous albinism in man. Author(s): Nance WE, Witkop CJ, Rawls RF. Source: Birth Defects Orig Artic Ser. 1971 March; 7(3): 125-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5173133&dopt=Abstract

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Genetic counselling in X-linked ocular albinism: clinical features of the carrier state. Author(s): Charles SJ, Moore AT, Grant JW, Yates JR. Source: Eye (London, England). 1992; 6 ( Pt 1): 75-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1426406&dopt=Abstract

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Genetic defects and clinical characteristics of patients with a form of oculocutaneous albinism (Hermansky-Pudlak syndrome). Author(s): Gahl WA, Brantly M, Kaiser-Kupfer MI, Iwata F, Hazelwood S, Shotelersuk V, Duffy LF, Kuehl EM, Troendle J, Bernardini I. Source: The New England Journal of Medicine. 1998 April 30; 338(18): 1258-64. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9562579&dopt=Abstract

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Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. Author(s): Zhang Y, McMahon R, Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Source: Journal of Medical Genetics. 1993 November; 30(11): 923-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8301646&dopt=Abstract

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Genetic mapping of X linked ocular albinism: linkage analysis in British families. Author(s): Charles SJ, Moore AT, Yates JR. Source: Journal of Medical Genetics. 1992 August; 29(8): 552-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1355560&dopt=Abstract

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Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I. Author(s): Shiloh Y, Litvak G, Ziv Y, Lehner T, Sandkuyl L, Hildesheimer M, Buchris V, Cremers FP, Szabo P, White BN, et al. Source: American Journal of Human Genetics. 1990 July; 47(1): 20-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2349949&dopt=Abstract

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Genetic mapping of X-linked ocular albinism: linkage analysis in a large Newfoundland kindred. Author(s): Charles SJ, Green JS, Moore AT, Barton DE, Yates JR. Source: Genomics. 1993 April; 16(1): 259-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8486368&dopt=Abstract

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Genetic studies of ocular albinism in a large Virginia kindred. Author(s): Szymanski KA, Boughman JA, Nance WE, Olansky DC, Weinberg RS. Source: Ann Ophthalmol. 1984 February; 16(2): 183-5, 188-91, 194-6 Passim. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6703591&dopt=Abstract

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Grating acuity in albinism in the first three years of life. Author(s): Whang SJ, King RA, Summers CG. Source: J Aapos. 2002 December; 6(6): 393-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12506283&dopt=Abstract

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Hairbulb tyrosinase activity in oculocutaneous albinism. Author(s): King RA, Witkop CJ Jr. Source: Nature. 1976 September 2; 263(5572): 69-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=822352&dopt=Abstract

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Hairbulb tyrosinase activity in oculocutaneous albinism: suggestions for pathway control and block location. Author(s): King RA, Olds DP. Source: American Journal of Medical Genetics. 1985 January; 20(1): 49-55. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3918447&dopt=Abstract

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Health and education of children with albinism in Zimbabwe. Author(s): Lund PM. Source: Health Education Research. 2001 February; 16(1): 1-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11252280&dopt=Abstract

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Hearing impairment in female carriers of the sex-linked syndrome of deafness with albinism. Author(s): Fried K, Feinmesser M, Tsitsianov J. Source: Journal of Medical Genetics. 1969 June; 6(2): 132-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5801459&dopt=Abstract

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Hemolytic anemia, recurrent metabolic acidosis, and incomplete albinism associated with glutathione synthetase deficiency. Author(s): Prchal JT, Crist WM, Roper M, Wellner VP. Source: Blood. 1983 October; 62(4): 754-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6882923&dopt=Abstract

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Hereditary puzzles in albinism: heterogeneity or phenotypical variation? Author(s): Taylor WO. Source: Trans Ophthalmol Soc U K. 1983; 103 ( Pt 3): 318-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6585074&dopt=Abstract

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Hermansky-Pudlak syndrome: albinism with lipofuscin storage. Author(s): Fagadau WR, Heinemann MH, Cotlier E. Source: International Ophthalmology. 1981 August; 4(1-2): 113-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7298260&dopt=Abstract

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Heterogeneity in Waardenburg's syndrome. Report of a family with ocular albinism. Author(s): Bard LA. Source: Archives of Ophthalmology. 1978 July; 96(7): 1193-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=666627&dopt=Abstract

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Histology of fetal eyes with oculocutaneous albinism. Author(s): Akeo K, Shirai S, Okisaka S, Shimizu H, Miyata H, Kikuchi A, Nishikawa T, Suzumori K, Fujiwara T, Majima A. Source: Archives of Ophthalmology. 1996 May; 114(5): 613-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8619776&dopt=Abstract

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Histopathologic evaluation of melanocytic nervi in oculocutaneous albinism. Author(s): Perez MI, Sanchez JL. Source: The American Journal of Dermatopathology. 1985; 7 Suppl: 23-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2484848&dopt=Abstract

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Homozygous tyrosinase gene mutation in an American black with tyrosinasenegative (type IA) oculocutaneous albinism. Author(s): Spritz RA, Strunk KM, Hsieh CL, Sekhon GS, Francke U. Source: American Journal of Human Genetics. 1991 February; 48(2): 318-24. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1899321&dopt=Abstract

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Hopi Indians, “cultural” selection, and albinism. Author(s): Hedrick PW. Source: American Journal of Physical Anthropology. 2003 June; 121(2): 151-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12740958&dopt=Abstract

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Human albinism. Author(s): Jay B, Carruthers J, Treplin MC, Winder AF. Source: Birth Defects Orig Artic Ser. 1976; 12(3): 415-26. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=821563&dopt=Abstract

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Human albinism. Light and electron microscopy study. Author(s): Fulton AB, Albert DM, Craft JL. Source: Archives of Ophthalmology. 1978 February; 96(2): 305-10. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=629678&dopt=Abstract

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Human oculocutaneous albinism caused by single base insertion in the tyrosinase gene. Author(s): Tomita Y, Takeda A, Okinaga S, Tagami H, Shibahara S. Source: Biochemical and Biophysical Research Communications. 1989 November 15; 164(3): 990-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2511845&dopt=Abstract

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Hutchinson and Nettleship, Nettlerash and albinism. Author(s): Branford WA. Source: The British Journal of Dermatology. 2000 July; 143(1): 16-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10886129&dopt=Abstract

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Hypoplastic corpus callosum in ocular albinism: indication of a global disturbance of neuronal migration. Author(s): Bodensteiner JB, Breen L, Schwartz TL, Schaefer GB. Source: Journal of Child Neurology. 1990 October; 5(4): 341-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2246489&dopt=Abstract

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Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene. Author(s): Rosemblat S, Durham-Pierre D, Gardner JM, Nakatsu Y, Brilliant MH, Orlow SJ. Source: Proceedings of the National Academy of Sciences of the United States of America. 1994 December 6; 91(25): 12071-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7991586&dopt=Abstract

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Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa. Author(s): Kerr R, Stevens G, Manga P, Salm S, John P, Haw T, Ramsay M. Source: Human Mutation. 2000; 15(2): 166-72. Erratum In: Hum Mutat 2000; 16(1): Following 86. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10649493&dopt=Abstract

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In quest of the tyrosinase-positive oculocutaneous albinism gene. Author(s): Jenkins T, Heim RA, Dunn DS, Zwane E, Colman MA, Ramsay M, Kromberg JG. Source: Ophthalmic Paediatr Genet. 1990 December; 11(4): 251-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1982896&dopt=Abstract

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In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified. Author(s): Manga P, Kromberg J, Turner A, Jenkins T, Ramsay M. Source: American Journal of Human Genetics. 2001 March; 68(3): 782-7. Epub 2001 February 09. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11179026&dopt=Abstract

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Inborn errors of lipid metabolism coincidence of hyperlipoproteinaemia type 3 and albinism. Author(s): Sobra J, Jilek M. Source: Rev Czech Med. 1971; 17(4): 214-8. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5122078&dopt=Abstract

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Incidence of albinism in British Columbia (B.C.). Separation by hairbulb test. Author(s): McLeod R, Lowry RB. Source: Clinical Genetics. 1976 January; 9(1): 77-80. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1248166&dopt=Abstract

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Initiation codon mutation of the tyrosinase gene as a cause of human albinism. Author(s): Breimer LH, Winder AF, Jay B, Jay M. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1994 June; 227(1-2): 17-22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7955413&dopt=Abstract

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Insertion/deletion mutations of type I oculocutaneous albinism in chinese patients from Taiwan. Author(s): Tsai CH, Tsai FJ, Wu JY, Lin SP, Chang JG, Yang CF, Lee CC. Source: Human Mutation. 1999 December; 14(6): 542. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10571953&dopt=Abstract

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Intellectual and educational attainment in albinism. Author(s): Fulcher T, O'Keefe M, Bowell R, Lanigan B, Burke T, Carr A, O'Rourke M, Bolger M. Source: Journal of Pediatric Ophthalmology and Strabismus. 1995 November-December; 32(6): 368-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8587020&dopt=Abstract

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Intragenic TaqI restriction fragment length polymorphism (RFLP) in CICN4, between the loci for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects syndrome (MLS). Author(s): Schnur RE, Wick PA. Source: Human Genetics. 1995 May; 95(5): 594-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7759088&dopt=Abstract

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Investigation of a case of oculocutaneous albinism. Author(s): Jung EG, Anton-Lamprecht I. Source: Birth Defects Orig Artic Ser. 1971 June; 7(8): 26-30. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5006146&dopt=Abstract

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Iris pigment mosaicism in carriers of X-linked ocular albinism cum pigmento. Author(s): Maguire AM, Maumenee IH. Source: American Journal of Ophthalmology. 1989 March 15; 107(3): 298-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2923159&dopt=Abstract

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Isolation and characterization of a mouse homolog of the X-linked ocular albinism (OA1) gene. Author(s): Newton JM, Orlow SJ, Barsh GS. Source: Genomics. 1996 October 15; 37(2): 219-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8921399&dopt=Abstract

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Isolation and purification of ceruloplasmin in oculocutaneous albinism, Menkes' disease, Wilson's disease and pregnant women. Author(s): Mallet B, Aquaron R. Source: Clinica Chimica Acta; International Journal of Clinical Chemistry. 1983 August 31; 132(3): 245-56. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6616879&dopt=Abstract

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Lentigo maligna in a woman with oculocutaneous albinism. Author(s): Stoll DB, Ruschak P, Kauh Y, Martin J, Luscombe H. Source: Archives of Dermatology. 1981 June; 117(6): 360-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7247429&dopt=Abstract

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Letter: Autosomal dominant inheritance in albinism. Author(s): Maumenee IH. Source: American Journal of Ophthalmology. 1974 October; 78(4): 737-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4414127&dopt=Abstract

50 Albinism

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Letter: Browning of the lens in generalized albinism. Author(s): Wolbarsht ML, Yamanashi BS. Source: American Journal of Ophthalmology. 1974 November; 78(5): 874-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4419848&dopt=Abstract

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Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion. Author(s): Coupry I, Taine L, Goizet C, Soriano C, Mortemousque B, Arveiler B, Lacombe D. Source: Journal of Medical Genetics. 2001 January; 38(1): 35-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11134238&dopt=Abstract

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Linkage analysis in X-linked ocular albinism. Author(s): Schnur RE, Nussbaum RL, Anson-Cartwright L, McDowell C, Worton RG, Musarella MA. Source: Genomics. 1991 April; 9(4): 605-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1674724&dopt=Abstract

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Localization of the X-linked ocular albinism gene (OA1) between DXS278/DXS237 and DXS143/DXS16 by linkage analysis. Author(s): Bergen AA, Samanns C, Van Dorp DB, Ferguson-Smith MA, Gal A, BleekerWagemakers EM. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 165-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280973&dopt=Abstract

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Macromelanosomes in X-linked ocular albinism (XLOA). Author(s): Yoshiike T, Manabe M, Hayakawa M, Ogawa H. Source: Acta Dermato-Venereologica. 1985; 65(1): 66-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2578709&dopt=Abstract

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Macromelanosomes in X-linked ocular albinism. Author(s): Garner A, Jay BS. Source: Histopathology. 1980 May; 4(3): 243-54. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7390409&dopt=Abstract

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Malignant melanoma in a child with oculocutaneous albinism. Author(s): Levine EA, Ronan SG, Shirali SS, Das Gupta TK. Source: Journal of Surgical Oncology. 1992 October; 51(2): 138-42. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1405654&dopt=Abstract

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Malignant melanoma in a patient with oculocutaneous albinism. Author(s): Streutker CJ, McCready D, Jimbow K, From L. Source: Journal of Cutaneous Medicine and Surgery. 2000 July; 4(3): 149-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11003720&dopt=Abstract

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Malignant melanoma in oculocutaneous albinism. Author(s): Schulze KE, Rapini RP, Duvic M. Source: Archives of Dermatology. 1989 November; 125(11): 1583-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2684028&dopt=Abstract

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Malignant melanoma occurring in a case of oculocutaneous albinism. Author(s): Dargent JL, Lespagnard L, Heenen M, Verhest A. Source: Histopathology. 1992 July; 21(1): 74-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1634204&dopt=Abstract

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Malignant melanoma with oculocutaneous albinism. Author(s): Scott MJ Jr, Giacobetti R, Zugerman C. Source: Journal of the American Academy of Dermatology. 1982 November; 7(5): 684-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7142477&dopt=Abstract

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MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2). Author(s): King RA, Willaert RK, Schmidt RM, Pietsch J, Savage S, Brott MJ, Fryer JP, Summers CG, Oetting WS. Source: American Journal of Human Genetics. 2003 September; 73(3): 638-45. Epub 2003 July 22. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12876664&dopt=Abstract

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Measurable linkage between ocular albinism and Xg. Author(s): Fialkow PJ, Giblett ER, Motulsky AG. Source: American Journal of Human Genetics. 1967 January; 19(1): 63-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6019304&dopt=Abstract

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Mechanisms of hypopigmentation in human oculocutaneous albinism. Author(s): King RA, Olds DP, Townsend D. Source: Prog Clin Biol Res. 1988; 256: 183-91. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3285349&dopt=Abstract

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Metastatic melanoma of the nasal cavity in a patient with oculocutaneous albinism. Author(s): Malaguarnera M, Romano M, Pistone G. Source: Clin Oncol (R Coll Radiol). 1998; 10(6): 404-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9890545&dopt=Abstract

52 Albinism

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Might the refractive state in oculocutaneous albino patients be a clue for distinguishing between tyrosinase-positive and tyrosinase-negative forms of oculocutaneous albinism? Author(s): Kasmann B, Ruprecht KW. Source: Ger J Ophthalmol. 1996 November; 5(6): 422-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9479530&dopt=Abstract

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Minimal pigment: a new type of oculocutaneous albinism. Author(s): King RA, Wirtschafter JD, Olds DP, Brumbaugh J. Source: Clinical Genetics. 1986 January; 29(1): 42-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3081286&dopt=Abstract

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Molecular analysis of an extended family with type IA (tyrosinase-negative) oculocutaneous albinism. Author(s): Oetting WS, Handoko HY, Mentink MM, Paller AS, White JG, King RA. Source: The Journal of Investigative Dermatology. 1991 July; 97(1): 15-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1676041&dopt=Abstract

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Molecular analysis of the DNA segments cross-hybridizable to the tyrosinase gene in patients affected with oculocutaneous albinism. Author(s): Takeda A, Matsunaga J, Tomita Y, Tagami H, Shibahara S. Source: The Tohoku Journal of Experimental Medicine. 1989 December; 159(4): 333-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2517365&dopt=Abstract

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Molecular analysis of type I-A (tyrosinase negative) oculocutaneous albinism. Author(s): Oetting WS, King RA. Source: Human Genetics. 1992 November; 90(3): 258-62. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1487241&dopt=Abstract

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Molecular bases of congenital hypopigmentary disorders in humans and oculocutaneous albinism 1 in Japan. Author(s): Tomita Y, Miyamura Y, Kono M, Nakamura R, Matsunaga J. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2000; 13 Suppl 8: 130-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11041370&dopt=Abstract

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Molecular bases of tyrosinase-negative oculocutaneous albinism: a single base insertion or a missense point mutation in the tyrosinase gene. Author(s): Tomita Y, Takeda A, Matsunaga J, Okinaga S, Shibahara S, Tagami H. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1992; Suppl 2: 96-100. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1409445&dopt=Abstract

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Molecular basis of albinism in the rhesus monkey. Author(s): Ding B, Ryder OA, Wang X, Bai SC, Zhou SQ, Zhang Y. Source: Mutation Research. 2000 April 3; 449(1-2): 1-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10751629&dopt=Abstract

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Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism. Author(s): Oetting WS, King RA. Source: Human Mutation. 1999; 13(2): 99-115. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10094567&dopt=Abstract

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Molecular basis of dark-eyed albinism in the mouse. Author(s): Schmidt A, Beermann F. Source: Proceedings of the National Academy of Sciences of the United States of America. 1994 May 24; 91(11): 4756-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8197131&dopt=Abstract

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Molecular basis of oculocutaneous albinism. Author(s): Oetting WS, King RA. Source: The Journal of Investigative Dermatology. 1994 November; 103(5 Suppl): 131S136S. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7963676&dopt=Abstract

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Molecular basis of type I (tyrosinase-related) oculocutaneous albinism: mutations and polymorphisms of the human tyrosinase gene. Author(s): Oetting WS, King RA. Source: Human Mutation. 1993; 2(1): 1-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8477259&dopt=Abstract

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Molecular basis of type IA (tyrosinase negative) oculocutaneous albinism. Author(s): King RA, Oetting WS. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1992; Suppl 2: 249-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1409426&dopt=Abstract

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Molecular basis of tyrosinase-negative oculocutaneous albinism. A single base mutation in the tyrosinase gene causing arginine to glutamine substitution at position 59. Author(s): Takeda A, Tomita Y, Matsunaga J, Tagami H, Shibahara S. Source: The Journal of Biological Chemistry. 1990 October 15; 265(29): 17792-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2120217&dopt=Abstract

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Molecular genetics of oculocutaneous albinism. Author(s): Spritz RA. Source: Human Molecular Genetics. 1994; 3 Spec No: 1469-75. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7849740&dopt=Abstract

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Molecular genetics of oculocutaneous albinism. Author(s): Spritz RA. Source: Semin Dermatol. 1993 September; 12(3): 167-72. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8217557&dopt=Abstract

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Multiple congenital anomalies, brain hypomyelination, and ocular albinism in a female with dup(X) (pter-->q24::q21.32-->qter) and random X inactivation. Author(s): Carrozzo R, Arrigo G, Rossi E, Bardoni B, Cammarata M, Gandullia P, Gatti R, Zuffardi O. Source: American Journal of Medical Genetics. 1997 October 31; 72(3): 329-34. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9332664&dopt=Abstract

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Multiple naevocellular naevi in brothers with albinism. Author(s): Tsuji T, Saito T. Source: The British Journal of Dermatology. 1978 June; 98(6): 685-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=678455&dopt=Abstract

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Multipoint linkage analysis in X-linked ocular albinism of the Nettleship-Falls type. Author(s): Bergen AA, Samanns C, Schuurman EJ, van Osch L, van Dorp DB, Pinckers AJ, Bakker E, Gal A, van Ommen GJ, Bleeker-Wagemakers EM. Source: Human Genetics. 1991 December; 88(2): 162-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1684563&dopt=Abstract

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Muscle involvement in a case of oculocutaneous albinism. Author(s): Hamano K, Kawashima K, Joganoto M, Takita H, Nonaka I. Source: Neuropediatrics. 1986 February; 17(1): 53-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2938023&dopt=Abstract

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Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Author(s): Camand O, Marchant D, Boutboul S, Pequignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M. Source: Human Mutation. 2001 April; 17(4): 352. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11295837&dopt=Abstract

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Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as “OCA3”. Author(s): Boissy RE, Zhao H, Oetting WS, Austin LM, Wildenberg SC, Boissy YL, Zhao Y, Sturm RA, Hearing VJ, King RA, Nordlund JJ. Source: American Journal of Human Genetics. 1996 June; 58(6): 1145-56. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8651291&dopt=Abstract

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Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome). Author(s): Amiel J, Watkin PM, Tassabehji M, Read AP, Winter RM. Source: Clinical Dysmorphology. 1998 January; 7(1): 17-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9546825&dopt=Abstract

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Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Author(s): Newton JM, Cohen-Barak O, Hagiwara N, Gardner JM, Davisson MT, King RA, Brilliant MH. Source: American Journal of Human Genetics. 2001 November; 69(5): 981-8. Epub 2001 September 26. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11574907&dopt=Abstract

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Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online. Author(s): Oetting WS, Gardner JM, Fryer JP, Ching A, Durham-Pierre D, King RA, Brilliant MH. Source: Human Mutation. 1998; 12(6): 434. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10671067&dopt=Abstract

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Mutations of the human tyrosinase gene associated with tyrosinase related oculocutaneous albinism (OCA1). Mutations in brief no. 204. Online. Author(s): Oetting WS, Fryer JP, King RA. Source: Human Mutation. 1998; 12(6): 433-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10671066&dopt=Abstract

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Mutations of the P gene in oculocutaneous albinism, ocular albinism, and PraderWilli syndrome plus albinism. Author(s): Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Source: The New England Journal of Medicine. 1994 February 24; 330(8): 529-34. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8302318&dopt=Abstract

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Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinasedeficient) oculocutaneous albinism (OCA). Author(s): Tripathi RK, Bundey S, Musarella MA, Droetto S, Strunk KM, Holmes SA, Spritz RA. Source: American Journal of Human Genetics. 1993 December; 53(6): 1173-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7902671&dopt=Abstract

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Mutations of the tyrosinase gene in oculocutaneous albinism. Author(s): Shibahara S. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1992 November; 5(5 Pt 2): 279-83. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1292010&dopt=Abstract

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Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Author(s): Gershoni-Baruch R, Rosenmann A, Droetto S, Holmes S, Tripathi RK, Spritz RA. Source: American Journal of Human Genetics. 1994 April; 54(4): 586-94. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8128955&dopt=Abstract

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Mutations of the tyrosinase gene in three Korean patients with type I oculocutaneous albinism. Author(s): Park KC, Park SK, Lee YS, Youn SW, Park BS, Kim KH, Lee ST. Source: Jpn J Hum Genet. 1996 September; 41(3): 299-305. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8996965&dopt=Abstract

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Nettleship-Falls X-linked ocular albinism with Axenfeld's anomaly. A case report. Author(s): Hayakawa M, Kato K, Nakajima A, Yoshiike T, Ogawa H. Source: Ophthalmic Paediatr Genet. 1986 August; 7(2): 109-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3785879&dopt=Abstract

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New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. Author(s): Oetting WS. Source: Human Mutation. 2002 February; 19(2): 85-92. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11793467&dopt=Abstract

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Noah or the legend of albinism. Author(s): Forrai G. Source: Ther Hung. 1980; 28(2): 87-9. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7008241&dopt=Abstract

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Non-bullous congenital ichthyosiform erythroderma, with ocular albinism and Noonan syndrome. Author(s): Hill V, Griffiths W, Kerr-Muir M, Hardman-Lea S. Source: Clinical and Experimental Dermatology. 2000 November; 25(8): 611-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11167973&dopt=Abstract

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Non-random distribution of missense mutations within the human tyrosinase gene in type I (tyrosinase-related) oculocutaneous albinism. Author(s): King RA, Mentink MM, Oetting WS. Source: Mol Biol Med. 1991 February; 8(1): 19-29. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1943686&dopt=Abstract

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Novel mutations of the P gene in type II oculocutaneous albinism (OCA2). Author(s): Spritz RA, Lee ST, Fukai K, Brondum-Nielsen K, Chitayat D, Lipson MH, Musarella MA, Rosenmann A, Weleber RG. Source: Human Mutation. 1997; 10(2): 175-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9259203&dopt=Abstract

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Novel mutations of the tyrosinase (TYR) gene in type I oculocutaneous albinism (OCA1). Author(s): Spritz RA, Oh J, Fukai K, Holmes SA, Ho L, Chitayat D, France TD, Musarella MA, Orlow SJ, Schnur RE, Weleber RG, Levin AV. Source: Human Mutation. 1997; 10(2): 171-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9259202&dopt=Abstract

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Nystagmus in a female carrier of ocular albinism. Author(s): Pearce WG, Johnson GJ, Gillan JG. Source: Journal of Medical Genetics. 1972 March; 9(1): 126-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5025477&dopt=Abstract

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Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Author(s): Incerti B, Cortese K, Pizzigoni A, Surace EM, Varani S, Coppola M, Jeffery G, Seeliger M, Jaissle G, Bennett DC, Marigo V, Schiaffino MV, Tacchetti C, Ballabio A. Source: Human Molecular Genetics. 2000 November 22; 9(19): 2781-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11092754&dopt=Abstract

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OA1 mutations and deletions in X-linked ocular albinism. Author(s): Schnur RE, Gao M, Wick PA, Keller M, Benke PJ, Edwards MJ, Grix AW, Hockey A, Jung JH, Kidd KK, Kistenmacher M, Levin AV, Lewis RA, Musarella MA, Nowakowski RW, Orlow SJ, Pagon RS, Pillers DA, Punnett HH, Quinn GE, Tezcan K, Wagstaff J, Weleber RG. Source: American Journal of Human Genetics. 1998 April; 62(4): 800-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9529334&dopt=Abstract

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Ocular albinism and Xg. Author(s): Pearce WG, Johnson GJ, Sanger R. Source: Lancet. 1971 May 22; 1(7708): 1072. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4102999&dopt=Abstract

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Ocular albinism and Xg. Author(s): Hoefnagel D, Allen FH Jr, Walker M. Source: Lancet. 1969 June 28; 1(7609): 1314. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4182201&dopt=Abstract

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Ocular albinism and Xg. Author(s): Pearce WG, Sanger R, Race RR. Source: Lancet. 1968 June 15; 1(7555): 1282-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4172140&dopt=Abstract

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Ocular albinism in a female. Author(s): Scialfa AC. Source: American Journal of Ophthalmology. 1972 June; 73(6): 943-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5032699&dopt=Abstract

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Ocular albinism in a male with del (6)(q13-q15): candidate region for autosomal recessive ocular albinism? Author(s): Rose NC, Menacker SJ, Schnur RE, Jackson L, McDonald-McGinn DM, Stump T, Emanuel BS, Zackai EH. Source: American Journal of Medical Genetics. 1992 March 1; 42(5): 700-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1632442&dopt=Abstract

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Ocular albinism in Newfoundland. Author(s): Johnson GJ, Gillan JG, Pearce WG. Source: Can J Ophthalmol. 1971 October; 6(4): 237-48. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5125647&dopt=Abstract

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Ocular albinism type 1: more than meets the eye. Author(s): Shen B, Samaraweera P, Rosenberg B, Orlow SJ. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2001 August; 14(4): 243-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11549106&dopt=Abstract

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Ocular albinism with unilateral sectorial pigmentation in the fundus. Author(s): Shiono T, Mutoh T, Chida Y, Tamai M. Source: The British Journal of Ophthalmology. 1994 May; 78(5): 412-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8025080&dopt=Abstract

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Ocular albinism. Author(s): Lewen RM. Source: Archives of Ophthalmology. 1988 January; 106(1): 120-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3337686&dopt=Abstract

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Ocular albinism. Incidence and occupational prognosis. Author(s): Norn MS. Source: Acta Ophthalmol (Copenh). 1966; 44(1): 20-4. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5952954&dopt=Abstract

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Ocular albinism: evidence for a defect in an intracellular signal transduction system. Author(s): Schiaffino MV, d'Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, Puri C, Bassi MT, Colla C, De Luca M, Tacchetti C, Ballabio A. Source: Nature Genetics. 1999 September; 23(1): 108-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10471510&dopt=Abstract

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Ocular motor behaviour of monozygotic twins with tyrosinase negative oculocutaneous albinism. Author(s): Abadi RV, Pascal E. Source: The British Journal of Ophthalmology. 1994 May; 78(5): 349-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8025067&dopt=Abstract

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Oculocutaneous albinism (OCA2) in sub-Saharan Africa: distribution of the common 2.7-kb P gene deletion mutation. Author(s): Stevens G, Ramsay M, Jenkins T. Source: Human Genetics. 1997 April; 99(4): 523-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9099845&dopt=Abstract

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Oculocutaneous albinism among schoolchildren in Harare, Zimbabwe. Author(s): Kagore F, Lund PM. Source: Journal of Medical Genetics. 1995 November; 32(11): 859-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8592327&dopt=Abstract

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Oculocutaneous albinism and analysis of tyrosinase gene in Japanese patients. Author(s): Tomita Y, Miyamura Y. Source: Nagoya J Med Sci. 1998 October; 61(3-4): 97-102. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9879192&dopt=Abstract

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Oculocutaneous albinism and anterior chambre cleavage malformations. Not a coincidence. Author(s): van Dorp DB, Delleman JW, Loewer-Sieger DH. Source: Clinical Genetics. 1984 November; 26(5): 440-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6499256&dopt=Abstract

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Oculocutaneous albinism and bruising in two sisters--probable Hermansky-Pudlak syndrome. Author(s): Ellis JP, Gray A, Richards F. Source: Journal of the Royal Society of Medicine. 1995 May; 88(5): 293P-294P. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7636828&dopt=Abstract

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Oculocutaneous albinism and corneal mesodermal dysgenesis. Author(s): Ricci B, Lacerra F. Source: American Journal of Ophthalmology. 1981 October; 92(4): 587. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7294125&dopt=Abstract

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Oculocutaneous albinism and mental disorder. A report of two autistic boys. Author(s): Rogawski MA, Funderburk SJ, Cederbaum SD. Source: Human Heredity. 1978; 28(2): 81-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=413782&dopt=Abstract

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Oculocutaneous albinism and multiple pigmented naevi. Author(s): Roller JA, Hahn M. Source: The British Journal of Dermatology. 1977 December; 97(6): 698. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=414774&dopt=Abstract

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Oculocutaneous albinism and reduced bone density in two sibs: a new autosomal recessive syndrome? Author(s): Gul D, Odabas E, Kutlu M. Source: Clinical Dysmorphology. 2000 October; 9(4): 295-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11045591&dopt=Abstract

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Oculocutaneous albinism and schizophrenia. Author(s): Pollack MH, Manschreck TC. Source: Biological Psychiatry. 1986 July; 21(8-9): 830-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3730462&dopt=Abstract

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Oculocutaneous albinism and schizophrenia-like psychosis. Author(s): Jurius G, Moh P, Levy AB. Source: The Journal of Nervous and Mental Disease. 1989 February; 177(2): 112. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2915216&dopt=Abstract

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Oculocutaneous albinism associated with Apert's syndrome. Author(s): Margolis S, Siegel IM, Choy A, Breinin GM. Source: American Journal of Ophthalmology. 1977 December; 84(6): 830-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=596398&dopt=Abstract

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Oculocutaneous albinism associated with congenital glaucoma. Author(s): Catalano RA, Nelson LB, Schaffer DB. Source: Ophthalmic Paediatr Genet. 1988 March; 9(1): 5-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3405593&dopt=Abstract

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Oculocutaneous albinism associated with corneal mesodermal dysgenesis. Author(s): Lubin JR. Source: American Journal of Ophthalmology. 1981 March; 91(3): 347-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7211991&dopt=Abstract

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Oculocutaneous albinism associated with motor neuron disease. Author(s): Hamel BC, Sengers RC, Stadhouders AM, Jaspar HH, Ter Laak HJ, Trijbels JM, Gabreels-Festen AW. Source: Helv Paediatr Acta. 1978 February; 32(6): 487-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=632111&dopt=Abstract

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Oculocutaneous albinism in an isolated Tonga community in Zimbabwe. Author(s): Lund PM, Puri N, Durham-Pierre D, King RA, Brilliant MH. Source: Journal of Medical Genetics. 1997 September; 34(9): 733-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9321758&dopt=Abstract

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Oculocutaneous albinism in Cameroon. A 15-year follow-up study. Author(s): Aquaron R. Source: Ophthalmic Paediatr Genet. 1990 December; 11(4): 255-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2096353&dopt=Abstract

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Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome. Author(s): Saitoh S, Oiso N, Wada T, Narazaki O, Fukai K. Source: Journal of Medical Genetics. 2000 May; 37(5): 392-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10905897&dopt=Abstract

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Oculocutaneous albinism with Axenfeld's anomaly. Author(s): Benson W. Source: American Journal of Ophthalmology. 1981 July; 92(1): 133-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6789680&dopt=Abstract

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Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: a new autosomal recessive syndrome? Author(s): Kotzot D, Richter K, Gierth-Fiebig K. Source: American Journal of Medical Genetics. 1994 April 15; 50(3): 224-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8042664&dopt=Abstract

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Oculocutaneous albinism, platelet storage pool disease, and progressive lupus nephritis. Author(s): Bomalaski JS, Green D, Carone F. Source: Archives of Internal Medicine. 1983 April; 143(4): 809-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6340629&dopt=Abstract

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Oculocutaneous albinism. Author(s): Okulicz JF, Shah RS, Schwartz RA, Janniger CK. Source: Journal of the European Academy of Dermatology and Venereology : Jeadv. 2003 May; 17(3): 251-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12702061&dopt=Abstract

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Oculocutaneous albinism. Author(s): Biswas S, Lloyd IC. Source: Archives of Disease in Childhood. 1999 June; 80(6): 565-9. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10332009&dopt=Abstract

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Oculocutaneous albinism. Author(s): Sethi R, Schwartz RA, Janniger CK. Source: Cutis; Cutaneous Medicine for the Practitioner. 1996 June; 57(6): 397-401. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8804841&dopt=Abstract

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Oculocutaneous albinism: variable expressivity of nystagmus in a sibship. Author(s): Cheong PY, King RA, Bateman JB. Source: Journal of Pediatric Ophthalmology and Strabismus. 1992 May-June; 29(3): 1858. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1432506&dopt=Abstract

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Ophthalmic features of minimal pigment oculocutaneous albinism. Author(s): Summers CG, King RA. Source: Ophthalmology. 1994 May; 101(5): 906-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8190479&dopt=Abstract

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Ophthalmic manifestations of the Hermansky-Pudlak syndrome (oculocutaneous albinism and hemorrhagic diathesis). Author(s): Simon JW, Adams RJ, Calhoun JH, Shapiro SS, Ingerman CM. Source: American Journal of Ophthalmology. 1982 January; 93(1): 71-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7065089&dopt=Abstract

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Ophthalmologic, biochemical, platelet, and ultrastructural defects in the various types of oculocutaneous albinism. Author(s): Witkop CJ Jr, Hill CW, Desnick S, Thies JK, Thorn HL, Jenkins M, White JG. Source: The Journal of Investigative Dermatology. 1973 June; 60(6): 443-56. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4351103&dopt=Abstract

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Optic and otic neurologic abnormalities in oculocutaneous and ocular albinism. Author(s): Witkop CJ Jr, Jay B, Creel D, Guillery RW. Source: Birth Defects Orig Artic Ser. 1982; 18(6): 299-318. Review. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6756499&dopt=Abstract

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Oxidation of dopa in human albinism. Author(s): Carstam R, Hansson C, Krook G, Rorsman H, Rosengren E, Wirestrand LE. Source: Acta Dermato-Venereologica. 1985; 65(5): 435-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2416170&dopt=Abstract

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Partial albinism and immunodeficiency: ultrastructural study of haemophagocytosis and bone marrow erythroblasts in one case. Author(s): Brambilla E, Dechelette E, Stoebner P. Source: Pathology, Research and Practice. 1980 May; 167(1): 151-65. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7454599&dopt=Abstract

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Partial albinism with immunodeficiency (Griscelli syndrome). Author(s): Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C. Source: The Journal of Pediatrics. 1994 December; 125(6 Pt 1): 886-95. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7996360&dopt=Abstract

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Partial albinism with immunodeficiency: a rare syndrome with prominent posterior fossa white matter changes. Author(s): Brismar J, Harfi HA. Source: Ajnr. American Journal of Neuroradiology. 1992 January-February; 13(1): 387-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1595481&dopt=Abstract

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Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature. Author(s): Mancini AJ, Chan LS, Paller AS. Source: Journal of the American Academy of Dermatology. 1998 February; 38(2 Pt 2): 295-300. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9486701&dopt=Abstract

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Partial albinism, immunodeficiency, and progressive white matter disease: a new primary immunodeficiency. Author(s): Harfi HA, Brismar J, Hainau B, Sabbah R. Source: Allergy Proc. 1992 November-December; 13(6): 321-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1490625&dopt=Abstract

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Partial albinism. Author(s): Comings DE, Odland GF. Source: Jama : the Journal of the American Medical Association. 1966 February 14; 195(7): 519-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5951847&dopt=Abstract

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Pattern evoked potentials in human albinism. Evidence of two different topographical asymmetries reflecting abnormal retino-cortical projections. Author(s): Carroll WM, Jay BS, McDonald WI, Halliday AM. Source: Journal of the Neurological Sciences. 1980 November; 48(2): 265-86. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7431042&dopt=Abstract

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Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene. Author(s): Tijmes NT, Bergen AB, De Jong PT. Source: The British Journal of Ophthalmology. 1998 April; 82(4): 457-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9640203&dopt=Abstract

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Periodic alternating nystagmus associated with albinism. Author(s): Guyer DR, Lessell S. Source: J Clin Neuroophthalmol. 1986 June; 6(2): 82-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2942574&dopt=Abstract

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Periodic alternating nystagmus in humans with albinism. Author(s): Abadi RV, Pascal E. Source: Investigative Ophthalmology & Visual Science. 1994 November; 35(12): 4080-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7960590&dopt=Abstract

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Phenotypic variability in X-linked ocular albinism: relationship to linkage genotypes. Author(s): Schnur RE, Wick PA, Bailey C, Rebbeck T, Weleber RG, Wagstaff J, Grix AW, Pagon RA, Hockey A, Edwards MJ. Source: American Journal of Human Genetics. 1994 September; 55(3): 484-96. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7915878&dopt=Abstract

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Plasma 5-S-cysteinyldopa concentrations in oculocutaneous albinism. Author(s): Nimmo JE, Hunter JA, Percy-Robb IW, Jay B, Phillips CI, Taylor WO. Source: Acta Dermato-Venereologica. 1985; 65(2): 169-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2408424&dopt=Abstract

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Poikilochromia alba (Albinismus circumscriptus). Author(s): van Velde JL. Source: Dermatologica. 1972; 145(1): 9-15. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4658663&dopt=Abstract

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Poor stereopsis can support size constancy in albinism. Author(s): Cobo-Lewis AB, Siatkowski RM, Lavina AM, Marquez LC. Source: Investigative Ophthalmology & Visual Science. 1997 December; 38(13): 2800-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9418733&dopt=Abstract

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Positron emission tomography and 18F-fluorodeoxyglucose for the detection of visual pathway abnormalities in albinism. Author(s): Nakagawa Y, Kiyosawa M, Tamai M, Ito M. Source: American Journal of Ophthalmology. 1993 July 15; 116(1): 112-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8328535&dopt=Abstract

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Posterior chamber intraocular lens implantation in a patient with oculocutaneous albinism. Author(s): Hayasaka S, Noda S, Setogawa T. Source: Journal of Cataract and Refractive Surgery. 1992 September; 18(5): 527-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1403762&dopt=Abstract

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Prenatal diagnosis in albinism. Author(s): Taylor WO. Source: Lancet. 1987 June 6; 1(8545): 1307-8. Erratum In: Lancet 1987 August 15; 2(8555): 410. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2884422&dopt=Abstract

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Prenatal diagnosis of oculocutaneous albinism by analysis of the fetal tyrosinase gene. Author(s): Shimizu H, Niizeki H, Suzumori K, Aozaki R, Kawaguchi R, Hikiji K, Nishikawa T. Source: The Journal of Investigative Dermatology. 1994 July; 103(1): 104-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8027570&dopt=Abstract

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Prenatal diagnosis of oculocutaneous albinism by electron microscopy of fetal skin. Author(s): Eady RA, Gunner DB, Garner A, Rodeck CH. Source: The Journal of Investigative Dermatology. 1983 March; 80(3): 210-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6827132&dopt=Abstract

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Prenatal diagnosis of oculocutaneous albinism two mutations located at the same allele. Author(s): Hsieh YY, Wu JY, Chang CC, Tsai FJ, Lee CC, Tsai HD, Tsai CH. Source: Prenatal Diagnosis. 2001 March; 21(3): 200-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11260608&dopt=Abstract

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Prenatal diagnosis of oculocutaneous albinism type I: review and personal experience. Author(s): Rosenmann E, Rosenmann A, Ne'eman Z, Lewin A, Bejarano-Achache I, Blumenfeld A. Source: Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society. 1999 September-October; 2(5): 404-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10441617&dopt=Abstract

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Prenatal diagnosis of syndromes associating albinism and immune deficiencies (Chediak-Higashi syndrome and variant). Author(s): Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C. Source: Prenatal Diagnosis. 1993 January; 13(1): 13-20. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8446567&dopt=Abstract

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Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism by an electron microscopic dopa reaction test of fetal skin. Author(s): Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Source: Prenatal Diagnosis. 1994 June; 14(6): 442-50. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7937580&dopt=Abstract

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Prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Author(s): Shimizu H, Ishiko A, Kikuchi A, Akiyama M, Suzumori K, Nishikawa T. Source: Lancet. 1992 September 19; 340(8821): 739-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1355848&dopt=Abstract

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Prevalence of albinism in the South African negro. Author(s): Kromberg JG, Jenkins T. Source: South African Medical Journal. Suid-Afrikaanse Tydskrif Vir Geneeskunde. 1982 March 13; 61(11): 383-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7064008&dopt=Abstract

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Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Author(s): Park SK, Lee KH, Park KC, Lee JS, Spritz RA, Lee ST. Source: Molecules and Cells. 1997 April 30; 7(2): 187-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9163730&dopt=Abstract

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Problems of ocular miswiring in albinism, Duane's syndrome, and Marcus Gunn phenomenon. Author(s): Creel D. Source: International Ophthalmology Clinics. 1984 Spring; 24(1): 165-76. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6544763&dopt=Abstract

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Proceedings: Study of albinism in relation to Hermansky-Pudlak syndrome. Author(s): Hermansky F, Cieslar P, Matousova O, Smetana K. Source: Thromb Diath Haemorrh. 1975 September 30; 34(1): 360. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1188819&dopt=Abstract

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Psychological aspects of albinism: an exploratory study with Nigerian (Igbo) albino subjects. Author(s): Ezeilo BN. Source: Social Science & Medicine (1982). 1989; 29(9): 1129-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2814596&dopt=Abstract

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Quantification of iris translucency in albinism. Author(s): Wirtschafter JD, Denslow GT, Shine IB. Source: Archives of Ophthalmology. 1973 October; 90(4): 274-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4746640&dopt=Abstract

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R278TER and P431L mutations of the tyrosinase gene exist in Japanese patients with tyrosinase-negative oculocutaneous albinism. Author(s): Matsunaga J, Dakeishi M, Shimizu H, Tomita Y. Source: Journal of Dermatological Science. 1996 November; 13(2): 134-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8953413&dopt=Abstract

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Recent experiences in the management of visual impairment in albinism. Author(s): Collins B, Silver J. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 225-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280981&dopt=Abstract

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Recessive albinism in three children and both parents. Author(s): Oliver M, Fried K. Source: Journal of Medical Genetics. 1970 June; 7(2): 153-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4933409&dopt=Abstract

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Refinement of the localization of the X-linked ocular albinism gene. Author(s): Bergen AA, Zijp P, Schuurman EJ, Bleeker-Wagemakers EM, Apkarian P, van Ommen GJ. Source: Genomics. 1993 April; 16(1): 272-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8486373&dopt=Abstract

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Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor. Author(s): Burns WN, Schiaffino MV, Lewis RA. Source: Fertility and Sterility. 1998 December; 70(6): 1169-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9848314&dopt=Abstract

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Retinal vascular and optic nerve abnormalities in albinism. Author(s): Spedick MJ, Beauchamp GR. Source: Journal of Pediatric Ophthalmology and Strabismus. 1986 March-April; 23(2): 58-63. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3958871&dopt=Abstract

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Rufous albinism. Author(s): Mehta JS, Good P, Maharaj D, Butler L, Bundey S, O'Shea J. Source: Journal of Pediatric Ophthalmology and Strabismus. 2001 March-April; 38(2): 117-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11310706&dopt=Abstract

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Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene. Author(s): Manga P, Kromberg JG, Box NF, Sturm RA, Jenkins T, Ramsay M. Source: American Journal of Human Genetics. 1997 November; 61(5): 1095-101. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9345097&dopt=Abstract

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Schizophrenia and albinism. Author(s): Leibowitz MR, Dogliotti M, Hart G. Source: Dermatologica. 1978; 156(6): 367-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=658577&dopt=Abstract

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Segregation analysis of brown oculocutaneous albinism. Author(s): King RA, Rich SS. Source: Clinical Genetics. 1986 June; 29(6): 496-501. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3742854&dopt=Abstract

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Sequence analysis of the human tyrosinase promoter from a patient with tyrosinasenegative oculocutaneous albinism. Author(s): Matsunaga J, Dakeishi M, Miyamura Y, Tomita Y. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1997 February-April; 10(1-2): 64-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9170165&dopt=Abstract

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Sequence-based diagnosis of tyrosinase-related oculocutaneous albinism: successful sequence analysis of the tyrosinase gene from blood spots dried on filter paper. Author(s): Matsunaga J, Dakeishi-Hara M, Miyamura Y, Nakamura E, Tanita M, Satomura K, Tomita Y. Source: Dermatology (Basel, Switzerland). 1998; 196(2): 189-93. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9568405&dopt=Abstract

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Sex-linked albinism associated with deafness. Author(s): Margolis E. Source: Ala J Med Sci. 1966 October; 3(4): 479-82. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5978184&dopt=Abstract

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Single-strand conformation polymorphism analysis of point mutation in a tyrosinasenegative oculocutaneous albinism. Author(s): Park KC, Kim KH, Lee YS, Kwon BS. Source: Journal of Inherited Metabolic Disease. 1994; 17(1): 123-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8051921&dopt=Abstract

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Sister and brother with Vici syndrome: agenesis of the corpus callosum, albinism, and recurrent infections. Author(s): Chiyonobu T, Yoshihara T, Fukushima Y, Yamamoto Y, Tsunamoto K, Nishimura Y, Ishida H, Toda T, Kasubuchi Y. Source: American Journal of Medical Genetics. 2002 April 15; 109(1): 61-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11932994&dopt=Abstract

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Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients. Author(s): Suzuki T, Miyamura Y, Matsunaga J, Shimizu H, Kawachi Y, Ohyama N, Ishikawa O, Ishikawa T, Terao H, Tomita Y. Source: The Journal of Investigative Dermatology. 2003 May; 120(5): 781-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12713581&dopt=Abstract

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Small-bowel stricture in a woman with oculocutaneous albinism (Hermansky-Pudlak syndrome). Author(s): Goswami GK, Sadler MA, Siegel S. Source: Ajr. American Journal of Roentgenology. 2000 April; 174(4): 1163-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10749270&dopt=Abstract

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Stereopsis in patients with albinism: clinical correlates. Author(s): Lee KA, King RA, Summers CG. Source: J Aapos. 2001 April; 5(2): 98-104. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11304818&dopt=Abstract

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Studies of platelet 5-hydroxytryptamine (serotonin) in storage pool disease and albinism. Author(s): Weiss HJ, Tschopp TB, Rogers J, Brand H. Source: The Journal of Clinical Investigation. 1974 August; 54(2): 421-33. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4847252&dopt=Abstract

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Studies on albinism in the South African Negro. I. Intellectual maturity and body image differentiation. Author(s): Manganyl NC, Kromberg JG, Jenkins T. Source: Journal of Biosocial Science. 1974; 6(1): 107-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4828335&dopt=Abstract

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Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children. Author(s): Sjostrom A, Kraemer M, Ohlsson J, Villarreal G. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 2001 November; 103(3): 35-46. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11824661&dopt=Abstract

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Subnormal visual acuity syndromes (SVAS): albinism in Swedish 12-13-year-old children. Author(s): Sjostrom A, Kraemer M, Ohlsson J, Villarreal G. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 2001 July; 103(1): 35-46. Corrected and Republished In: http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11678159&dopt=Abstract

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Synchrony of oculocutaneous albinism, the Prader-Willi syndrome, and a normal karyotype. Author(s): Wallis CE, Beighton PH. Source: Journal of Medical Genetics. 1989 May; 26(5): 337-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2732995&dopt=Abstract

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Technical advances in prenatal diagnosis of tyrosinase-negative oculocutaneous albinism. Author(s): Shimizu H. Source: Acta Dermato-Venereologica. 1997 January; 77(1): 10-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9059668&dopt=Abstract

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Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. Author(s): King RA, Townsend D, Oetting W, Summers CG, Olds DP, White JG, Spritz RA. Source: The Journal of Clinical Investigation. 1991 March; 87(3): 1046-53. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1900307&dopt=Abstract

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The clinical features of albinism and their correlation with visual evoked potentials. Author(s): Dorey SE, Neveu MM, Burton LC, Sloper JJ, Holder GE. Source: The British Journal of Ophthalmology. 2003 June; 87(6): 767-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12770978&dopt=Abstract

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The clinical spectrum of albinism in humans. Author(s): Oetting WS, Brilliant MH, King RA. Source: Molecular Medicine Today. 1996 August; 2(8): 330-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8796918&dopt=Abstract

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The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Author(s): Toyofuku K, Valencia JC, Kushimoto T, Costin GE, Virador VM, Vieira WD, Ferrans VJ, Hearing VJ. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2002 June; 15(3): 217-24. Erratum In: Pigment Cell Res. 2002 October; 15(5): 400. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12028586&dopt=Abstract

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The familial association of neurofibromatosis, peroneal muscular atrophy, congenital deafness, partial albinism, and Axenfeld's defect. Author(s): Bradley WG, Richardson J, Frew IJ. Source: Brain; a Journal of Neurology. 1974 September; 97(3): 521-32. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4213898&dopt=Abstract

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The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Author(s): Wapenaar MC, Bassi MT, Schaefer L, Grillo A, Ferrero GB, Chinault AC, Ballabio A, Zoghbi HY. Source: Human Molecular Genetics. 1993 July; 2(7): 947-52. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8364577&dopt=Abstract

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The insecticidal activity of Cyanobacteria against four insects, two of medical importance and two agricultural pests with reference to the action on albino mice. Author(s): Nassar MM, Hafez ST, Nagaty IM, Khalaf SA. Source: J Egypt Soc Parasitol. 1999; 29(3): 939-49. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12561932&dopt=Abstract

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The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Author(s): Toyofuku K, Wada I, Spritz RA, Hearing VJ. Source: The Biochemical Journal. 2001 April 15; 355(Pt 2): 259-69. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11284711&dopt=Abstract

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The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. Author(s): Giebel LB, Spritz RA. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1992; Suppl 2: 101-6. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1409411&dopt=Abstract

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The molecular genetics of albinism and piebaldism. Author(s): Tomita Y. Source: Archives of Dermatology. 1994 March; 130(3): 355-8. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8129415&dopt=Abstract

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The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Author(s): Brilliant MH. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2001 April; 14(2): 86-93. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11310796&dopt=Abstract

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The ocular albinism type 1 gene product is a membrane glycoprotein localized to melanosomes. Author(s): Schiaffino MV, Baschirotto C, Pellegrini G, Montalti S, Tacchetti C, De Luca M, Ballabio A. Source: Proceedings of the National Academy of Sciences of the United States of America. 1996 August 20; 93(17): 9055-60. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8799153&dopt=Abstract

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The ocular albinism type 1 gene product is an N-glycoprotein but glycosylation is not required for its subcellular distribution. Author(s): Shen B, Orlow SJ. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2001 December; 14(6): 485-90. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11775061&dopt=Abstract

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The oculocutaneous albinism type IV gene Matp is a new marker of pigment cell precursors during mouse embryonic development. Author(s): Baxter LL, Pavan WJ. Source: Mechanisms of Development. 2002 August; 116(1-2): 209-12. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12128226&dopt=Abstract

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The perifoveal vasculature in albinism. Author(s): Gregor Z. Source: The British Journal of Ophthalmology. 1978 August; 62(8): 554-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=687555&dopt=Abstract

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The pink-eyed dilution gene and the molecular pathogenesis of tyrosinase-positive albinism (OCA2). Author(s): Manga P, Orlow SJ. Source: The Journal of Dermatology. 1999 November; 26(11): 738-47. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10635616&dopt=Abstract

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The platelet defect associated with albinism. Author(s): Hardisty RM, Mills DC. Source: Annals of the New York Academy of Sciences. 1972 October 27; 201: 429-36. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4509692&dopt=Abstract

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The recognition and management of albinism. Author(s): Abadi R, Pascal E. Source: Ophthalmic & Physiological Optics : the Journal of the British College of Ophthalmic Opticians (Optometrists). 1989 January; 9(1): 3-15. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2512527&dopt=Abstract

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The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): A model for understanding the molecular biology of melanin formation. Author(s): Oetting WS. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2000 October; 13(5): 320-5. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11041207&dopt=Abstract

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The tyrosinase gene in gorillas and the albinism of 'Snowflake'. Author(s): Martinez-Arias R, Comas D, Andres A, Abello MT, Domingo-Roura X, Bertranpetit J. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2000 December; 13(6): 467-70. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11153699&dopt=Abstract

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The tyrosinase-positive oculocutaneous albinism gene shows locus homogeneity on chromosome 15q11-q13 and evidence of multiple mutations in southern African negroids. Author(s): Kedda MA, Stevens G, Manga P, Viljoen C, Jenkins T, Ramsay M. Source: American Journal of Human Genetics. 1994 June; 54(6): 1078-84. Erratum In: Am J Hum Genet 1994 September; 55(3): 602. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8198130&dopt=Abstract

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The tyrosinase-positive oculocutaneous albinism locus is not linked to the betaglobin locus in man. Author(s): Heim RA, Dunn DS, Candy SE, Zwane E, Kromberg JG, Jenkins T. Source: Human Genetics. 1988 May; 79(1): 89. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3130302&dopt=Abstract

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The tyrosinase-positive oculocutaneous albinism locus maps to chromosome 15q11.2q12. Author(s): Ramsay M, Colman MA, Stevens G, Zwane E, Kromberg J, Farrall M, Jenkins T. Source: American Journal of Human Genetics. 1992 October; 51(4): 879-84. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1415228&dopt=Abstract

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The value of flash visual evoked potentials in albinism. Author(s): Fitzgerald K, Cibis GW. Source: Journal of Pediatric Ophthalmology and Strabismus. 1994 January-February; 31(1): 18-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8195958&dopt=Abstract

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Three different frameshift mutations of the tyrosinase gene in type IA oculocutaneous albinism. Author(s): Oetting WS, Mentink MM, Summers CG, Lewis RA, White JG, King RA. Source: American Journal of Human Genetics. 1991 July; 49(1): 199-206. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1905879&dopt=Abstract

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Toward expression mapping of albinism-deafness syndrome (ADFN) locus on chromosome Xq26. Author(s): Jacob AN, Kandpal G, Gill N, Kandpal RP. Source: Somatic Cell and Molecular Genetics. 1998 March; 24(2): 135-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9919313&dopt=Abstract

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Transillumination of iris and subnormal visual acuity--ocular albinism? Author(s): Sjodell L, Sjostrom A, Abrahamsson M. Source: The British Journal of Ophthalmology. 1996 July; 80(7): 617-23. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8795373&dopt=Abstract

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Two distinct patterns of visual evoked response asymmetry in human albinism. Author(s): Carroll WM, Jay BS, McDonald WI, Halliday AM. Source: Nature. 1980 August 7; 286(5773): 604-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7402338&dopt=Abstract

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Two spatio-temporal filters in human vision. 2. Selective modification in amblyopia, albinism, and hemianopia. Author(s): Grounds AR, Holliday IE, Ruddock KH. Source: Biological Cybernetics. 1983; 47(3): 191-201. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6615917&dopt=Abstract

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Type 2 oculocutaneous albinism (OCA2) in Zimbabwe and Cameroon: distribution of the 2.7-kb deletion allele of the P gene. Author(s): Puri N, Durbam-Pierre D, Aquaron R, Lund PM, King RA, Brilliant MH. Source: Human Genetics. 1997 October; 100(5-6): 651-6. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9341887&dopt=Abstract

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Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. Author(s): Schnur RE, Sellinger BT, Holmes SA, Wick PA, Tatsumura YO, Spritz RA. Source: The Journal of Investigative Dermatology. 1996 May; 106(5): 1137-40. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8618053&dopt=Abstract

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Tyrosinase gene mutations associated with type IB (“yellow”) oculocutaneous albinism. Author(s): Giebel LB, Tripathi RK, Strunk KM, Hanifin JM, Jackson CE, King RA, Spritz RA. Source: American Journal of Human Genetics. 1991 June; 48(6): 1159-67. Erratum In: Am J Hum Genet 1991 September; 49(3): 696. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1903591&dopt=Abstract

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Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Author(s): Tripathi RK, Strunk KM, Giebel LB, Weleber RG, Spritz RA. Source: American Journal of Medical Genetics. 1992 July 15; 43(5): 865-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1642278&dopt=Abstract

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Tyrosinase positive albinism with familial 46,XY,t(2;4) (q31.2;q31.22) balanced translocation. Author(s): Walpole IR, Mulcahy MT. Source: Journal of Medical Genetics. 1991 July; 28(7): 482-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1910093&dopt=Abstract

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Tyrosinase positive oculocutaneous albinism among the Zuni and the Brandywine triracial isolate: biochemical and clinical characteristics and fertility. Author(s): Witkop CJ Jr, Niswander JD, Bergsma DR, Workman PL, White JG. Source: American Journal of Physical Anthropology. 1972 May; 36(3): 397-405. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4624656&dopt=Abstract

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Tyrosinase-negative albinism with congenital malformations and squamous cell carcinoma of the genitalia. Author(s): Claudy AL, Ortonne JP. Source: Acta Dermato-Venereologica. 1982; 62(3): 260-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6179374&dopt=Abstract

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Tyrp1 and oculocutaneous albinism type 3. Author(s): Sarangarajan R, Boissy RE. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 2001 December; 14(6): 437-44. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11775055&dopt=Abstract

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Unilateral alpha reactivity: an electroencephalographic finding in albinism. Author(s): Smith SA, Wong PK, Jan JE. Source: Journal of Clinical Neurophysiology : Official Publication of the American Electroencephalographic Society. 1998 March; 15(2): 146-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9563581&dopt=Abstract

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Unusual combination of genetic defects in a Sicilian boy: G gamma delta beta thalassemia, G gamma A gamma heterocellular HPFH, beta (0) thalassemia, and albinism. Author(s): Schiliro G, Pavone L, Romeo MA, Russo A, Musumeci S, Russo G. Source: American Journal of Medical Genetics. 1983 June; 15(2): 225-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6192718&dopt=Abstract

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Utility of linked markers in genetic counseling: estimation of carrier risks in X-linked ocular albinism. Author(s): Rebbeck TR, Jordan HA, Schnur RE, Rogatko A. Source: American Journal of Medical Genetics. 1997 May 2; 70(1): 58-66. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9129743&dopt=Abstract

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Variable expression of albinism within a single kindred. Author(s): Castronuovo S, Simon JW, Kandel GL, Morier A, Wolf B, Witkop CJ, Jenkins PL. Source: American Journal of Ophthalmology. 1991 April 15; 111(4): 419-26. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1901453&dopt=Abstract

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Variable expression of vision in sibs with albinism. Author(s): Summers CG, Creel D, Townsend D, King RA. Source: American Journal of Medical Genetics. 1991 September 1; 40(3): 327-31. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1951438&dopt=Abstract

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VEP in albinism. Author(s): Apkarian P. Source: Ophthalmology. 1994 December; 101(12): 1867-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7997322&dopt=Abstract

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VEP projections in congenital nystagmus; VEP asymmetry in albinism: a comparison study. Author(s): Apkarian P, Shallo-Hoffmann J. Source: Investigative Ophthalmology & Visual Science. 1991 August; 32(9): 2653-61. Erratum In: Invest Ophthalmol Vis Sci 1992 March; 33(3): 691-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1651299&dopt=Abstract

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Vision defects in albinism. Author(s): Perez-Carpinell J, Capilla P, Illueca C, Morales J. Source: Optometry and Vision Science : Official Publication of the American Academy of Optometry. 1992 August; 69(8): 623-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1513558&dopt=Abstract

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Vision in albinism. Author(s): Summers CG. Source: Trans Am Ophthalmol Soc. 1996; 94: 1095-155. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8981720&dopt=Abstract

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Visual acuity development in tyrosinase negative oculocutaneous albinism. Author(s): Jacobson SG, Mohindra I, Held R, Dryja TP, Albert DM. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 1984 February 29; 56(4): 337-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6425027&dopt=Abstract

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Visual anomalies associated with albinism. Author(s): Creel DJ, Summers CG, King RA. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 193-200. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2280977&dopt=Abstract

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Visual evoked potential evidence of albino-like chiasmal misrouting in a patient with Angelman syndrome with no ocular features of albinism. Author(s): Thompson DA, Kriss A, Cottrell S, Taylor D. Source: Developmental Medicine and Child Neurology. 1999 September; 41(9): 633-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10503922&dopt=Abstract

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Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinism. Author(s): Castle D, Kromberg J, Kowalsky R, Moosa R, Gillman N, Zwane E, Fritz V. Source: Journal of Medical Genetics. 1988 December; 25(12): 835-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3148727&dopt=Abstract

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Visual pathway abnormalities in albinism and infantile nystagmus: VECPs and stereoacuity measurements. Author(s): Guo SQ, Reinecke RD, Fendick M, Calhoun JH. Source: Journal of Pediatric Ophthalmology and Strabismus. 1989 March-April; 26(2): 97-104. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2709284&dopt=Abstract

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Visual resolution limits in human albinism. Author(s): Abadi RV, Pascal E. Source: Vision Research. 1991; 31(7-8): 1445-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1891830&dopt=Abstract

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X linked ocular albinism in Japanese patients. Author(s): Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M. Source: The British Journal of Ophthalmology. 1995 February; 79(2): 139-43. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7696233&dopt=Abstract

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X mapping in man: evidence against direct measurable linkage between ocular albinism and deutan colour blindness. Author(s): Pearce WG, Sanger R. Source: Journal of Medical Genetics. 1976 August; 13(4): 319. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1085370&dopt=Abstract

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X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis. Author(s): Zlotogora J. Source: American Journal of Medical Genetics. 1995 November 20; 59(3): 386-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8599367&dopt=Abstract

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X-linked inheritance of ocular albinism with late-onset sensorineural deafness. Author(s): Winship I, Gericke G, Beighton P. Source: American Journal of Medical Genetics. 1984 December; 19(4): 797-803. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6542750&dopt=Abstract

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X-linked ocular albinism (Nettleship-Falls): a novel 29-bp deletion in exon 1. Carrier detection by ophthalmic examination and DNA analysis. Author(s): Rudolph G, Meindl A, Bechmann M, Schworm HD, Achatz H, Boergen KP, Kampik A, Berninger T, Meitinger T. Source: Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie. 2001 March; 239(3): 167-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=11405065&dopt=Abstract

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X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3. Author(s): Winship IM, Babaya M, Ramesar RS. Source: Genomics. 1993 November; 18(2): 444-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8288253&dopt=Abstract

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X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. Author(s): O'Donnell FE Jr, Green WR, Fleischman JA, Hambrick GW. Source: Archives of Ophthalmology. 1978 July; 96(7): 1189-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=666626&dopt=Abstract

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X-linked ocular albinism. Author(s): Walker BA, Martyn LJ, Coffman T. Source: Birth Defects Orig Artic Ser. 1971 March; 7(3): 200-2. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=5173146&dopt=Abstract

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X-linked ocular albinism. An oculocutaneous macromelanosomal disorder. Author(s): O'Donnell FE Jr, Hambrick GW Jr, Green WR, Iliff WJ, Stone DL. Source: Archives of Ophthalmology. 1976 November; 94(11): 1883-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=985163&dopt=Abstract

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X-linked ocular albinism. Characteristic pattern of affection in female carriers. Author(s): Lang GE, Rott HD, Pfeiffer RA. Source: Ophthalmic Paediatr Genet. 1990 December; 11(4): 265-71. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2096354&dopt=Abstract

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X-linked ocular albinism: a family containing a manifesting heterozygote, and an affected male married to a female with autosomal recessive ocular albinism. Author(s): Jaeger C, Jay B. Source: Human Genetics. 1981; 56(3): 299-304. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7239514&dopt=Abstract

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X-linked ocular albinism: fundus of a heterozygous female. Author(s): Costa DL, Huang SJ, Donsoff IM, Yannuzzi LA. Source: Retina (Philadelphia, Pa.). 2003 June; 23(3): 410-1. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12824848&dopt=Abstract

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X-linked ocular albinism: prevalence and mutations--a national study. Author(s): Rosenberg T, Schwartz M. Source: European Journal of Human Genetics : Ejhg. 1998 November-December; 6(6): 570-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9887374&dopt=Abstract

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X-linked ocular albinism: relative value of skin biopsy, iris transillumination and funduscopy in identifying affected males and carriers. Author(s): Cortin P, Tremblay M, Lemagne JM. Source: Can J Ophthalmol. 1981 July; 16(3): 121-3. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7296358&dopt=Abstract

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Yellow mutant albinism: cytochemical, ultrastructural, and genetic characterization suggesting multiple allelism. Author(s): Hu F, Hanifin JM, Prescott GH, Tongue AC. Source: American Journal of Human Genetics. 1980 May; 32(3): 387-95. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=6770679&dopt=Abstract

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Zinc and copper metabolism in oculocutaneous albinism in the Caucasian. Author(s): Silverstone BZ, Nawratzki I, Berson D, Yanko L. Source: Metab Pediatr Syst Ophthalmol. 1986; 9(1): 589-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3133536&dopt=Abstract

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CHAPTER 2. NUTRITION AND ALBINISM Overview In this chapter, we will show you how to find studies dedicated specifically to nutrition and albinism.

Finding Nutrition Studies on Albinism The National Institutes of Health’s Office of Dietary Supplements (ODS) offers a searchable bibliographic database called the IBIDS (International Bibliographic Information on Dietary Supplements; National Institutes of Health, Building 31, Room 1B29, 31 Center Drive, MSC 2086, Bethesda, Maryland 20892-2086, Tel: 301-435-2920, Fax: 301-480-1845, E-mail: [email protected]). The IBIDS contains over 460,000 scientific citations and summaries about dietary supplements and nutrition as well as references to published international, scientific literature on dietary supplements such as vitamins, minerals, and botanicals.7 The IBIDS includes references and citations to both human and animal research studies. As a service of the ODS, access to the IBIDS database is available free of charge at the following Web address: http://ods.od.nih.gov/databases/ibids.html. After entering the search area, you have three choices: (1) IBIDS Consumer Database, (2) Full IBIDS Database, or (3) Peer Reviewed Citations Only. Now that you have selected a database, click on the “Advanced” tab. An advanced search allows you to retrieve up to 100 fully explained references in a comprehensive format. Type “albinism” (or synonyms) into the search box, and click “Go.” To narrow the search, you can also select the “Title” field.

7 Adapted from http://ods.od.nih.gov. IBIDS is produced by the Office of Dietary Supplements (ODS) at the National Institutes of Health to assist the public, healthcare providers, educators, and researchers in locating credible, scientific information on dietary supplements. IBIDS was developed and will be maintained through an interagency partnership with the Food and Nutrition Information Center of the National Agricultural Library, U.S. Department of Agriculture.

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The following information is typical of that found when using the “Full IBIDS Database” to search for “albinism” (or a synonym): •

An investigation into a possible relationship between vitamin D, parathyroid hormone, calcium and magnesium in a normally pigmented and an albino rural black population in the Northern Province of South Africa. Author(s): Department of Physiology, University of the North, Sovenga, Northern Province, South Africa. [email protected] Source: Cornish, D A Maluleke, V Mhlanga, T Biofactors. 2000; 11(1-2): 35-8 0951-6433

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Biochemical and immunological changes on oral glutamate feeding in male albino rats. Author(s): Department of Experimental Biology and Reproductive Physiology, Defence Institute of Physiology and Allied Sciences, Timarpur, Delhi, India. Source: KuMarch, D Bansal, A Thomas, P Sairam, M Sharma, S K Mongia, S S Singh, R Selvamurthy, W Int-J-Biometeorol. 1999 April; 42(4): 201-4 0020-7128

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Differential effect of ischemia/reperfusion on pigmented and albino rabbit retina. Author(s): Laboratoire de Physiologie Cellulaire, Universite Montpellier I, France. Source: Muller, A Villain, M Favreau, B Sandillon, F Privat, A Bonne, C J-OculPharmacol-Ther. 1996 Fall; 12(3): 337-42 1080-7683

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Long-term effects of a single dose of ultraviolet-B on albino rabbit cornea--II. Deturgescence and fluid pump assessed in vitro. Author(s): University of Waterloo, School of Optometry, Ontario, Canada. Source: Doughty, M J Cullen, A P Photochem-Photobiol. 1990 April; 51(4): 439-49 00318655

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Macrocytosis and pseudoalbinism: manifestations of selenium deficiency. Author(s): Department of Pediatrics, University of California, Los Angeles. Source: Vinton, N E Dahlstrom, K A Strobel, C T Ament, M E J-Pediatr. 1987 November; 111(5): 711-7 0022-3476

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Melanins in physiological conditions protect against lipoperoxidation. A study on albino and pigmented Xenopus. Author(s): Institute of “Biologia generale,” University of Catania, Italy. Source: Corsaro, C Scalia, M Blanco, A R Aiello, I Sichel, G Pigment-Cell-Res. 1995 October; 8(5): 279-82 0893-5785

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Melatonin reduction by lithium and albinism in quail and hamsters. Author(s): Department of Zoology, University of Alberta, Edmonton, Canada. Source: Lauber, J K Vriend, J Gen-Comp-Endocrinol. 1989 December; 76(3): 414-20 00166480

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Metallothionein mRNA expression in mice homozygous for chromosomal deletions around the albino locus. Author(s): Department of Biological Sciences, University of Pittsburgh, PA 15260. Source: DeFranco, D Morris, S M Leonard, C M Gluecksohn Waelsch, S Proc-Natl-AcadSci-U-S-A. 1988 February; 85(4): 1161-4 0027-8424

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Morphological changes in the neuronal substrate for the optokinetic reflex in albino ferrets. Author(s): Allgemeine Zoologie und Neurobiologie, Ruhr-Universitat Bochum, Germany. Source: Telkes, I Garipis, N Hoffmann, K P Exp-Brain-Res. 2001 October; 140(3): 345-56 0014-4819

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Partial albinism with immunodeficiency (Griscelli syndrome). Author(s): Unite d'Immunologie et d'Hematologie, INSERM Unite 132, Paris, France. Source: Klein, C Philippe, N Le Deist, F Fraitag, S Prost, C Durandy, A Fischer, A Griscelli, C J-Pediatr. 1994 December; 125(6 Pt 1): 886-95 0022-3476

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Pigmented cell lines of mouse albino melanocytes containing a tyrosinase cDNA with an inducible promoter. Author(s): Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, Pennsylvania 19111. Source: Larue, L Mintz, B Somat-Cell-Mol-Genet. 1990 July; 16(4): 361-8 0740-7750

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Retinas from albino rats are more susceptible to ischaemic damage than age-matched pigmented animals. Author(s): Nuffield Laboratory of Ophthalmology, University of Oxford, Walton Street, Oxford, UK. Source: Safa, R Osborne, N N Brain-Res. 2000 April 17; 862(1-2): 36-42 0006-8993

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Spatiotemporal features of early neuronogenesis differ in wild-type and albino mouse retina. Author(s): Center for Neurobiology and Behavior, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, New York 10032, USA. [email protected] Source: Rachel, Rivka A Dolen, Gul Hayes, Nancy L Lu, Alice Erskine, Lynda Nowakowski, Richard S Mason, Carol A J-Neurosci. 2002 June 1; 22(11): 4249-63 15292401

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Utilization of the sex-linked gene for imperfect albinism (S*ALS). 1. Effect of early weight loss on chick metabolism. Author(s): Departement des Sciences Animales, Universite Laval, Ste-Foy, Quebec, Canada. Source: Santos, G A Silversides, F G Poult-Sci. 1996 November; 75(11): 1321-9 0032-5791

Federal Resources on Nutrition In addition to the IBIDS, the United States Department of Health and Human Services (HHS) and the United States Department of Agriculture (USDA) provide many sources of information on general nutrition and health. Recommended resources include: •

healthfinder®, HHS’s gateway to health information, including diet and nutrition: http://www.healthfinder.gov/scripts/SearchContext.asp?topic=238&page=0

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The United States Department of Agriculture’s Web site dedicated to nutrition information: www.nutrition.gov

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The Food and Drug Administration’s Web site for federal food safety information: www.foodsafety.gov

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The National Action Plan on Overweight and Obesity sponsored by the United States Surgeon General: http://www.surgeongeneral.gov/topics/obesity/

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The Center for Food Safety and Applied Nutrition has an Internet site sponsored by the Food and Drug Administration and the Department of Health and Human Services: http://vm.cfsan.fda.gov/

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Center for Nutrition Policy and Promotion sponsored by the United States Department of Agriculture: http://www.usda.gov/cnpp/

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Food and Nutrition Information Center, National Agricultural Library sponsored by the United States Department of Agriculture: http://www.nal.usda.gov/fnic/

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Food and Nutrition Service sponsored by the United States Department of Agriculture: http://www.fns.usda.gov/fns/

Additional Web Resources A number of additional Web sites offer encyclopedic information covering food and nutrition. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=174&layer=&from=subcats

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Family Village: http://www.familyvillage.wisc.edu/med_nutrition.html

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Google: http://directory.google.com/Top/Health/Nutrition/

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Healthnotes: http://www.healthnotes.com/

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Open Directory Project: http://dmoz.org/Health/Nutrition/

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Yahoo.com: http://dir.yahoo.com/Health/Nutrition/

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WebMDHealth: http://my.webmd.com/nutrition

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

The following is a specific Web list relating to albinism; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation: •

Minerals Copper Source: WholeHealthMD.com, LLC.; www.wholehealthmd.com Hyperlink: http://www.wholehealthmd.com/refshelf/substances_view/0,1525,886,00.html

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CHAPTER 3. ALTERNATIVE MEDICINE AND ALBINISM Overview In this chapter, we will begin by introducing you to official information sources on complementary and alternative medicine (CAM) relating to albinism. At the conclusion of this chapter, we will provide additional sources.

National Center for Complementary and Alternative Medicine The National Center for Complementary and Alternative Medicine (NCCAM) of the National Institutes of Health (http://nccam.nih.gov/) has created a link to the National Library of Medicine’s databases to facilitate research for articles that specifically relate to albinism and complementary medicine. To search the database, go to the following Web site: http://www.nlm.nih.gov/nccam/camonpubmed.html. Select “CAM on PubMed.” Enter “albinism” (or synonyms) into the search box. Click “Go.” The following references provide information on particular aspects of complementary and alternative medicine that are related to albinism: •

A health intervention programme for children with albinism at a special school in South Africa. Author(s): Lund PM, Gaigher R. Source: Health Education Research. 2002 June; 17(3): 365-72. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=12120851&dopt=Abstract

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A sociological study of children with albinism at a special school in the Limpopo province. Author(s): Gaigher RJ, Lund PM, Makuya E. Source: Curationis. 2002 November; 25(4): 4-11. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=14509105&dopt=Abstract

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Albinism and auditory function in the laboratory mouse. I. Effects of single-gene substitutions on auditory physiology, audiogenic seizures, and developmental

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processes. Author(s): Henry KR, Haythorn MM. Source: Behavior Genetics. 1975 April; 5(2): 137-49. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1055577&dopt=Abstract •

Albino Fellowship. A new kind of welfare organization? Author(s): Taylor WO. Source: The Practitioner. 1980 November; 224(1349): 1184-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7232281&dopt=Abstract

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An interactive effect of visual deprivation and pigmentation on the reactivity of mice to light. Author(s): Ward R, Lariviere H. Source: Behavior Genetics. 1980 July; 10(4): 419-25. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7213312&dopt=Abstract

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An ultrastructural study of melanocytes and melanosomes in the skin and hair bulbs of rufous albinos. Author(s): Kidson SH, Richards PD, Rawoot F, Kromberg JG. Source: Pigment Cell Research / Sponsored by the European Society for Pigment Cell Research and the International Pigment Cell Society. 1993 August; 6(4 Pt 1): 209-14. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8248018&dopt=Abstract

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Audiogram of the hooded Norway rat. Author(s): Heffner HE, Heffner RS, Contos C, Ott T. Source: Hearing Research. 1994 March; 73(2): 244-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8188553&dopt=Abstract

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Auditory frequency and intensity discrimination in pigmented rats. Author(s): Syka J, Rybalko N, Brozek G, Jilek M. Source: Hearing Research. 1996 October; 100(1-2): 107-13. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8922984&dopt=Abstract

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Comparative psychological studies of Negroes and whites in the United States: 19591965. Author(s): Dreger RM, Miller KS. Source: Psychological Bulletin. 1968 September; 70(3): Suppl: 1-58. Review. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4878850&dopt=Abstract

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Comparison of cochlear microphonic potentials from albino and pigmented guinea pigs. Author(s): Nuttall AL.

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Source: Acta Oto-Laryngologica. 1974 September-October; 78(3-4): 187-91. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4432742&dopt=Abstract •

Comparison of the ototoxic effect of kanamycin on albino and pigmented rats, studied using an operant method. Author(s): Harpur ES, D'Arcy PF. Source: Experientia. 1976 December 15; 32(12): 1562-4. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1021451&dopt=Abstract

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Differential effects of gentamicin on the distribution of cochlear function in albino and pigmented guinea pigs. Author(s): Conlee JW, Bennett ML, Creel DJ. Source: Acta Oto-Laryngologica. 1995 May; 115(3): 367-74. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7653256&dopt=Abstract

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Differential susceptibility to gentamicin ototoxicity between albino and pigmented guinea pigs. Author(s): Conlee JW, Gill SS, McCandless PT, Creel DJ. Source: Hearing Research. 1989 August; 41(1): 43-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2793613&dopt=Abstract

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Effect of dietary fat and environmental lighting on the phospholipid molecular species of rat photoreceptor membranes. Author(s): Wiegand RD, Koutz CA, Chen H, Anderson RE. Source: Experimental Eye Research. 1995 March; 60(3): 291-306. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7789409&dopt=Abstract

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Effect of dietary fat on the response of the rat retina to chronic and acute light stress. Author(s): Koutz CA, Wiegand RD, Rapp LM, Anderson RE. Source: Experimental Eye Research. 1995 March; 60(3): 307-16. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7789410&dopt=Abstract

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Effects of prolonged uniocular dark adaptation on the direct-current electroretinogram of pigmented and albino rabbits. Author(s): Textorius O, Gottvall E. Source: Documenta Ophthalmologica. Advances in Ophthalmology. 1995; 90(3): 305-17. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8846738&dopt=Abstract

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High-dose methylprednisolone and VP-16 in treatment of Griscelli syndrome with central nervous system involvement. Author(s): Gurgey A, Sayli T, Gunay M, Ersoy F, Kucukali T, Kale G, Caglar M.

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Source: American Journal of Hematology. 1994 December; 47(4): 331-2. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=7977308&dopt=Abstract •

Immunomodulatory activity of a Unani gold preparation used in Indian system of medicine. Author(s): Bajaj S, Ahmad I, Fatima M, Raisuddin S, Vohora SB. Source: Immunopharmacology and Immunotoxicology. 1999 February; 21(1): 151-61. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=10084336&dopt=Abstract

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Influence of eye pigmentation and light deprivation on inherited retinal dystrophy in the rat. Author(s): LaVail MM, Battelle BA. Source: Experimental Eye Research. 1975 August; 21(2): 167-92. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1164921&dopt=Abstract

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Microtubule proteins in axolotl eggs and developing embryos. Author(s): Raff EC. Source: Developmental Biology. 1977 July 1; 58(1): 56-75. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=559603&dopt=Abstract

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Photic stimulation and visual physiology: implications for behavioral studies. Author(s): Mindel JS, Glick SD. Source: Behav Biol. 1973 March; 8(3): 325-35. No Abstract Available. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4196218&dopt=Abstract

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Quantitative differences in endolymphatic calcium and endocochlear potential between pigmented and albino guinea pigs. Author(s): Gill SS, Salt AN. Source: Hearing Research. 1997 November; 113(1-2): 191-7. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=9387998&dopt=Abstract

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Red or rufous albinism in southern Africa. Author(s): Kromberg JG, Castle DJ, Zwane EM, Bothwell J, Kidson S, Bartel P, Phillips JI, Jenkins T. Source: Ophthalmic Paediatr Genet. 1990 September; 11(3): 229-35. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=2126368&dopt=Abstract

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Shiver-audiometry in the conditioned guinea-pig (simplified Anderson-Wedenberg test). Author(s): Crifo S.

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Source: Acta Oto-Laryngologica. 1973 January; 75(1): 38-44. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4689027&dopt=Abstract •

Studies on the platelet surface-associated von Willebrand factor. Author(s): Martin SE, Johnson MM, Abel RF. Source: American Journal of Hematology. 1994 May; 46(1): 1-8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8184872&dopt=Abstract

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Support group for persons with albinism. Author(s): Wilson R. Source: Dermatology Nursing / Dermatology Nurses' Association. 1992 December; 4(6): 484. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1286004&dopt=Abstract

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The Chediak-Higashi syndrome: continuous suspension cultures derived from peripheral blood. Author(s): Blume RS, Glade PR, Gralnick HR, Chessin LN, Haase AT, Wolff SM. Source: Blood. 1969 June; 33(6): 821-32. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=4181890&dopt=Abstract

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The influence of pigmentation of rats and guinea-pigs on the ototoxicity of kanamycin and neomycin. Author(s): Harpur ES, D'Arcy PF. Source: Experientia. 1975 November 15; 31(11): 1323-5. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=1204792&dopt=Abstract

•

The National Organization for Albinism and Hypopigmentation (NOAH) Author(s): Wilson R. Source: Insight (American Society of Ophthalmic Registered Nurses). 1993 December; 18(4): 8. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8301192&dopt=Abstract

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Utilization of the sex-linked gene for imperfect albinism (S*ALS). 1. Effect of early weight loss on chick metabolism. Author(s): Santos GA, Silversides FG. Source: Poultry Science. 1996 November; 75(11): 1321-9. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=8933584&dopt=Abstract

•

Visual improvement in an albinotic patient with an alteration of congenital nystagmus. Author(s): Abplanalp P, Bedell H.

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Source: Am J Optom Physiol Opt. 1987 December; 64(12): 944-51. http://www.ncbi.nlm.nih.gov:80/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_ uids=3445891&dopt=Abstract

Additional Web Resources A number of additional Web sites offer encyclopedic information covering CAM and related topics. The following is a representative sample: •

Alternative Medicine Foundation, Inc.: http://www.herbmed.org/

•

AOL: http://search.aol.com/cat.adp?id=169&layer=&from=subcats

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Chinese Medicine: http://www.newcenturynutrition.com/

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drkoop.com: http://www.drkoop.com/InteractiveMedicine/IndexC.html

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Family Village: http://www.familyvillage.wisc.edu/med_altn.htm

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Google: http://directory.google.com/Top/Health/Alternative/

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Healthnotes: http://www.healthnotes.com/

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MedWebPlus: http://medwebplus.com/subject/Alternative_and_Complementary_Medicine

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Open Directory Project: http://dmoz.org/Health/Alternative/

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HealthGate: http://www.tnp.com/

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WebMDHealth: http://my.webmd.com/drugs_and_herbs

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WholeHealthMD.com: http://www.wholehealthmd.com/reflib/0,1529,00.html

•

Yahoo.com: http://dir.yahoo.com/Health/Alternative_Medicine/

The following is a specific Web list relating to albinism; please note that any particular subject below may indicate either a therapeutic use, or a contraindication (potential danger), and does not reflect an official recommendation: •

General Overview Colds and Flus Source: Prima Communications, Inc.www.personalhealthzone.com Macular Degeneration Source: Healthnotes, Inc.; www.healthnotes.com Varicose Veins Source: Prima Communications, Inc.www.personalhealthzone.com

Alternative Medicine 93

•

Herbs and Supplements Aloe Alternative names: Aloe vera L. Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Andrographis Source: Prima Communications, Inc.www.personalhealthzone.com Aristolochia Alternative names: Snakeroot, Guaco; Aristolochia sp Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Cetyl Myristoleate Source: Healthnotes, Inc.; www.healthnotes.com Ginger Alternative names: Zingiber officinale Source: Healthnotes, Inc.; www.healthnotes.com Gotu Kola Source: Prima Communications, Inc.www.personalhealthzone.com Gymnema Alternative names: Gymnema sylvestre Source: Healthnotes, Inc.; www.healthnotes.com Hibiscus Alternative names: Hibiscus, Roselle; Hibiscus sp. Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Musa Banana Alternative names: Plantain, Banana; Musa sp. Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Ocimum Alternative names: Basil, Albahaca; Ocimum basilicum Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Swertia Alternative names: Swertia sp Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org Terminalia Alternative names: Myrobalans; Terminalia arjuna Source: Alternative Medicine Foundation, Inc.; www.amfoundation.org

General References A good place to find general background information on CAM is the National Library of Medicine. It has prepared within the MEDLINEplus system an information topic page

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dedicated to complementary and alternative medicine. To access this page, go to the MEDLINEplus site at http://www.nlm.nih.gov/medlineplus/alternativemedicine.html. This Web site provides a general overview of various topics and can lead to a number of general sources.

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CHAPTER 4. DISSERTATIONS ON ALBINISM Overview In this chapter, we will give you a bibliography on recent dissertations relating to albinism. We will also provide you with information on how to use the Internet to stay current on dissertations. IMPORTANT NOTE: When following the search strategy described below, you may discover non-medical dissertations that use the generic term “albinism” (or a synonym) in their titles. To accurately reflect the results that you might find while conducting research on albinism, we have not necessarily excluded non-medical dissertations in this bibliography.

Dissertations on Albinism ProQuest Digital Dissertations, the largest archive of academic dissertations available, is located at the following Web address: http://wwwlib.umi.com/dissertations. From this archive, we have compiled the following list covering dissertations devoted to albinism. You will see that the information provided includes the dissertation’s title, its author, and the institution with which the author is associated. The following covers recent dissertations found when using this search procedure: •

Investigation of a Gene for Imperfect Albinism in Chickens by Silversides, Frederick Gordon; Phd from The University of Saskatchewan (canada), 1989 http://wwwlib.umi.com/dissertations/fullcit/NL49921

•

Molecular Defects in Type II Oculocutaneous Albinism: Pink-eyed Dilution Protein Controls the Processing of Tyrosinase by Chen, Kun; , Phd from New York University, 2003, 162 pages http://wwwlib.umi.com/dissertations/fullcit/3075486

•

The Effects of the Physical Features Associated with Albinism on the Self-esteem of African-american Youth with Albinism by Gold, Moniqueka Evette, Edd from Peabody College for Teachers of Vanderbilt University, 1998, 88 pages http://wwwlib.umi.com/dissertations/fullcit/9916005

•

The Voices of Albinism by Wan-kee-cheung, Nathalie; Ma from Concordia University (canada), 2002, 106 pages http://wwwlib.umi.com/dissertations/fullcit/MQ68394

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Keeping Current Ask the medical librarian at your library if it has full and unlimited access to the ProQuest Digital Dissertations database. From the library, you should be able to do more complete searches via http://wwwlib.umi.com/dissertations.

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CHAPTER 5. CLINICAL TRIALS AND ALBINISM Overview In this chapter, we will show you how to keep informed of the latest clinical trials concerning albinism.

Recent Trials on Albinism The following is a list of recent trials dedicated to albinism.8 Further information on a trial is available at the Web site indicated. •

Clinical and Basic Investigations into Hermansky-Pudlak Syndrome Condition(s): Albinism; Intestinal Disease; Kidney Disease; Myocardial Disease; Pulmonary Fibrosis Study Status: This study is currently recruiting patients. Sponsor(s): National Human Genome Research Institute (NHGRI) Purpose - Excerpt: Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fatprotein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The major complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The purpose of this study is to perform research into the medical complications of HPS and begin to understand what causes these complications. Researchers will clinically evaluate patients with HPS of all ethnic backgrounds. They will obtain cells, blood components (plasma), and urine for future studies. Genetic tests (mutation analysis) to detect HPScausing genes will also be conducted. Study Type: Observational Contact(s): see Web site below

8

These are listed at www.ClinicalTrials.gov.

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Web Site: http://clinicaltrials.gov/ct/show/NCT00001456 •

Oral Pirfenidone for the Pulmonary Fibrosis of Hermansky-Pudlak Syndrome Condition(s): Albinism; Inborn Errors of Metabolism; Oculocutaneous Albinism; Platelet Storage Pool Deficiency; Pulmonary Fibrosis Study Status: This study is currently recruiting patients. Sponsor(s): National Human Genome Research Institute (NHGRI) Purpose - Excerpt: Hermansky-Pudlak Syndrome (HPS) is an inherited disease which results in decreased pigmentation (oculocutaneous albinism), bleeding problems due to a platelet abnormality (platelet storage pool defect), and storage of an abnormal fatprotein compound (lysosomal accumulation of ceroid lipofuscin). The disease can cause poor functioning of the lungs, intestine, kidneys, or heart. The most serious complication of the disease is pulmonary fibrosis and typically causes death in patients ages 40 - 50 years old. The disorder is common in Puerto Rico, where many of the clinical research studies on the disease have been conducted. Neither the full extent of the disease nor the basic cause of the disease is known. There is no known treatment for HPS. The drug Pirfenidone blocks the biochemical process of inflammation and has been reported to slow or reverse pulmonary fibrosis in animal systems. In this study researchers will select 40 patients diagnosed with pulmonary fibrosis 20 who have not received steroid therapy in the last 3 months and 20 currently taking steroids. The patients will be randomly divided into 4 groups. The patients will not know if they are taking pirfenidone or a placebo "sugar pill". 1. Group one will be patients not taking steroids who will receive pirfenidone. 2. Group two will be patients not taking steroids who will receive a placebo "sugar pill" 3. Group three will be patients taking steroids who will receive pirfenidone. 4. Group four will be patients taking steroids who will receive a placebo "sugar pill". The major outcome measurement of the therapy will be a change in the lung function (forced vital capacity). The study will be stopped if one therapy proves to be more effective than the others. Phase(s): Phase II Study Type: Interventional Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001596

•

Visual Function and Ocular Pigmentation in Albinism Condition(s): Albinism; Albinism, Ocular; Albinism, Oculocutaneous Study Status: This study is completed. Sponsor(s): National Eye Institute (NEI) Purpose - Excerpt: To study the relationship between visual function and ocular (iris, retina/choroidal) pigmentation in patients with albinism and other hypomelanotic disorders. To identify the carrier state in relatives of patients with ocular albinism. Study Type: Observational Contact(s): see Web site below Web Site: http://clinicaltrials.gov/ct/show/NCT00001153

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Keeping Current on Clinical Trials The U.S. National Institutes of Health, through the National Library of Medicine, has developed ClinicalTrials.gov to provide current information about clinical research across the broadest number of diseases and conditions. The site was launched in February 2000 and currently contains approximately 5,700 clinical studies in over 59,000 locations worldwide, with most studies being conducted in the United States. ClinicalTrials.gov receives about 2 million hits per month and hosts approximately 5,400 visitors daily. To access this database, simply go to the Web site at http://www.clinicaltrials.gov/ and search by “albinism” (or synonyms). While ClinicalTrials.gov is the most comprehensive listing of NIH-supported clinical trials available, not all trials are in the database. The database is updated regularly, so clinical trials are continually being added. The following is a list of specialty databases affiliated with the National Institutes of Health that offer additional information on trials: •

For clinical studies at the Warren Grant Magnuson Clinical Center located in Bethesda, Maryland, visit their Web site: http://clinicalstudies.info.nih.gov/

•

For clinical studies conducted at the Bayview Campus in Baltimore, Maryland, visit their Web site: http://www.jhbmc.jhu.edu/studies/index.html

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For cancer trials, visit the National Cancer Institute: http://cancertrials.nci.nih.gov/

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For eye-related trials, visit and search the Web page of the National Eye Institute: http://www.nei.nih.gov/neitrials/index.htm

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For heart, lung and blood trials, visit the Web page of the National Heart, Lung and Blood Institute: http://www.nhlbi.nih.gov/studies/index.htm

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For trials on aging, visit and search the Web site of the National Institute on Aging: http://www.grc.nia.nih.gov/studies/index.htm

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For rare diseases, visit and search the Web site sponsored by the Office of Rare Diseases: http://ord.aspensys.com/asp/resources/rsch_trials.asp

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For alcoholism, visit the National Institute on Alcohol Abuse and Alcoholism: http://www.niaaa.nih.gov/intramural/Web_dicbr_hp/particip.htm

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For trials on infectious, immune, and allergic diseases, visit the site of the National Institute of Allergy and Infectious Diseases: http://www.niaid.nih.gov/clintrials/

•

For trials on arthritis, musculoskeletal and skin diseases, visit newly revised site of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the National Institutes of Health: http://www.niams.nih.gov/hi/studies/index.htm

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For hearing-related trials, visit the National Institute on Deafness and Other Communication Disorders: http://www.nidcd.nih.gov/health/clinical/index.htm

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For trials on diseases of the digestive system and kidneys, and diabetes, visit the National Institute of Diabetes and Digestive and Kidney Diseases: http://www.niddk.nih.gov/patient/patient.htm

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For drug abuse trials, visit and search the Web site sponsored by the National Institute on Drug Abuse: http://www.nida.nih.gov/CTN/Index.htm

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For trials on mental disorders, visit and search the Web site of the National Institute of Mental Health: http://www.nimh.nih.gov/studies/index.cfm

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For trials on neurological disorders and stroke, visit and search the Web site sponsored by the National Institute of Neurological Disorders and Stroke of the NIH: http://www.ninds.nih.gov/funding/funding_opportunities.htm#Clinical_Trials

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CHAPTER 6. BOOKS ON ALBINISM Overview This chapter provides bibliographic book references relating to albinism. In addition to online booksellers such as www.amazon.com and www.bn.com, excellent sources for book titles on albinism include the Combined Health Information Database and the National Library of Medicine. Your local medical library also may have these titles available for loan.

Book Summaries: Online Booksellers Commercial Internet-based booksellers, such as Amazon.com and Barnes&Noble.com, offer summaries which have been supplied by each title’s publisher. Some summaries also include customer reviews. Your local bookseller may have access to in-house and commercial databases that index all published books (e.g. Books in Print). IMPORTANT NOTE: Online booksellers typically produce search results for medical and non-medical books. When searching for “albinism” at online booksellers’ Web sites, you may discover non-medical books that use the generic term “albinism” (or a synonym) in their titles. The following is indicative of the results you might find when searching for “albinism” (sorted alphabetically by title; follow the hyperlink to view more details at Amazon.com): •

Living With Albinism (First Book) by Elaine Landau; ISBN: 0531202968; http://www.amazon.com/exec/obidos/ASIN/0531202968/icongroupinterna

•

Remarkable facts in human albinism and leukism by Petrus Johannes Waardenburg; ISBN: 9023207270; http://www.amazon.com/exec/obidos/ASIN/9023207270/icongroupinterna

•

Too White to Be Black and Too Black to Be White: Living With Albinism by Lee G. Edwards (2001); ISBN: 1588200639; http://www.amazon.com/exec/obidos/ASIN/1588200639/icongroupinterna

The National Library of Medicine Book Index The National Library of Medicine at the National Institutes of Health has a massive database of books published on healthcare and biomedicine. Go to the following Internet site,

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http://locatorplus.gov/, and then select “Search LOCATORplus.” Once you are in the search area, simply type “albinism” (or synonyms) into the search box, and select “books only.” From there, results can be sorted by publication date, author, or relevance. The following was recently catalogued by the National Library of Medicine:9 •

A collective investigation as to the influence of albinism upon the eye. [Circular.]. Author: Gould, George Milbrey,; Year: 1894; Philadelphia, 1894

•

A comparative study of albinism, partial albinism, and vitiligo in man with reference to the presence and activity of melanocytes in areas of hypopigmentation; presentation of histological material with a discussion of techniques and review of the literature. Author: Kugelman, Thomas Peter.; Year: 1991; [New Haven, Dept. of Internal Medicine, Yale Univ. School of Medicine, 1960

•

A monograph on albinism in man, by Karl Pearson [and others]. Author: Pearson, Karl,; Year: 1978; London, Dulau, 1911-

•

Comparative study of albinism, partial albinism, and vitiligo in man with reference to the presence and activity of melanocytes in areas of hypopigmentation; presentation of histological material with a discussion of techniques and review of the literatur. Author: Kugelman, Thomas Peter; Year: 1960

•

Monograph on albinism in man, by Karl Pearson [and others]. Author: Pearson, Karl, 1857-1936; Year: 9999

•

Remarkable facts in human albinism and leukism. Author: Waardenburg, Petrus Johannes,; Year: 1982; Assen, Van Gorcum, 1970; ISBN: 0902320727

Chapters on Albinism In order to find chapters that specifically relate to albinism, an excellent source of abstracts is the Combined Health Information Database. You will need to limit your search to book chapters and albinism using the “Detailed Search” option. Go to the following hyperlink: http://chid.nih.gov/detail/detail.html. To find book chapters, use the drop boxes at the bottom of the search page where “You may refine your search by.” Select the dates and language you prefer, and the format option “Book Chapter.” Type “albinism” (or synonyms) into the “For these words:” box. The following is a typical result when searching for book chapters on albinism: •

Chapter 206: Pigment Disorders Source: in Berkow, R., ed. The Merck Manual of Medical Information: Home Edition (online version). Rahway, NJ: Merck and Company, Inc. 2000. 3 p. Contact: Available online from Merck and Company, Inc. (800) 819-9456. Website: www.merck.com/pubs/mmanual_home/contents.htm. Also available from your local book store. PRICE: $29.95 plus shipping.

9

In addition to LOCATORPlus, in collaboration with authors and publishers, the National Center for Biotechnology Information (NCBI) is currently adapting biomedical books for the Web. The books may be accessed in two ways: (1) by searching directly using any search term or phrase (in the same way as the bibliographic database PubMed), or (2) by following the links to PubMed abstracts. Each PubMed abstract has a "Books" button that displays a facsimile of the abstract in which some phrases are hypertext links. These phrases are also found in the books available at NCBI. Click on hyperlinked results in the list of books in which the phrase is found. Currently, the majority of the links are between the books and PubMed. In the future, more links will be created between the books and other types of information, such as gene and protein sequences and macromolecular structures. See http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Books.

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Summary: This chapter provides the general public and people who have skin pigment disorders with information on the symptoms and treatment of albinism, vitiligo, and melasma. The main skin pigment is melanin. Abnormally low pigment is usually restricted to small areas of skin. Increased amounts of melanin can be a response to hormonal changes or particular drugs or can occur as a result of certain diseases. Albinism is a rare, inherited disorder in which a person produces no melanin. People with this disorder are prone to sunburn and, thus, to skin cancers. They can minimize these problems by avoiding direct sunlight, wearing sunglasses, and applying sunscreen with a sun protection factor higher than 15. Vitiligo, a condition in which a loss of melanocytes results in smooth, whitish patches of skin, may occur after unusual physical trauma and tends to accompany certain other diseases. The condition is most striking in darkly pigmented people. There is no cure for vitiligo, but small areas can be camouflaged with various dyes. Psoralens plus ultraviolet A light treatment is sometimes effective. Melasma, which usually affects the face, is characterized by a roughly symmetric group of dark brown patches of pigmentation that are often clearly delineated. The condition is most likely to occur during pregnancy and may also appear in women taking oral contraceptives. Sunscreens and avoidance of sun exposure may prevent the condition from getting worse. •

Genetic Hearing Loss Associated with Eye Disorders Source: in Gorlin, R.J.; Toriello, H.V.; Cohen, M.M., Jr., eds. Hereditary Hearing Loss and Its Syndromes. New York, NY: Oxford University Press. 1995. p. 105-140. Contact: Available from Oxford University Press. 200 Madison Avenue, New York, NY 10016. (800) 334-4249 or (212) 679-7300. PRICE: $195.00 plus shipping and handling. ISBN: 0195065522. Summary: This chapter, from a text on hereditary hearing loss and its syndromes, discusses genetic hearing loss associated with eye disorders. Conditions covered include Usher syndrome (retinitis pigmentosis and sensorineural hearing loss); Alstrom syndrome; Edwards syndrome; retinitis pigmentosa, nystagmus, hemiplegic migraine, and sensorineural hearing loss; retinitis pigmentosa, vitiligo, and sensorineural hearing loss; Hersh syndrome; choroideremia, obesity, and congenital sensorineural hearing loss; Refsum syndrome; infantile Refsum syndrome; inverse retinitis pigmentosa, hypogonadism, and sensorineural hearing loss; miscellaneous disorders of pigmentary retinopathy and sensorineural hearing loss; myopia and congenital sensorineural hearing loss; Marshall syndrome; Holmes-Schepens syndrome; Harboyan syndrome; familial band keratopathy, abnormal calcium metabolism, and hearing loss; EhlersDanlos syndrome, type IV; corneal anesthesia, retinal abnormalities, mental retardation, unusual facies, and sensorineural hearing loss; DeHauwere syndrome; AbruzzoErickson syndrome; aniridia and sensorineural hearing loss; congenital total color blindness, cataracts, hyperinsulinism, and sensorineural hearing loss; total color blindness, liver degeneration, endocrine dysfunction, and sensorineural hearing loss; rod-cone dystrophy, renal dysfunction, and sensorineural hearing loss; OHAHA syndrome; IVIC syndrome; cataracts and progressive sensorineural hearing loss; Ohdo syndrome; Michels syndrome; Fraser syndrome; ocular albinism with late-onset sensorineural hearing loss; Norrie syndrome; Gernet syndrome; Jensen syndrome; BerkTabatznik syndrome; and Mohr-Mageroy syndrome. For each condition discussed, the author covers the ocular system involvement, the auditory system, laboratory findings, pathology, heredity, diagnosis, and prognosis. References are included in each section. 23 figures. 4 tables. 346 references.

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•

Common Ocular Disorders Found Among Deaf NTID Students Source: in Johnson, D.D. Deafness and Vision Disorders: Anatomy and Physiology, Assessment Procedures, Ocular Anomalies, and Educational Implications. Springfield, IL: Charles C. Thomas Publisher, Ltd. 1999. p. 95-223. Contact: Available from Charles C. Thomas Publisher, Ltd. 2600 South First Street, Springfield, IL 62794-9265. (800) 258-8980 or (217) 789-8980. Fax (217) 789-9130. PRICE: $74.95 plus shipping and handling. ISBN: 039806945X. Summary: This lengthy chapter is from a textbook written to help students preparing for work in the field of deafness to understand and incorporate an awareness of vision disorders in the deaf population. This chapter discusses common ocular disorders. Information within the book concerning the congenital anomalies, functional defects, and pathologic ocular conditions most often found within a deaf student population was obtained from eleven years of research unobtrusively conducted within the NTID Eye and Ear Clinic between August 1984 and May 1995 (at the National Technical Institute for the Deaf, one of the eight colleges of the Rochester Institute of Technology). This chapter deals specifically with those eleven common visual pathologies and aberrant visual conditions most often encountered among the young and more chronologically mature deaf adult students within the NTID college population. The author also hopes to promote an awareness of those vision problems which are also likely to be found in greater numbers within the deaf population in general. Failure to identify and attend to these problems may not only impact on the learning process, but on communication, mobility, recreation, social interaction, and vocational pursuits as well. The conditions covered are rubella oculopathy, strabismus, amblyopia, inherited color vision deficiency, retinitis pigmentosa (Usher syndrome), cataracts or aphakia, nystagmus, microphthalmos, glaucoma, ocular albinism, and ptosis (blepharoptosis). The chapter demonstrates that a large number of deaf people have concomitant visual problems, many of which are noncorrectable or progressive in nature. 43 tables. 130 references.

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CHAPTER 7. PERIODICALS AND NEWS ON ALBINISM Overview In this chapter, we suggest a number of news sources and present various periodicals that cover albinism.

News Services and Press Releases One of the simplest ways of tracking press releases on albinism is to search the news wires. In the following sample of sources, we will briefly describe how to access each service. These services only post recent news intended for public viewing. PR Newswire To access the PR Newswire archive, simply go to http://www.prnewswire.com/. Select your country. Type “albinism” (or synonyms) into the search box. You will automatically receive information on relevant news releases posted within the last 30 days. The search results are shown by order of relevance. Reuters Health The Reuters’ Medical News and Health eLine databases can be very useful in exploring news archives relating to albinism. While some of the listed articles are free to view, others are available for purchase for a nominal fee. To access this archive, go to http://www.reutershealth.com/en/index.html and search by “albinism” (or synonyms). The following was recently listed in this archive for albinism: •

Genetic Mutation Associated With Lung Dysfunction In Rare Albinism Syndrome Source: Reuters Medical News Date: April 30, 1998

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The NIH Within MEDLINEplus, the NIH has made an agreement with the New York Times Syndicate, the AP News Service, and Reuters to deliver news that can be browsed by the public. Search news releases at http://www.nlm.nih.gov/medlineplus/alphanews_a.html. MEDLINEplus allows you to browse across an alphabetical index. Or you can search by date at the following Web page: http://www.nlm.nih.gov/medlineplus/newsbydate.html. Often, news items are indexed by MEDLINEplus within its search engine. Business Wire Business Wire is similar to PR Newswire. To access this archive, simply go to http://www.businesswire.com/. You can scan the news by industry category or company name. Market Wire Market Wire is more focused on technology than the other wires. To browse the latest press releases by topic, such as alternative medicine, biotechnology, fitness, healthcare, legal, nutrition, and pharmaceuticals, access Market Wire’s Medical/Health channel at http://www.marketwire.com/mw/release_index?channel=MedicalHealth. Or simply go to Market Wire’s home page at http://www.marketwire.com/mw/home, type “albinism” (or synonyms) into the search box, and click on “Search News.” As this service is technology oriented, you may wish to use it when searching for press releases covering diagnostic procedures or tests. Search Engines Medical news is also available in the news sections of commercial Internet search engines. See the health news page at Yahoo (http://dir.yahoo.com/Health/News_and_Media/), or you can use this Web site’s general news search page at http://news.yahoo.com/. Type in “albinism” (or synonyms). If you know the name of a company that is relevant to albinism, you can go to any stock trading Web site (such as http://www.etrade.com/) and search for the company name there. News items across various news sources are reported on indicated hyperlinks. Google offers a similar service at http://news.google.com/. BBC Covering news from a more European perspective, the British Broadcasting Corporation (BBC) allows the public free access to their news archive located at http://www.bbc.co.uk/. Search by “albinism” (or synonyms).

Academic Periodicals covering Albinism Numerous periodicals are currently indexed within the National Library of Medicine’s PubMed database that are known to publish articles relating to albinism. In addition to these

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sources, you can search for articles covering albinism that have been published by any of the periodicals listed in previous chapters. To find the latest studies published, go to http://www.ncbi.nlm.nih.gov/pubmed, type the name of the periodical into the search box, and click “Go.” If you want complete details about the historical contents of a journal, you can also visit the following Web site: http://www.ncbi.nlm.nih.gov/entrez/jrbrowser.cgi. Here, type in the name of the journal or its abbreviation, and you will receive an index of published articles. At http://locatorplus.gov/, you can retrieve more indexing information on medical periodicals (e.g. the name of the publisher). Select the button “Search LOCATORplus.” Then type in the name of the journal and select the advanced search option “Journal Title Search.”

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APPENDICES

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APPENDIX A. PHYSICIAN RESOURCES Overview In this chapter, we focus on databases and Internet-based guidelines and information resources created or written for a professional audience.

NIH Guidelines Commonly referred to as “clinical” or “professional” guidelines, the National Institutes of Health publish physician guidelines for the most common diseases. Publications are available at the following by relevant Institute10: •

Office of the Director (OD); guidelines consolidated across agencies available at http://www.nih.gov/health/consumer/conkey.htm

•

National Institute of General Medical Sciences (NIGMS); fact sheets available at http://www.nigms.nih.gov/news/facts/

•

National Library of Medicine (NLM); extensive encyclopedia (A.D.A.M., Inc.) with guidelines: http://www.nlm.nih.gov/medlineplus/healthtopics.html

•

National Cancer Institute (NCI); guidelines available at http://www.cancer.gov/cancerinfo/list.aspx?viewid=5f35036e-5497-4d86-8c2c714a9f7c8d25

•

National Eye Institute (NEI); guidelines available at http://www.nei.nih.gov/order/index.htm

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National Heart, Lung, and Blood Institute (NHLBI); guidelines available at http://www.nhlbi.nih.gov/guidelines/index.htm

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National Human Genome Research Institute (NHGRI); research available at http://www.genome.gov/page.cfm?pageID=10000375

•

National Institute on Aging (NIA); guidelines available at http://www.nia.nih.gov/health/

10

These publications are typically written by one or more of the various NIH Institutes.

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National Institute on Alcohol Abuse and Alcoholism (NIAAA); guidelines available at http://www.niaaa.nih.gov/publications/publications.htm

•

National Institute of Allergy and Infectious Diseases (NIAID); guidelines available at http://www.niaid.nih.gov/publications/

•

National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS); fact sheets and guidelines available at http://www.niams.nih.gov/hi/index.htm

•

National Institute of Child Health and Human Development (NICHD); guidelines available at http://www.nichd.nih.gov/publications/pubskey.cfm

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National Institute on Deafness and Other Communication Disorders (NIDCD); fact sheets and guidelines at http://www.nidcd.nih.gov/health/

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National Institute of Dental and Craniofacial Research (NIDCR); guidelines available at http://www.nidr.nih.gov/health/

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National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); guidelines available at http://www.niddk.nih.gov/health/health.htm

•

National Institute on Drug Abuse (NIDA); guidelines available at http://www.nida.nih.gov/DrugAbuse.html

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National Institute of Environmental Health Sciences (NIEHS); environmental health information available at http://www.niehs.nih.gov/external/facts.htm

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National Institute of Mental Health (NIMH); guidelines available at http://www.nimh.nih.gov/practitioners/index.cfm

•

National Institute of Neurological Disorders and Stroke (NINDS); neurological disorder information pages available at http://www.ninds.nih.gov/health_and_medical/disorder_index.htm

•

National Institute of Nursing Research (NINR); publications on selected illnesses at http://www.nih.gov/ninr/news-info/publications.html

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National Institute of Biomedical Imaging and Bioengineering; general information at http://grants.nih.gov/grants/becon/becon_info.htm

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Center for Information Technology (CIT); referrals to other agencies based on keyword searches available at http://kb.nih.gov/www_query_main.asp

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National Center for Complementary and Alternative Medicine (NCCAM); health information available at http://nccam.nih.gov/health/

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National Center for Research Resources (NCRR); various information directories available at http://www.ncrr.nih.gov/publications.asp

•

Office of Rare Diseases; various fact sheets available at http://rarediseases.info.nih.gov/html/resources/rep_pubs.html

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Centers for Disease Control and Prevention; various fact sheets on infectious diseases available at http://www.cdc.gov/publications.htm

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NIH Databases In addition to the various Institutes of Health that publish professional guidelines, the NIH has designed a number of databases for professionals.11 Physician-oriented resources provide a wide variety of information related to the biomedical and health sciences, both past and present. The format of these resources varies. Searchable databases, bibliographic citations, full-text articles (when available), archival collections, and images are all available. The following are referenced by the National Library of Medicine:12 •

Bioethics: Access to published literature on the ethical, legal, and public policy issues surrounding healthcare and biomedical research. This information is provided in conjunction with the Kennedy Institute of Ethics located at Georgetown University, Washington, D.C.: http://www.nlm.nih.gov/databases/databases_bioethics.html

•

HIV/AIDS Resources: Describes various links and databases dedicated to HIV/AIDS research: http://www.nlm.nih.gov/pubs/factsheets/aidsinfs.html

•

NLM Online Exhibitions: Describes “Exhibitions in the History of Medicine”: http://www.nlm.nih.gov/exhibition/exhibition.html. Additional resources for historical scholarship in medicine: http://www.nlm.nih.gov/hmd/hmd.html

•

Biotechnology Information: Access to public databases. The National Center for Biotechnology Information conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information for the better understanding of molecular processes affecting human health and disease: http://www.ncbi.nlm.nih.gov/

•

Population Information: The National Library of Medicine provides access to worldwide coverage of population, family planning, and related health issues, including family planning technology and programs, fertility, and population law and policy: http://www.nlm.nih.gov/databases/databases_population.html

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Cancer Information: Access to cancer-oriented databases: http://www.nlm.nih.gov/databases/databases_cancer.html

•

Profiles in Science: Offering the archival collections of prominent twentieth-century biomedical scientists to the public through modern digital technology: http://www.profiles.nlm.nih.gov/

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Chemical Information: Provides links to various chemical databases and references: http://sis.nlm.nih.gov/Chem/ChemMain.html

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Clinical Alerts: Reports the release of findings from the NIH-funded clinical trials where such release could significantly affect morbidity and mortality: http://www.nlm.nih.gov/databases/alerts/clinical_alerts.html

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Space Life Sciences: Provides links and information to space-based research (including NASA): http://www.nlm.nih.gov/databases/databases_space.html

•

MEDLINE: Bibliographic database covering the fields of medicine, nursing, dentistry, veterinary medicine, the healthcare system, and the pre-clinical sciences: http://www.nlm.nih.gov/databases/databases_medline.html

11

Remember, for the general public, the National Library of Medicine recommends the databases referenced in MEDLINEplus (http://medlineplus.gov/ or http://www.nlm.nih.gov/medlineplus/databases.html). 12 See http://www.nlm.nih.gov/databases/databases.html.

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•

Toxicology and Environmental Health Information (TOXNET): Databases covering toxicology and environmental health: http://sis.nlm.nih.gov/Tox/ToxMain.html

•

Visible Human Interface: Anatomically detailed, three-dimensional representations of normal male and female human bodies: http://www.nlm.nih.gov/research/visible/visible_human.html

• • The NLM Gateway13 The NLM (National Library of Medicine) Gateway is a Web-based system that lets users search simultaneously in multiple retrieval systems at the U.S. National Library of Medicine (NLM). It allows users of NLM services to initiate searches from one Web interface, providing one-stop searching for many of NLM’s information resources or databases.14 To use the NLM Gateway, simply go to the search site at http://gateway.nlm.nih.gov/gw/Cmd. Type “albinism” (or synonyms) into the search box and click “Search.” The results will be presented in a tabular form, indicating the number of references in each database category. Results Summary Category Journal Articles Books / Periodicals / Audio Visual Consumer Health Meeting Abstracts Other Collections Total

Items Found 2294 19 11 1 0 2325

HSTAT15 HSTAT is a free, Web-based resource that provides access to full-text documents used in healthcare decision-making.16 These documents include clinical practice guidelines, quickreference guides for clinicians, consumer health brochures, evidence reports and technology assessments from the Agency for Healthcare Research and Quality (AHRQ), as well as AHRQ’s Put Prevention Into Practice.17 Simply search by “albinism” (or synonyms) at the following Web site: http://text.nlm.nih.gov.

13

Adapted from NLM: http://gateway.nlm.nih.gov/gw/Cmd?Overview.x.

14

The NLM Gateway is currently being developed by the Lister Hill National Center for Biomedical Communications (LHNCBC) at the National Library of Medicine (NLM) of the National Institutes of Health (NIH). 15 Adapted from HSTAT: http://www.nlm.nih.gov/pubs/factsheets/hstat.html. 16 17

The HSTAT URL is http://hstat.nlm.nih.gov/.

Other important documents in HSTAT include: the National Institutes of Health (NIH) Consensus Conference Reports and Technology Assessment Reports; the HIV/AIDS Treatment Information Service (ATIS) resource documents; the Substance Abuse and Mental Health Services Administration's Center for Substance Abuse Treatment (SAMHSA/CSAT) Treatment Improvement Protocols (TIP) and Center for Substance Abuse Prevention (SAMHSA/CSAP) Prevention Enhancement Protocols System (PEPS); the Public Health Service (PHS) Preventive Services Task Force's Guide to Clinical Preventive Services; the independent, nonfederal Task Force on Community Services’ Guide to Community Preventive Services; and the Health Technology Advisory Committee (HTAC) of the Minnesota Health Care Commission (MHCC) health technology evaluations.

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Coffee Break: Tutorials for Biologists18 Coffee Break is a general healthcare site that takes a scientific view of the news and covers recent breakthroughs in biology that may one day assist physicians in developing treatments. Here you will find a collection of short reports on recent biological discoveries. Each report incorporates interactive tutorials that demonstrate how bioinformatics tools are used as a part of the research process. Currently, all Coffee Breaks are written by NCBI staff.19 Each report is about 400 words and is usually based on a discovery reported in one or more articles from recently published, peer-reviewed literature.20 This site has new articles every few weeks, so it can be considered an online magazine of sorts. It is intended for general background information. You can access the Coffee Break Web site at the following hyperlink: http://www.ncbi.nlm.nih.gov/Coffeebreak/.

Other Commercial Databases In addition to resources maintained by official agencies, other databases exist that are commercial ventures addressing medical professionals. Here are some examples that may interest you: •

CliniWeb International: Index and table of contents to selected clinical information on the Internet; see http://www.ohsu.edu/cliniweb/.

•

Medical World Search: Searches full text from thousands of selected medical sites on the Internet; see http://www.mwsearch.com/.

The Genome Project and Albinism In the following section, we will discuss databases and references which relate to the Genome Project and albinism. Online Mendelian Inheritance in Man (OMIM) The Online Mendelian Inheritance in Man (OMIM) database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor A. McKusick and his colleagues at Johns Hopkins and elsewhere. OMIM was developed for the World Wide Web by the National Center for Biotechnology Information (NCBI).21 The database contains textual information, pictures, and reference information. It also contains copious links to NCBI’s Entrez database of MEDLINE articles and sequence information.

18 Adapted 19

from http://www.ncbi.nlm.nih.gov/Coffeebreak/Archive/FAQ.html.

The figure that accompanies each article is frequently supplied by an expert external to NCBI, in which case the source of the figure is cited. The result is an interactive tutorial that tells a biological story. 20 After a brief introduction that sets the work described into a broader context, the report focuses on how a molecular understanding can provide explanations of observed biology and lead to therapies for diseases. Each vignette is accompanied by a figure and hypertext links that lead to a series of pages that interactively show how NCBI tools and resources are used in the research process. 21 Adapted from http://www.ncbi.nlm.nih.gov/. Established in 1988 as a national resource for molecular biology information, NCBI creates public databases, conducts research in computational biology, develops software tools for analyzing genome data, and disseminates biomedical information--all for the better understanding of molecular processes affecting human health and disease.

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To search the database, go to http://www.ncbi.nlm.nih.gov/Omim/searchomim.html. Type “albinism” (or synonyms) into the search box, and click “Submit Search.” If too many results appear, you can narrow the search by adding the word “clinical.” Each report will have additional links to related research and databases. In particular, the option “Database Links” will search across technical databases that offer an abundance of information. The following is an example of the results you can obtain from the OMIM for albinism: •

Albinism with Immune and Hematologic Defects Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203285

•

Albinism, Minimal Pigment Type Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203280

•

Albinism, Ocular, Autosomal Recessive Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203310

•

Albinism, Ocular, Type I Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300500

•

Albinism, Ocular, Type Ii Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300600

•

Albinism, Ocular, with Late-onset Sensorineural Deafness Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300650

•

Albinism, Ocular, with Sensorineural Deafness Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?103470

•

Albinism, Oculocutaneous, Type Ib Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606952

•

Albinism-deafness Syndrome Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?300700

•

Albinism-microcephaly-digital Anomalies Syndrome Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203340

•

Deafness, Congenital, with Total Albinism Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?220900

•

Immunodeficiency with Cleft Lip/palate, Cataract, Hypopigmentation, and Absent Corpus Callosum Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?242840

•

Oculocutaneous Albinism, Type I Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203100

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Oculocutaneous Albinism, Type Ii Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203200

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Oculocutaneous Albinism, Type Iii Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?203290

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Oculocutaneous Albinism, Type Iv Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?606574

•

Osteoporosis and Oculocutaneous Hypopigmentation Syndrome; Ooch Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601220

•

Partial Albinism and Immunodeficiency Syndrome Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?604228

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Rufous Oculocutaneous Albinism Web site: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?278400 Genes and Disease (NCBI - Map)

The Genes and Disease database is produced by the National Center for Biotechnology Information of the National Library of Medicine at the National Institutes of Health. This Web site categorizes each disorder by system of the body. Go to http://www.ncbi.nlm.nih.gov/disease/, and browse the system pages to have a full view of important conditions linked to human genes. Since this site is regularly updated, you may wish to revisit it from time to time. The following systems and associated disorders are addressed: •

Cancer: Uncontrolled cell division. Examples: Breast and ovarian cancer, Burkitt lymphoma, chronic myeloid leukemia, colon cancer, lung cancer, malignant melanoma, multiple endocrine neoplasia, neurofibromatosis, p53 tumor suppressor, pancreatic cancer, prostate cancer, Ras oncogene, RB: retinoblastoma, von Hippel-Lindau syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Cancer.html

•

Immune System: Fights invaders. Examples: Asthma, autoimmune polyglandular syndrome, Crohn’s disease, DiGeorge syndrome, familial Mediterranean fever, immunodeficiency with Hyper-IgM, severe combined immunodeficiency. Web site: http://www.ncbi.nlm.nih.gov/disease/Immune.html

•

Metabolism: Food and energy. Examples: Adreno-leukodystrophy, atherosclerosis, Best disease, Gaucher disease, glucose galactose malabsorption, gyrate atrophy, juvenile-onset diabetes, obesity, paroxysmal nocturnal hemoglobinuria, phenylketonuria, Refsum disease, Tangier disease, Tay-Sachs disease. Web site: http://www.ncbi.nlm.nih.gov/disease/Metabolism.html

•

Muscle and Bone: Movement and growth. Examples: Duchenne muscular dystrophy, Ellis-van Creveld syndrome, Marfan syndrome, myotonic dystrophy, spinal muscular atrophy. Web site: http://www.ncbi.nlm.nih.gov/disease/Muscle.html

•

Nervous System: Mind and body. Examples: Alzheimer disease, amyotrophic lateral sclerosis, Angelman syndrome, Charcot-Marie-Tooth disease, epilepsy, essential tremor, fragile X syndrome, Friedreich’s ataxia, Huntington disease, Niemann-Pick disease, Parkinson disease, Prader-Willi syndrome, Rett syndrome, spinocerebellar atrophy, Williams syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Brain.html

•

Signals: Cellular messages. Examples: Ataxia telangiectasia, Cockayne syndrome, glaucoma, male-patterned baldness, SRY: sex determination, tuberous sclerosis, Waardenburg syndrome, Werner syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Signals.html

•

Transporters: Pumps and channels. Examples: Cystic fibrosis, deafness, diastrophic dysplasia, Hemophilia A, long-QT syndrome, Menkes syndrome, Pendred syndrome, polycystic kidney disease, sickle cell

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anemia, Wilson’s disease, Zellweger syndrome. Web site: http://www.ncbi.nlm.nih.gov/disease/Transporters.html Entrez Entrez is a search and retrieval system that integrates several linked databases at the National Center for Biotechnology Information (NCBI). These databases include nucleotide sequences, protein sequences, macromolecular structures, whole genomes, and MEDLINE through PubMed. Entrez provides access to the following databases: •

3D Domains: Domains from Entrez Structure, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Books: Online books, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=books

•

Genome: Complete genome assemblies, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Genome

•

NCBI’s Protein Sequence Information Survey Results: Web site: http://www.ncbi.nlm.nih.gov/About/proteinsurvey/

•

Nucleotide Sequence Database (Genbank): Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Nucleotide

•

OMIM: Online Mendelian Inheritance in Man, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM

•

PopSet: Population study data sets, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Popset

•

ProbeSet: Gene Expression Omnibus (GEO), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=geo

•

Protein Sequence Database: Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Protein

•

PubMed: Biomedical literature (PubMed), Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed

•

Structure: Three-dimensional macromolecular structures, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Structure

•

Taxonomy: Organisms in GenBank, Web site: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=Taxonomy

To access the Entrez system at the National Center for Biotechnology Information, go to http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?CMD=search&DB=genome, and then select the database that you would like to search. The databases available are listed in the drop box next to “Search.” Enter “albinism” (or synonyms) into the search box and click “Go.”

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Jablonski’s Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Database22 This online resource has been developed to facilitate the identification and differentiation of syndromic entities. Special attention is given to the type of information that is usually limited or completely omitted in existing reference sources due to space limitations of the printed form. At http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_a.html, you can search across syndromes using an alphabetical index. Search by keywords at http://www.nlm.nih.gov/mesh/jablonski/syndrome_db.html. The Genome Database23 Established at Johns Hopkins University in Baltimore, Maryland in 1990, the Genome Database (GDB) is the official central repository for genomic mapping data resulting from the Human Genome Initiative. In the spring of 1999, the Bioinformatics Supercomputing Centre (BiSC) at the Hospital for Sick Children in Toronto, Ontario assumed the management of GDB. The Human Genome Initiative is a worldwide research effort focusing on structural analysis of human DNA to determine the location and sequence of the estimated 100,000 human genes. In support of this project, GDB stores and curates data generated by researchers worldwide who are engaged in the mapping effort of the Human Genome Project (HGP). GDB’s mission is to provide scientists with an encyclopedia of the human genome which is continually revised and updated to reflect the current state of scientific knowledge. Although GDB has historically focused on gene mapping, its focus will broaden as the Genome Project moves from mapping to sequence, and finally, to functional analysis. To access the GDB, simply go to the following hyperlink: http://www.gdb.org/. Search “All Biological Data” by “Keyword.” Type “albinism” (or synonyms) into the search box, and review the results. If more than one word is used in the search box, then separate each one with the word “and” or “or” (using “or” might be useful when using synonyms).

22 Adapted from the National Library of Medicine: http://www.nlm.nih.gov/mesh/jablonski/about_syndrome.html. 23 Adapted from the Genome Database: http://gdbwww.gdb.org/gdb/aboutGDB.html - mission.

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APPENDIX B. PATIENT RESOURCES Overview Official agencies, as well as federally funded institutions supported by national grants, frequently publish a variety of guidelines written with the patient in mind. These are typically called “Fact Sheets” or “Guidelines.” They can take the form of a brochure, information kit, pamphlet, or flyer. Often they are only a few pages in length. Since new guidelines on albinism can appear at any moment and be published by a number of sources, the best approach to finding guidelines is to systematically scan the Internet-based services that post them.

Patient Guideline Sources The remainder of this chapter directs you to sources which either publish or can help you find additional guidelines on topics related to albinism. Due to space limitations, these sources are listed in a concise manner. Do not hesitate to consult the following sources by either using the Internet hyperlink provided, or, in cases where the contact information is provided, contacting the publisher or author directly. The National Institutes of Health The NIH gateway to patients is located at http://health.nih.gov/. From this site, you can search across various sources and institutes, a number of which are summarized below. Topic Pages: MEDLINEplus The National Library of Medicine has created a vast and patient-oriented healthcare information portal called MEDLINEplus. Within this Internet-based system are “health topic pages” which list links to available materials relevant to albinism. To access this system, log on to http://www.nlm.nih.gov/medlineplus/healthtopics.html. From there you can either search using the alphabetical index or browse by broad topic areas. Recently, MEDLINEplus listed the following when searched for “albinism”:

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•

Other guides Head and Brain Malformations http://www.nlm.nih.gov/medlineplus/headandbrainmalformations.html Heart Diseases http://www.nlm.nih.gov/medlineplus/heartdiseases.html Multiple Myeloma http://www.nlm.nih.gov/medlineplus/multiplemyeloma.html Multiple Myeloma http://www.nlm.nih.gov/medlineplus/tutorials/multiplemyelomaloader.html Multiple Sclerosis http://www.nlm.nih.gov/medlineplus/multiplesclerosis.html Multiple Sclerosis http://www.nlm.nih.gov/medlineplus/tutorials/multiplesclerosisloader.html Parkinson's Disease http://www.nlm.nih.gov/medlineplus/parkinsonsdisease.html Pulmonary Fibrosis http://www.nlm.nih.gov/medlineplus/pulmonaryfibrosis.html Skin Diseases http://www.nlm.nih.gov/medlineplus/skindiseases.html Skin Pigmentation Disorders http://www.nlm.nih.gov/medlineplus/skinpigmentationdisorders.html Tuberous Sclerosis http://www.nlm.nih.gov/medlineplus/tuberoussclerosis.html

You may also choose to use the search utility provided by MEDLINEplus at the following Web address: http://www.nlm.nih.gov/medlineplus/. Simply type a keyword into the search box and click “Search.” This utility is similar to the NIH search utility, with the exception that it only includes materials that are linked within the MEDLINEplus system (mostly patient-oriented information). It also has the disadvantage of generating unstructured results. We recommend, therefore, that you use this method only if you have a very targeted search. The Combined Health Information Database (CHID) CHID Online is a reference tool that maintains a database directory of thousands of journal articles and patient education guidelines on albinism. CHID offers summaries that describe the guidelines available, including contact information and pricing. CHID’s general Web site is http://chid.nih.gov/. To search this database, go to http://chid.nih.gov/detail/detail.html. In particular, you can use the advanced search options to look up pamphlets, reports, brochures, and information kits. The following was recently posted in this archive: •

Information About Albinism: What Is Albinism? Source: Philadelphia, PA: National Organization for Albinism and Hypopigmentation (NOAH). 199x. 4 p.

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Contact: National Organization for Albinism and Hypopigmentation. 1530 Locust Street, Number 29, Philadelphia, PA 19102-4415. (800) 473-2310 or (215) 545-2322. E-mail: [email protected]. Website: www.albinism.org. PRICE: Single copy free; donation or membership requested. Summary: This fact sheet provides information about albinism to people who have the condition. Albinism is a group of inherited disorders in which the usual amounts of a pigment called melanin are not made; it affects people of all races. People who have albinism always have problems with vision, which result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. There are various types of albinism, including oculocutaneous albinism, which involves the eyes, hair, and skin, and ocular albinism, which involves primarily the eyes. The classification system for oculocutaneous albinism is outlined. DNA analysis has been used to classify this type of albinism as either type 1, which involves having almost no pigmentation, or type 2, which involves having slight pigmentation. Other topics include the genetics of albinism, the medical problems faced by people who have albinism, and vision rehabilitation. Methods of correcting eye problems are surgery and the use of sunglasses, tinted contacts, and various optical aids. In addition, the fact sheet provides sources of information about albinism. •

Information About Albinism: Albinism and Driving Source: Philadelphia, PA: National Organization for Albinism and Hypopigmentation (NOAH). 199x. 4 p. Contact: National Organization for Albinism and Hypopigmentation. 1530 Locust Street, Number 29, Philadelphia, PA 19102-4415. (800) 473-2310 or (215) 545-2322. E-mail: [email protected]. Website: www.albinism.org. PRICE: Single copy free; donation or membership requested. Summary: This fact sheet provides people who have albinism with information about the minimum visual acuity needed for safe driving and the use of bioptic telescopes to help them make decisions about driving. The visual acuity standards used in the United States for driving without restrictions ranges from 20/30 to 20/70, and some states will accept a visual acuity of 20/100 with corrective lenses for a restricted driver's license. All drivers with low vision must have a strong sense of responsibility and a willingness to voluntarily exercise good judgment by deciding not to drive in unsafe situations. Restrictions imposed on a driver's license may limit the person to a geographic area or to particular routines and may limit driving to certain hours of the day. Some type of magnification device, such as a bioptic telescope, may be needed to increase corrected visual acuity. However, the use of bioptic telescopes is still not legal in some states. The fact sheet addresses safety issues, lists ways drivers who have albinism can compensate for their low vision, identifies unique driving challenges facing drivers who have albinism, discusses the use of the bioptic telescope as a vision aid, and outlines the pros and cons about using bioptics. In addition, the fact sheet identifies a source of information about driver training.

•

Information About Albinism: Assisting Students With Albinism Source: Philadelphia, PA: National Organization for Albinism and Hypopigmentation (NOAH). 199x. 4 p. Contact: National Organization for Albinism and Hypopigmentation. 1530 Locust Street, Number 29, Philadelphia, PA 19102-4415. (800) 473-2310 or (215) 545-2322. E-mail:

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[email protected]. Website: www.albinism.org. PRICE: Single copy free; donation or membership requested. Summary: This fact sheet provides school personnel and parents with information on assisting students with albinism. The least restrictive environment for children who have albinism is the mainstream classroom, in which a vision resource teacher can find ways to allow students to participate in classroom activities. The student, classroom teacher, and vision teacher should discuss classroom seating. Issues to consider include putting the child in the front row, and seating the child to minimize glare from the side windows and overhead lights and to avoid shadow. Other issues to be addressed include determining whether the student will need large-print books and materials, using nonoptical aids to vision such as computers and closed circuit television, and using optical aids such as stand or hand-held magnifiers and special reading glasses. In addition, school personnel need to find ways to include students with low vision in physical education activities and to provide social support to students who have albinism. Although most children who have albinism will be able to succeed in a mainstream setting, some children may do better in a half-day resource room with other visually impaired children or may require education outside the mainstream classroom. The fact sheet also provides parents with information about the Individual Education Plan. Healthfinder™ Healthfinder™ is sponsored by the U.S. Department of Health and Human Services and offers links to hundreds of other sites that contain healthcare information. This Web site is located at http://www.healthfinder.gov. Again, keyword searches can be used to find guidelines. The following was recently found in this database: •

Facts About Albinism Summary: Basic consumer health information about albinism and the health problems associated with this genetic disorder. Source: Educational Institution--Follow the Resource URL for More Information http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=4327

•

International Albinism Center Web Site Summary: Web site is maintained by a team of research professionals interested in understanding the basis of albinism in humans. Source: Educational Institution--Follow the Resource URL for More Information http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=4326

•

Publications: National Organization for Albinism and Hypopigmentation Summary: These are publications in both English and Espanol about albinism and hypopigmentation. Source: National Organization for Albinism and Hypopigmentation http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=7667

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What is Albinism? Summary: Online consumer health information document provides basic information about this genetic disorder for which researchers have defined fifteen different types. Source: National Organization for Albinism and Hypopigmentation http://www.healthfinder.gov/scripts/recordpass.asp?RecordType=0&RecordID=2273 The NIH Search Utility

The NIH search utility allows you to search for documents on over 100 selected Web sites that comprise the NIH-WEB-SPACE. Each of these servers is “crawled” and indexed on an ongoing basis. Your search will produce a list of various documents, all of which will relate in some way to albinism. The drawbacks of this approach are that the information is not organized by theme and that the references are often a mix of information for professionals and patients. Nevertheless, a large number of the listed Web sites provide useful background information. We can only recommend this route, therefore, for relatively rare or specific disorders, or when using highly targeted searches. To use the NIH search utility, visit the following Web page: http://search.nih.gov/index.html. NORD (The National Organization of Rare Disorders, Inc.) NORD provides an invaluable service to the public by publishing short yet comprehensive guidelines on over 1,000 diseases. NORD primarily focuses on rare diseases that might not be covered by the previously listed sources. NORD’s Web address is http://www.rarediseases.org/. A complete guide on albinism can be purchased from NORD for a nominal fee. Additional Web Sources A number of Web sites are available to the public that often link to government sites. These can also point you in the direction of essential information. The following is a representative sample: •

AOL: http://search.aol.com/cat.adp?id=168&layer=&from=subcats

•

Family Village: http://www.familyvillage.wisc.edu/specific.htm

•

Google: http://directory.google.com/Top/Health/Conditions_and_Diseases/

•

Med Help International: http://www.medhelp.org/HealthTopics/A.html

•

Open Directory Project: http://dmoz.org/Health/Conditions_and_Diseases/

•

Yahoo.com: http://dir.yahoo.com/Health/Diseases_and_Conditions/

•

WebMDHealth: http://my.webmd.com/health_topics

Associations and Albinism The following is a list of associations that provide information on and resources relating to albinism:

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•

National Organization for Albinism and Hypopigmentation Telephone: (603) 887-2310 Toll-free: (800) 473-2310 Fax: (603) 887-6049 Email: [email protected] Web Site: http://www.albinism.org Background: The National Organization for Albinism and Hypopigmentation (NOAH) is a national voluntary not-for-profit organization for people with albinism, their families, and professionals who work with them. Established in 1982, NOAH provides a network of local chapters and contact persons; offers information, support, and appropriate referrals; and promotes public and professional education. The organization also provides networking for those with special interests related to albinism and promotes and supports research and funding that will improve diagnosis and management of albinism and hypopigmentation. Through participating in the Albinism World Alliance, NOAH networks with support groups for people with albinism in other countries and promotes development of albinism support groups throughout the world. NOAH also sponsors workshops, conferences, and outreach programs and offers a variety of educational materials including a regular newsletter, information bulletins, brochures, and information packets for libraries. Relevant area(s) of interest: Albinism

Finding Associations There are several Internet directories that provide lists of medical associations with information on or resources relating to albinism. By consulting all of associations listed in this chapter, you will have nearly exhausted all sources for patient associations concerned with albinism. The National Health Information Center (NHIC) The National Health Information Center (NHIC) offers a free referral service to help people find organizations that provide information about albinism. For more information, see the NHIC’s Web site at http://www.health.gov/NHIC/ or contact an information specialist by calling 1-800-336-4797. Directory of Health Organizations The Directory of Health Organizations, provided by the National Library of Medicine Specialized Information Services, is a comprehensive source of information on associations. The Directory of Health Organizations database can be accessed via the Internet at http://www.sis.nlm.nih.gov/Dir/DirMain.html. It is composed of two parts: DIRLINE and Health Hotlines. The DIRLINE database comprises some 10,000 records of organizations, research centers, and government institutes and associations that primarily focus on health and biomedicine. To access DIRLINE directly, go to the following Web site: http://dirline.nlm.nih.gov/. Simply type in “albinism” (or a synonym), and you will receive information on all relevant organizations listed in the database.

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Health Hotlines directs you to toll-free numbers to over 300 organizations. You can access this database directly at http://www.sis.nlm.nih.gov/hotlines/. On this page, you are given the option to search by keyword or by browsing the subject list. When you have received your search results, click on the name of the organization for its description and contact information. The Combined Health Information Database Another comprehensive source of information on healthcare associations is the Combined Health Information Database. Using the “Detailed Search” option, you will need to limit your search to “Organizations” and “albinism”. Type the following hyperlink into your Web browser: http://chid.nih.gov/detail/detail.html. To find associations, use the drop boxes at the bottom of the search page where “You may refine your search by.” For publication date, select “All Years.” Then, select your preferred language and the format option “Organization Resource Sheet.” Type “albinism” (or synonyms) into the “For these words:” box. You should check back periodically with this database since it is updated every three months. The National Organization for Rare Disorders, Inc. The National Organization for Rare Disorders, Inc. has prepared a Web site that provides, at no charge, lists of associations organized by health topic. You can access this database at the following Web site: http://www.rarediseases.org/search/orgsearch.html. Type “albinism” (or a synonym) into the search box, and click “Submit Query.”

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APPENDIX C. FINDING MEDICAL LIBRARIES Overview In this Appendix, we show you how to quickly find a medical library in your area.

Preparation Your local public library and medical libraries have interlibrary loan programs with the National Library of Medicine (NLM), one of the largest medical collections in the world. According to the NLM, most of the literature in the general and historical collections of the National Library of Medicine is available on interlibrary loan to any library. If you would like to access NLM medical literature, then visit a library in your area that can request the publications for you.24

Finding a Local Medical Library The quickest method to locate medical libraries is to use the Internet-based directory published by the National Network of Libraries of Medicine (NN/LM). This network includes 4626 members and affiliates that provide many services to librarians, health professionals, and the public. To find a library in your area, simply visit http://nnlm.gov/members/adv.html or call 1-800-338-7657.

Medical Libraries in the U.S. and Canada In addition to the NN/LM, the National Library of Medicine (NLM) lists a number of libraries with reference facilities that are open to the public. The following is the NLM’s list and includes hyperlinks to each library’s Web site. These Web pages can provide information on hours of operation and other restrictions. The list below is a small sample of

24

Adapted from the NLM: http://www.nlm.nih.gov/psd/cas/interlibrary.html.

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libraries recommended by the National Library of Medicine (sorted alphabetically by name of the U.S. state or Canadian province where the library is located)25: •

Alabama: Health InfoNet of Jefferson County (Jefferson County Library Cooperative, Lister Hill Library of the Health Sciences), http://www.uab.edu/infonet/

•

Alabama: Richard M. Scrushy Library (American Sports Medicine Institute)

•

Arizona: Samaritan Regional Medical Center: The Learning Center (Samaritan Health System, Phoenix, Arizona), http://www.samaritan.edu/library/bannerlibs.htm

•

California: Kris Kelly Health Information Center (St. Joseph Health System, Humboldt), http://www.humboldt1.com/~kkhic/index.html

•

California: Community Health Library of Los Gatos, http://www.healthlib.org/orgresources.html

•

California: Consumer Health Program and Services (CHIPS) (County of Los Angeles Public Library, Los Angeles County Harbor-UCLA Medical Center Library) - Carson, CA, http://www.colapublib.org/services/chips.html

•

California: Gateway Health Library (Sutter Gould Medical Foundation)

•

California: Health Library (Stanford University Medical Center), http://wwwmed.stanford.edu/healthlibrary/

•

California: Patient Education Resource Center - Health Information and Resources (University of California, San Francisco), http://sfghdean.ucsf.edu/barnett/PERC/default.asp

•

California: Redwood Health Library (Petaluma Health Care District), http://www.phcd.org/rdwdlib.html

•

California: Los Gatos PlaneTree Health Library, http://planetreesanjose.org/

•

California: Sutter Resource Library (Sutter Hospitals Foundation, Sacramento), http://suttermedicalcenter.org/library/

•

California: Health Sciences Libraries (University of California, Davis), http://www.lib.ucdavis.edu/healthsci/

•

California: ValleyCare Health Library & Ryan Comer Cancer Resource Center (ValleyCare Health System, Pleasanton), http://gaelnet.stmarysca.edu/other.libs/gbal/east/vchl.html

•

California: Washington Community Health Resource Library (Fremont), http://www.healthlibrary.org/

•

Colorado: William V. Gervasini Memorial Library (Exempla Healthcare), http://www.saintjosephdenver.org/yourhealth/libraries/

•

Connecticut: Hartford Hospital Health Science Libraries (Hartford Hospital), http://www.harthosp.org/library/

•

Connecticut: Healthnet: Connecticut Consumer Health Information Center (University of Connecticut Health Center, Lyman Maynard Stowe Library), http://library.uchc.edu/departm/hnet/

25

Abstracted from http://www.nlm.nih.gov/medlineplus/libraries.html.

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•

Connecticut: Waterbury Hospital Health Center Library (Waterbury Hospital, Waterbury), http://www.waterburyhospital.com/library/consumer.shtml

•

Delaware: Consumer Health Library (Christiana Care Health System, Eugene du Pont Preventive Medicine & Rehabilitation Institute, Wilmington), http://www.christianacare.org/health_guide/health_guide_pmri_health_info.cfm

•

Delaware: Lewis B. Flinn Library (Delaware Academy of Medicine, Wilmington), http://www.delamed.org/chls.html

•

Georgia: Family Resource Library (Medical College of Georgia, Augusta), http://cmc.mcg.edu/kids_families/fam_resources/fam_res_lib/frl.htm

•

Georgia: Health Resource Center (Medical Center of Central Georgia, Macon), http://www.mccg.org/hrc/hrchome.asp

•

Hawaii: Hawaii Medical Library: Consumer Health Information Service (Hawaii Medical Library, Honolulu), http://hml.org/CHIS/

•

Idaho: DeArmond Consumer Health Library (Kootenai Medical Center, Coeur d’Alene), http://www.nicon.org/DeArmond/index.htm

•

Illinois: Health Learning Center of Northwestern Memorial Hospital (Chicago), http://www.nmh.org/health_info/hlc.html

•

Illinois: Medical Library (OSF Saint Francis Medical Center, Peoria), http://www.osfsaintfrancis.org/general/library/

•

Kentucky: Medical Library - Services for Patients, Families, Students & the Public (Central Baptist Hospital, Lexington), http://www.centralbap.com/education/community/library.cfm

•

Kentucky: University of Kentucky - Health Information Library (Chandler Medical Center, Lexington), http://www.mc.uky.edu/PatientEd/

•

Louisiana: Alton Ochsner Medical Foundation Library (Alton Ochsner Medical Foundation, New Orleans), http://www.ochsner.org/library/

•

Louisiana: Louisiana State University Health Sciences Center Medical LibraryShreveport, http://lib-sh.lsuhsc.edu/

•

Maine: Franklin Memorial Hospital Medical Library (Franklin Memorial Hospital, Farmington), http://www.fchn.org/fmh/lib.htm

•

Maine: Gerrish-True Health Sciences Library (Central Maine Medical Center, Lewiston), http://www.cmmc.org/library/library.html

•

Maine: Hadley Parrot Health Science Library (Eastern Maine Healthcare, Bangor), http://www.emh.org/hll/hpl/guide.htm

•

Maine: Maine Medical Center Library (Maine Medical Center, Portland), http://www.mmc.org/library/

•

Maine: Parkview Hospital (Brunswick), http://www.parkviewhospital.org/

•

Maine: Southern Maine Medical Center Health Sciences Library (Southern Maine Medical Center, Biddeford), http://www.smmc.org/services/service.php3?choice=10

•

Maine: Stephens Memorial Hospital’s Health Information Library (Western Maine Health, Norway), http://www.wmhcc.org/Library/

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•

Manitoba, Canada: Consumer & Patient Health Information Service (University of Manitoba Libraries), http://www.umanitoba.ca/libraries/units/health/reference/chis.html

•

Manitoba, Canada: J.W. Crane Memorial Library (Deer Lodge Centre, Winnipeg), http://www.deerlodge.mb.ca/crane_library/about.asp

•

Maryland: Health Information Center at the Wheaton Regional Library (Montgomery County, Dept. of Public Libraries, Wheaton Regional Library), http://www.mont.lib.md.us/healthinfo/hic.asp

•

Massachusetts: Baystate Medical Center Library (Baystate Health System), http://www.baystatehealth.com/1024/

•

Massachusetts: Boston University Medical Center Alumni Medical Library (Boston University Medical Center), http://med-libwww.bu.edu/library/lib.html

•

Massachusetts: Lowell General Hospital Health Sciences Library (Lowell General Hospital, Lowell), http://www.lowellgeneral.org/library/HomePageLinks/WWW.htm

•

Massachusetts: Paul E. Woodard Health Sciences Library (New England Baptist Hospital, Boston), http://www.nebh.org/health_lib.asp

•

Massachusetts: St. Luke’s Hospital Health Sciences Library (St. Luke’s Hospital, Southcoast Health System, New Bedford), http://www.southcoast.org/library/

•

Massachusetts: Treadwell Library Consumer Health Reference Center (Massachusetts General Hospital), http://www.mgh.harvard.edu/library/chrcindex.html

•

Massachusetts: UMass HealthNet (University of Massachusetts Medical School, Worchester), http://healthnet.umassmed.edu/

•

Michigan: Botsford General Hospital Library - Consumer Health (Botsford General Hospital, Library & Internet Services), http://www.botsfordlibrary.org/consumer.htm

•

Michigan: Helen DeRoy Medical Library (Providence Hospital and Medical Centers), http://www.providence-hospital.org/library/

•

Michigan: Marquette General Hospital - Consumer Health Library (Marquette General Hospital, Health Information Center), http://www.mgh.org/center.html

•

Michigan: Patient Education Resouce Center - University of Michigan Cancer Center (University of Michigan Comprehensive Cancer Center, Ann Arbor), http://www.cancer.med.umich.edu/learn/leares.htm

•

Michigan: Sladen Library & Center for Health Information Resources - Consumer Health Information (Detroit), http://www.henryford.com/body.cfm?id=39330

•

Montana: Center for Health Information (St. Patrick Hospital and Health Sciences Center, Missoula)

•

National: Consumer Health Library Directory (Medical Library Association, Consumer and Patient Health Information Section), http://caphis.mlanet.org/directory/index.html

•

National: National Network of Libraries of Medicine (National Library of Medicine) provides library services for health professionals in the United States who do not have access to a medical library, http://nnlm.gov/

•

National: NN/LM List of Libraries Serving the Public (National Network of Libraries of Medicine), http://nnlm.gov/members/

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•

Nevada: Health Science Library, West Charleston Library (Las Vegas-Clark County Library District, Las Vegas), http://www.lvccld.org/special_collections/medical/index.htm

•

New Hampshire: Dartmouth Biomedical Libraries (Dartmouth College Library, Hanover), http://www.dartmouth.edu/~biomed/resources.htmld/conshealth.htmld/

•

New Jersey: Consumer Health Library (Rahway Hospital, Rahway), http://www.rahwayhospital.com/library.htm

•

New Jersey: Dr. Walter Phillips Health Sciences Library (Englewood Hospital and Medical Center, Englewood), http://www.englewoodhospital.com/links/index.htm

•

New Jersey: Meland Foundation (Englewood Hospital and Medical Center, Englewood), http://www.geocities.com/ResearchTriangle/9360/

•

New York: Choices in Health Information (New York Public Library) - NLM Consumer Pilot Project participant, http://www.nypl.org/branch/health/links.html

•

New York: Health Information Center (Upstate Medical University, State University of New York, Syracuse), http://www.upstate.edu/library/hic/

•

New York: Health Sciences Library (Long Island Jewish Medical Center, New Hyde Park), http://www.lij.edu/library/library.html

•

New York: ViaHealth Medical Library (Rochester General Hospital), http://www.nyam.org/library/

•

Ohio: Consumer Health Library (Akron General Medical Center, Medical & Consumer Health Library), http://www.akrongeneral.org/hwlibrary.htm

•

Oklahoma: The Health Information Center at Saint Francis Hospital (Saint Francis Health System, Tulsa), http://www.sfh-tulsa.com/services/healthinfo.asp

•

Oregon: Planetree Health Resource Center (Mid-Columbia Medical Center, The Dalles), http://www.mcmc.net/phrc/

•

Pennsylvania: Community Health Information Library (Milton S. Hershey Medical Center, Hershey), http://www.hmc.psu.edu/commhealth/

•

Pennsylvania: Community Health Resource Library (Geisinger Medical Center, Danville), http://www.geisinger.edu/education/commlib.shtml

•

Pennsylvania: HealthInfo Library (Moses Taylor Hospital, Scranton), http://www.mth.org/healthwellness.html

•

Pennsylvania: Hopwood Library (University of Pittsburgh, Health Sciences Library System, Pittsburgh), http://www.hsls.pitt.edu/guides/chi/hopwood/index_html

•

Pennsylvania: Koop Community Health Information Center (College of Physicians of Philadelphia), http://www.collphyphil.org/kooppg1.shtml

•

Pennsylvania: Learning Resources Center - Medical Library (Susquehanna Health System, Williamsport), http://www.shscares.org/services/lrc/index.asp

•

Pennsylvania: Medical Library (UPMC Health System, Pittsburgh), http://www.upmc.edu/passavant/library.htm

•

Quebec, Canada: Medical Library (Montreal General Hospital), http://www.mghlib.mcgill.ca/

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•

South Dakota: Rapid City Regional Hospital Medical Library (Rapid City Regional Hospital), http://www.rcrh.org/Services/Library/Default.asp

•

Texas: Houston HealthWays (Houston Academy of Medicine-Texas Medical Center Library), http://hhw.library.tmc.edu/

•

Washington: Community Health Library (Kittitas Valley Community Hospital), http://www.kvch.com/

•

Washington: Southwest Washington Medical Center Library (Southwest Washington Medical Center, Vancouver), http://www.swmedicalcenter.com/body.cfm?id=72

135

ONLINE GLOSSARIES The Internet provides access to a number of free-to-use medical dictionaries. The National Library of Medicine has compiled the following list of online dictionaries: •

ADAM Medical Encyclopedia (A.D.A.M., Inc.), comprehensive medical reference: http://www.nlm.nih.gov/medlineplus/encyclopedia.html

•

MedicineNet.com Medical Dictionary (MedicineNet, Inc.): http://www.medterms.com/Script/Main/hp.asp

•

Merriam-Webster Medical Dictionary (Inteli-Health, Inc.): http://www.intelihealth.com/IH/

•

Multilingual Glossary of Technical and Popular Medical Terms in Eight European Languages (European Commission) - Danish, Dutch, English, French, German, Italian, Portuguese, and Spanish: http://allserv.rug.ac.be/~rvdstich/eugloss/welcome.html

•

On-line Medical Dictionary (CancerWEB): http://cancerweb.ncl.ac.uk/omd/

•

Rare Diseases Terms (Office of Rare Diseases): http://ord.aspensys.com/asp/diseases/diseases.asp

•

Technology Glossary (National Library of Medicine) - Health Care Technology: http://www.nlm.nih.gov/nichsr/ta101/ta10108.htm

Beyond these, MEDLINEplus contains a very patient-friendly encyclopedia covering every aspect of medicine (licensed from A.D.A.M., Inc.). The ADAM Medical Encyclopedia can be accessed at http://www.nlm.nih.gov/medlineplus/encyclopedia.html. ADAM is also available on commercial Web sites such as drkoop.com (http://www.drkoop.com/) and Web MD (http://my.webmd.com/adam/asset/adam_disease_articles/a_to_z/a). The NIH suggests the following Web sites in the ADAM Medical Encyclopedia when searching for information on albinism: •

Basic Guidelines for Albinism Albinism Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm Ocular albinism Web site: http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm

•

Signs & Symptoms for Albinism Blindness Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003040.htm Nystagmus Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003037.htm Photophobia Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003041.htm

136 Albinism

Skin color, patchy Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003224.htm Sunburn Web site: http://www.nlm.nih.gov/medlineplus/ency/article/003227.htm •

Background Topics for Albinism Iris Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002386.htm Melanin Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002256.htm Metabolism Web site: http://www.nlm.nih.gov/medlineplus/ency/article/002257.htm

Online Dictionary Directories The following are additional online directories compiled by the National Library of Medicine, including a number of specialized medical dictionaries: •

Medical Dictionaries: Medical & Biological (World Health Organization): http://www.who.int/hlt/virtuallibrary/English/diction.htm#Medical

•

MEL-Michigan Electronic Library List of Online Health and Medical Dictionaries (Michigan Electronic Library): http://mel.lib.mi.us/health/health-dictionaries.html

•

Patient Education: Glossaries (DMOZ Open Directory Project): http://dmoz.org/Health/Education/Patient_Education/Glossaries/

•

Web of Online Dictionaries (Bucknell University): http://www.yourdictionary.com/diction5.html#medicine

137

ALBINISM DICTIONARY The definitions below are derived from official public sources, including the National Institutes of Health [NIH] and the European Union [EU]. 3-dimensional: 3-D. A graphic display of depth, width, and height. Three-dimensional radiation therapy uses computers to create a 3-dimensional picture of the tumor. This allows doctors to give the highest possible dose of radiation to the tumor, while sparing the normal tissue as much as possible. [NIH] Abdomen: That portion of the body that lies between the thorax and the pelvis. [NIH] Aberrant: Wandering or deviating from the usual or normal course. [EU] Acceptor: A substance which, while normally not oxidized by oxygen or reduced by hydrogen, can be oxidized or reduced in presence of a substance which is itself undergoing oxidation or reduction. [NIH] Accommodation: Adjustment, especially that of the eye for various distances. [EU] Acidosis: A pathologic condition resulting from accumulation of acid or depletion of the alkaline reserve (bicarbonate content) in the blood and body tissues, and characterized by an increase in hydrogen ion concentration. [EU] Acoustic: Having to do with sound or hearing. [NIH] Acuity: Clarity or clearness, especially of the vision. [EU] Adaptation: 1. The adjustment of an organism to its environment, or the process by which it enhances such fitness. 2. The normal ability of the eye to adjust itself to variations in the intensity of light; the adjustment to such variations. 3. The decline in the frequency of firing of a neuron, particularly of a receptor, under conditions of constant stimulation. 4. In dentistry, (a) the proper fitting of a denture, (b) the degree of proximity and interlocking of restorative material to a tooth preparation, (c) the exact adjustment of bands to teeth. 5. In microbiology, the adjustment of bacterial physiology to a new environment. [EU] Adverse Effect: An unwanted side effect of treatment. [NIH] Aerobic: In biochemistry, reactions that need oxygen to happen or happen when oxygen is present. [NIH] Aerobic Metabolism: A chemical process in which oxygen is used to make energy from carbohydrates (sugars). Also known as aerobic respiration, oxidative metabolism, or cell respiration. [NIH] Aerobic Respiration: A chemical process in which oxygen is used to make energy from carbohydrates (sugars). Also known as oxidative metabolism, cell respiration, or aerobic metabolism. [NIH] Agenesis: Lack of complete or normal development; congenital absence of an organ or part. [NIH]

Albinism: General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair. [NIH] Albinism, Ocular: Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity. [NIH]

138 Albinism

Algorithms: A procedure consisting of a sequence of algebraic formulas and/or logical steps to calculate or determine a given task. [NIH] Alkaline: Having the reactions of an alkali. [EU] Alleles: Mutually exclusive forms of the same gene, occupying the same locus on homologous chromosomes, and governing the same biochemical and developmental process. [NIH] Allylamine: Possesses an unusual and selective cytotoxicity for vascular smooth muscle cells in dogs and rats. Useful for experiments dealing with arterial injury, myocardial fibrosis or cardiac decompensation. [NIH] Alpha Particles: Positively charged particles composed of two protons and two neutrons, i.e., helium nuclei, emitted during disintegration of very heavy isotopes; a beam of alpha particles or an alpha ray has very strong ionizing power, but weak penetrability. [NIH] Alternative medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used instead of standard treatments. Alternative medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Amblyopia: A nonspecific term referring to impaired vision. Major subcategories include stimulus deprivation-induced amblyopia and toxic amblyopia. Stimulus deprivationinduced amblopia is a developmental disorder of the visual cortex. A discrepancy between visual information received by the visual cortex from each eye results in abnormal cortical development. Strabismus and refractive errors may cause this condition. Toxic amblyopia is a disorder of the optic nerve which is associated with alcoholism, tobacco smoking, and other toxins and as an adverse effect of the use of some medications. [NIH] Amenorrhea: Absence of menstruation. [NIH] Amine: An organic compound containing nitrogen; any member of a group of chemical compounds formed from ammonia by replacement of one or more of the hydrogen atoms by organic (hydrocarbon) radicals. The amines are distinguished as primary, secondary, and tertiary, according to whether one, two, or three hydrogen atoms are replaced. The amines include allylamine, amylamine, ethylamine, methylamine, phenylamine, propylamine, and many other compounds. [EU] Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining protein conformation. [NIH] Amino Acid Substitution: The naturally occurring or experimentally induced replacement of one or more amino acids in a protein with another. If a functionally equivalent amino acid is substituted, the protein may retain wild-type activity. Substitution may also diminish or eliminate protein function. Experimentally induced substitution is often used to study enzyme activities and binding site properties. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Amino Acids: Organic compounds that generally contain an amino (-NH2) and a carboxyl (COOH) group. Twenty alpha-amino acids are the subunits which are polymerized to form proteins. [NIH] Ammonia: A colorless alkaline gas. It is formed in the body during decomposition of organic materials during a large number of metabolically important reactions. [NIH]

Dictionary 139

Analogous: Resembling or similar in some respects, as in function or appearance, but not in origin or development;. [EU] Anatomical: Pertaining to anatomy, or to the structure of the organism. [EU] Anemia: A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin. [NIH] Anesthesia: A state characterized by loss of feeling or sensation. This depression of nerve function is usually the result of pharmacologic action and is induced to allow performance of surgery or other painful procedures. [NIH] Animal model: An animal with a disease either the same as or like a disease in humans. Animal models are used to study the development and progression of diseases and to test new treatments before they are given to humans. Animals with transplanted human cancers or other tissues are called xenograft models. [NIH] Aniridia: A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant. [NIH] Anomalies: Birth defects; abnormalities. [NIH] Anorexia: Lack or loss of appetite for food. Appetite is psychologic, dependent on memory and associations. Anorexia can be brought about by unattractive food, surroundings, or company. [NIH] Anorexia Nervosa: The chief symptoms are inability to eat, weight loss, and amenorrhea. [NIH]

Anterior chamber: The space in front of the iris and behind the cornea. [NIH] Anterograde: Moving or extending forward; called also antegrade. [EU] Antibacterial: A substance that destroys bacteria or suppresses their growth or reproduction. [EU] Antibiotic: A drug used to treat infections caused by bacteria and other microorganisms. [NIH]

Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the antigen that induced their synthesis in cells of the lymphoid series (especially plasma cells), or with an antigen closely related to it. [NIH] Antibody: A type of protein made by certain white blood cells in response to a foreign substance (antigen). Each antibody can bind to only a specific antigen. The purpose of this binding is to help destroy the antigen. Antibodies can work in several ways, depending on the nature of the antigen. Some antibodies destroy antigens directly. Others make it easier for white blood cells to destroy the antigen. [NIH] Anticoagulant: A drug that helps prevent blood clots from forming. Also called a blood thinner. [NIH] Antigen: Any substance which is capable, under appropriate conditions, of inducing a specific immune response and of reacting with the products of that response, that is, with specific antibody or specifically sensitized T-lymphocytes, or both. Antigens may be soluble substances, such as toxins and foreign proteins, or particulate, such as bacteria and tissue cells; however, only the portion of the protein or polysaccharide molecule known as the antigenic determinant (q.v.) combines with antibody or a specific receptor on a lymphocyte. Abbreviated Ag. [EU] Antiseptic: A substance that inhibits the growth and development of microorganisms without necessarily killing them. [EU]

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Aphakia: Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of lens dislocation and subluxation. [NIH] Aponeurosis: Tendinous expansion consisting of a fibrous or membranous sheath which serves as a fascia to enclose or bind a group of muscles. [NIH] Aqueous: Having to do with water. [NIH] Arginine: An essential amino acid that is physiologically active in the L-form. [NIH] Arterial: Pertaining to an artery or to the arteries. [EU] Arteries: The vessels carrying blood away from the heart. [NIH] Assay: Determination of the amount of a particular constituent of a mixture, or of the biological or pharmacological potency of a drug. [EU] Astringent: Causing contraction, usually locally after topical application. [EU] Ataxia: Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharnyx, larnyx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or peripheral nerve diseases. Motor ataxia may be associated with cerebellar diseases; cerebral cortex diseases; thalamic diseases; basal ganglia diseases; injury to the red nucleus; and other conditions. [NIH] Attenuated: Strain with weakened or reduced virulence. [NIH] Audiometry: The testing of the acuity of the sense of hearing to determine the thresholds of the lowest intensity levels at which an individual can hear a set of tones. The frequencies between 125 and 8000 Hz are used to test air conduction thresholds, and the frequencies between 250 and 4000 Hz are used to test bone conduction thresholds. [NIH] Auditory: Pertaining to the sense of hearing. [EU] Axonal: Condition associated with metabolic derangement of the entire neuron and is manifest by degeneration of the distal portion of the nerve fiber. [NIH] Axons: Nerve fibers that are capable of rapidly conducting impulses away from the neuron cell body. [NIH] Bacteria: Unicellular prokaryotic microorganisms which generally possess rigid cell walls, multiply by cell division, and exhibit three principal forms: round or coccal, rodlike or bacillary, and spiral or spirochetal. [NIH] Bacteriophage: A virus whose host is a bacterial cell; A virus that exclusively infects bacteria. It generally has a protein coat surrounding the genome (DNA or RNA). One of the coliphages most extensively studied is the lambda phage, which is also one of the most important. [NIH] Basal Ganglia: Large subcortical nuclear masses derived from the telencephalon and located in the basal regions of the cerebral hemispheres. [NIH] Basal Ganglia Diseases: Diseases of the basal ganglia including the putamen; globus pallidus; claustrum; amygdala; and caudate nucleus. Dyskinesias (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include cerebrovascular disease; neurodegenerative diseases; and craniocerebral trauma. [NIH] Base: In chemistry, the nonacid part of a salt; a substance that combines with acids to form salts; a substance that dissociates to give hydroxide ions in aqueous solutions; a substance whose molecule or ion can combine with a proton (hydrogen ion); a substance capable of donating a pair of electrons (to an acid) for the formation of a coordinate covalent bond. [EU]

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Base Sequence: The sequence of purines and pyrimidines in nucleic acids and polynucleotides. It is also called nucleotide or nucleoside sequence. [NIH] Benign: Not cancerous; does not invade nearby tissue or spread to other parts of the body. [NIH]

Bilateral: Affecting both the right and left side of body. [NIH] Bile: An emulsifying agent produced in the liver and secreted into the duodenum. Its composition includes bile acids and salts, cholesterol, and electrolytes. It aids digestion of fats in the duodenum. [NIH] Bile Acids: Acids made by the liver that work with bile to break down fats. [NIH] Biochemical: Relating to biochemistry; characterized by, produced by, or involving chemical reactions in living organisms. [EU] Biogenesis: The origin of life. It includes studies of the potential basis for life in organic compounds but excludes studies of the development of altered forms of life through mutation and natural selection, which is evolution. [NIH] Biopsy: Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body. [NIH] Biosynthesis: The building up of a chemical compound in the physiologic processes of a living organism. [EU] Biotechnology: Body of knowledge related to the use of organisms, cells or cell-derived constituents for the purpose of developing products which are technically, scientifically and clinically useful. Alteration of biologic function at the molecular level (i.e., genetic engineering) is a central focus; laboratory methods used include transfection and cloning technologies, sequence and structure analysis algorithms, computer databases, and gene and protein structure function analysis and prediction. [NIH] Bladder: The organ that stores urine. [NIH] Blastocyst: The mammalian embryo in the post-morula stage in which a fluid-filled cavity, enclosed primarily by trophoblast, contains an inner cell mass which becomes the embryonic disc. [NIH] Blepharoptosis: Drooping of the upper lid due to deficient development or paralysis of the levator palpebrae muscle. [NIH] Blood Coagulation: The process of the interaction of blood coagulation factors that results in an insoluble fibrin clot. [NIH] Blood Platelets: Non-nucleated disk-shaped cells formed in the megakaryocyte and found in the blood of all mammals. They are mainly involved in blood coagulation. [NIH] Blood vessel: A tube in the body through which blood circulates. Blood vessels include a network of arteries, arterioles, capillaries, venules, and veins. [NIH] Blot: To transfer DNA, RNA, or proteins to an immobilizing matrix such as nitrocellulose. [NIH]

Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blotting and transferred to strips of nitrocellulose paper. The blots are then detected by radiolabeled antibody probes. [NIH] Body Image: Individuals' personal concept of their bodies as objects in and bound by space, independently and apart from all other objects. [NIH] Bone Conduction: Sound transmission through the bones of the skull to the inner ear. [NIH] Bone Density: The amount of mineral per square centimeter of bone. This is the definition used in clinical practice. Actual bone density would be expressed in grams per milliliter. It is

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most frequently measured by photon absorptiometry or x-ray computed tomography. [NIH] Bone Marrow: The soft tissue filling the cavities of bones. Bone marrow exists in two types, yellow and red. Yellow marrow is found in the large cavities of large bones and consists mostly of fat cells and a few primitive blood cells. Red marrow is a hematopoietic tissue and is the site of production of erythrocytes and granular leukocytes. Bone marrow is made up of a framework of connective tissue containing branching fibers with the frame being filled with marrow cells. [NIH] Bowel: The long tube-shaped organ in the abdomen that completes the process of digestion. There is both a small and a large bowel. Also called the intestine. [NIH] Bowel Movement: Body wastes passed through the rectum and anus. [NIH] Brain Neoplasms: Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain. [NIH] Branch: Most commonly used for branches of nerves, but applied also to other structures. [NIH]

Breakdown: A physical, metal, or nervous collapse. [NIH] Broad-spectrum: Effective against a wide range of microorganisms; said of an antibiotic. [EU] Buccal: Pertaining to or directed toward the cheek. In dental anatomy, used to refer to the buccal surface of a tooth. [EU] Bullous: Pertaining to or characterized by bullae. [EU] Calcium: A basic element found in nearly all organized tissues. It is a member of the alkaline earth family of metals with the atomic symbol Ca, atomic number 20, and atomic weight 40. Calcium is the most abundant mineral in the body and combines with phosphorus to form calcium phosphate in the bones and teeth. It is essential for the normal functioning of nerves and muscles and plays a role in blood coagulation (as factor IV) and in many enzymatic processes. [NIH] Carbohydrate: An aldehyde or ketone derivative of a polyhydric alcohol, particularly of the pentahydric and hexahydric alcohols. They are so named because the hydrogen and oxygen are usually in the proportion to form water, (CH2O)n. The most important carbohydrates are the starches, sugars, celluloses, and gums. They are classified into mono-, di-, tri-, polyand heterosaccharides. [EU] Carcinogenic: Producing carcinoma. [EU] Carcinoma: Cancer that begins in the skin or in tissues that line or cover internal organs. [NIH]

Cardiac: Having to do with the heart. [NIH] Cardiovascular: Having to do with the heart and blood vessels. [NIH] Carotene: The general name for a group of pigments found in green, yellow, and leafy vegetables, and yellow fruits. The pigments are fat-soluble, unsaturated aliphatic hydrocarbons functioning as provitamins and are converted to vitamin A through enzymatic processes in the intestinal wall. [NIH] Carrier State: The condition of harboring an infective organism without manifesting symptoms of infection. The organism must be readily transmissable to another susceptible host. [NIH]

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Case report: A detailed report of the diagnosis, treatment, and follow-up of an individual patient. Case reports also contain some demographic information about the patient (for example, age, gender, ethnic origin). [NIH] Cataract: An opacity, partial or complete, of one or both eyes, on or in the lens or capsule, especially an opacity impairing vision or causing blindness. The many kinds of cataract are classified by their morphology (size, shape, location) or etiology (cause and time of occurrence). [EU] Catechol: A chemical originally isolated from a type of mimosa tree. Catechol is used as an astringent, an antiseptic, and in photography, electroplating, and making other chemicals. It can also be man-made. [NIH] Catechol Oxidase: An enzyme of the oxidoreductase class that catalyzes the reaction between catechol and oxygen to yield benzoquinone and water. It is a complex of coppercontaining proteins that acts also on a variety of substituted catechols. EC 1.10.3.1. [NIH] Caudal: Denoting a position more toward the cauda, or tail, than some specified point of reference; same as inferior, in human anatomy. [EU] Cell: The individual unit that makes up all of the tissues of the body. All living things are made up of one or more cells. [NIH] Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function which takes place during the development of the embryo and leads to the formation of specialized cells, tissues, and organs. [NIH] Cell Movement: The movement of cells from one location to another. [NIH] Cell proliferation: An increase in the number of cells as a result of cell growth and cell division. [NIH] Cell Respiration: The metabolic process of all living cells (animal and plant) in which oxygen is used to provide a source of energy for the cell. [NIH] Cell Size: The physical dimensions of a cell. It refers mainly to changes in dimensions correlated with physiological or pathological changes in cells. [NIH] Cell Transplantation: Transference of cells within an individual, between individuals of the same species, or between individuals of different species. [NIH] Central Nervous System: The main information-processing organs of the nervous system, consisting of the brain, spinal cord, and meninges. [NIH] Central Nervous System Infections: Pathogenic infections of the brain, spinal cord, and meninges. DNA virus infections; RNA virus infections; bacterial infections; mycoplasma infections; Spirochaetales infections; fungal infections; protozoan infections; helminthiasis; and prion diseases may involve the central nervous system as a primary or secondary process. [NIH] Cerebellar: Pertaining to the cerebellum. [EU] Cerebellar Diseases: Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia. [NIH] Cerebral: Of or pertaining of the cerebrum or the brain. [EU] Cerebral Infarction: The formation of an area of necrosis in the cerebrum caused by an insufficiency of arterial or venous blood flow. Infarcts of the cerebrum are generally classified by hemisphere (i.e., left vs. right), lobe (e.g., frontal lobe infarction), arterial distribution (e.g., infarction, anterior cerebral artery), and etiology (e.g., embolic infarction). [NIH]

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Cerebrospinal: Pertaining to the brain and spinal cord. [EU] Cerebrospinal fluid: CSF. The fluid flowing around the brain and spinal cord. Cerebrospinal fluid is produced in the ventricles in the brain. [NIH] Ceroid: A naturally occurring lipid pigment with histochemical characteristics similar to lipofuscin. It accumulates in various tissues in certain experimental and pathological conditions. [NIH] Cervical: Relating to the neck, or to the neck of any organ or structure. Cervical lymph nodes are located in the neck; cervical cancer refers to cancer of the uterine cervix, which is the lower, narrow end (the "neck") of the uterus. [NIH] Chimera: An individual that contains cell populations derived from different zygotes. [NIH] Chimeric Proteins: Proteins in individuals that are derived from genetically different zygotes. [NIH] Cholesterol: The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils. [NIH] Chorioretinitis: Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body. [NIH] Choroid: The thin, highly vascular membrane covering most of the posterior of the eye between the retina and sclera. [NIH] Chromatin: The material of chromosomes. It is a complex of DNA, histones, and nonhistone proteins (chromosomal proteins, non-histone) found within the nucleus of a cell. [NIH] Chromosomal: Pertaining to chromosomes. [EU] Chromosomal Proteins, Non-Histone: Nucleoproteins which in contrast to histones are acid insoluble. They are involved in chromosomal functions; e.g. they bind selectively to DNA, stimulate transcription resulting in tissue-specific RNA synthesis and undergo specific changes in response to various hormones or phytomitogens. [NIH] Chromosome: Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes. [NIH] Chromosome Aberrations: Deviations from the normal number or structure of chromosomes, not necessarily associated with disease. [NIH] Chronic: A disease or condition that persists or progresses over a long period of time. [NIH] Circadian: Repeated more or less daily, i. e. on a 23- to 25-hour cycle. [NIH] CIS: Cancer Information Service. The CIS is the National Cancer Institute's link to the public, interpreting and explaining research findings in a clear and understandable manner, and providing personalized responses to specific questions about cancer. Access the CIS by calling 1-800-4-CANCER, or by using the Web site at http://cis.nci.nih.gov. [NIH] Clear cell carcinoma: A rare type of tumor of the female genital tract in which the inside of the cells looks clear when viewed under a microscope. [NIH] Clinical trial: A research study that tests how well new medical treatments or other interventions work in people. Each study is designed to test new methods of screening, prevention, diagnosis, or treatment of a disease. [NIH] Cloning: The production of a number of genetically identical individuals; in genetic engineering, a process for the efficient replication of a great number of identical DNA molecules. [NIH] Cochlea: The part of the internal ear that is concerned with hearing. It forms the anterior

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part of the labyrinth, is conical, and is placed almost horizontally anterior to the vestibule. [NIH]

Cochlear: Of or pertaining to the cochlea. [EU] Cochlear Microphonic Potentials: The electric response of the cochlear hair cells to acoustic stimulation. [NIH] Codon: A set of three nucleotides in a protein coding sequence that specifies individual amino acids or a termination signal (codon, terminator). Most codons are universal, but some organisms do not produce the transfer RNAs (RNA, transfer) complementary to all codons. These codons are referred to as unassigned codons (codons, nonsense). [NIH] Cofactor: A substance, microorganism or environmental factor that activates or enhances the action of another entity such as a disease-causing agent. [NIH] Colitis: Inflammation of the colon. [NIH] Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of skin, connective tissue, and the organic substance of bones and teeth. Different forms of collagen are produced in the body but all consist of three alpha-polypeptide chains arranged in a triple helix. Collagen is differentiated from other fibrous proteins, such as elastin, by the content of proline, hydroxyproline, and hydroxylysine; by the absence of tryptophan; and particularly by the high content of polar groups which are responsible for its swelling properties. [NIH] Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation. [NIH] Color blindness: A form of defective color vision requiring only two primary colors, mixed in various proportions, to match all other colors. [NIH] Complement: A term originally used to refer to the heat-labile factor in serum that causes immune cytolysis, the lysis of antibody-coated cells, and now referring to the entire functionally related system comprising at least 20 distinct serum proteins that is the effector not only of immune cytolysis but also of other biologic functions. Complement activation occurs by two different sequences, the classic and alternative pathways. The proteins of the classic pathway are termed 'components of complement' and are designated by the symbols C1 through C9. C1 is a calcium-dependent complex of three distinct proteins C1q, C1r and C1s. The proteins of the alternative pathway (collectively referred to as the properdin system) and complement regulatory proteins are known by semisystematic or trivial names. Fragments resulting from proteolytic cleavage of complement proteins are designated with lower-case letter suffixes, e.g., C3a. Inactivated fragments may be designated with the suffix 'i', e.g. C3bi. Activated components or complexes with biological activity are designated by a bar over the symbol e.g. C1 or C4b,2a. The classic pathway is activated by the binding of C1 to classic pathway activators, primarily antigen-antibody complexes containing IgM, IgG1, IgG3; C1q binds to a single IgM molecule or two adjacent IgG molecules. The alternative pathway can be activated by IgA immune complexes and also by nonimmunologic materials including bacterial endotoxins, microbial polysaccharides, and cell walls. Activation of the classic pathway triggers an enzymatic cascade involving C1, C4, C2 and C3; activation of the alternative pathway triggers a cascade involving C3 and factors B, D and P. Both result in the cleavage of C5 and the formation of the membrane attack complex. Complement activation also results in the formation of many biologically active complement fragments that act as anaphylatoxins, opsonins, or chemotactic factors. [EU] Complementary and alternative medicine: CAM. Forms of treatment that are used in addition to (complementary) or instead of (alternative) standard treatments. These practices are not considered standard medical approaches. CAM includes dietary supplements, megadose vitamins, herbal preparations, special teas, massage therapy, magnet therapy,

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spiritual healing, and meditation. [NIH] Complementary medicine: Practices not generally recognized by the medical community as standard or conventional medical approaches and used to enhance or complement the standard treatments. Complementary medicine includes the taking of dietary supplements, megadose vitamins, and herbal preparations; the drinking of special teas; and practices such as massage therapy, magnet therapy, spiritual healing, and meditation. [NIH] Computational Biology: A field of biology concerned with the development of techniques for the collection and manipulation of biological data, and the use of such data to make biological discoveries or predictions. This field encompasses all computational methods and theories applicable to molecular biology and areas of computer-based techniques for solving biological problems including manipulation of models and datasets. [NIH] Concomitant: Accompanying; accessory; joined with another. [EU] Conduction: The transfer of sound waves, heat, nervous impulses, or electricity. [EU] Cone: One of the special retinal receptor elements which are presumed to be primarily concerned with perception of light and color stimuli when the eye is adapted to light. [NIH] Confounding: Extraneous variables resulting in outcome effects that obscure or exaggerate the "true" effect of an intervention. [NIH] Congenita: Displacement, subluxation, or malposition of the crystalline lens. [NIH] Conjugated: Acting or operating as if joined; simultaneous. [EU] Conjunctiva: The mucous membrane that lines the inner surface of the eyelids and the anterior part of the sclera. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Connective Tissue: Tissue that supports and binds other tissues. It consists of connective tissue cells embedded in a large amount of extracellular matrix. [NIH] Constitutional: 1. Affecting the whole constitution of the body; not local. 2. Pertaining to the constitution. [EU] Constriction: The act of constricting. [NIH] Contraindications: Any factor or sign that it is unwise to pursue a certain kind of action or treatment, e. g. giving a general anesthetic to a person with pneumonia. [NIH] Contralateral: Having to do with the opposite side of the body. [NIH] Cornea: The transparent part of the eye that covers the iris and the pupil and allows light to enter the inside. [NIH] Corneum: The superficial layer of the epidermis containing keratinized cells. [NIH] Coronary: Encircling in the manner of a crown; a term applied to vessels; nerves, ligaments, etc. The term usually denotes the arteries that supply the heart muscle and, by extension, a pathologic involvement of them. [EU] Coronary Thrombosis: Presence of a thrombus in a coronary artery, often causing a myocardial infarction. [NIH] Corpus: The body of the uterus. [NIH] Corpus Callosum: Broad plate of dense myelinated fibers that reciprocally interconnect regions of the cortex in all lobes with corresponding regions of the opposite hemisphere. The corpus callosum is located deep in the longitudinal fissure. [NIH] Cortex: The outer layer of an organ or other body structure, as distinguished from the internal substance. [EU]

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Cortical: Pertaining to or of the nature of a cortex or bark. [EU] Corticosteroid: Any of the steroids elaborated by the adrenal cortex (excluding the sex hormones of adrenal origin) in response to the release of corticotrophin (adrenocorticotropic hormone) by the pituitary gland, to any of the synthetic equivalents of these steroids, or to angiotensin II. They are divided, according to their predominant biological activity, into three major groups: glucocorticoids, chiefly influencing carbohydrate, fat, and protein metabolism; mineralocorticoids, affecting the regulation of electrolyte and water balance; and C19 androgens. Some corticosteroids exhibit both types of activity in varying degrees, and others exert only one type of effect. The corticosteroids are used clinically for hormonal replacement therapy, for suppression of ACTH secretion by the anterior pituitary, as antineoplastic, antiallergic, and anti-inflammatory agents, and to suppress the immune response. Called also adrenocortical hormone and corticoid. [EU] Cranial: Pertaining to the cranium, or to the anterior (in animals) or superior (in humans) end of the body. [EU] Craniocerebral Trauma: Traumatic injuries involving the cranium and intracranial structures (i.e., brain; cranial nerves; meninges; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage. [NIH] Crossing-over: The exchange of corresponding segments between chromatids of homologous chromosomes during meiosia, forming a chiasma. [NIH] Crystallization: The formation of crystals; conversion to a crystalline form. [EU] Cues: Signals for an action; that specific portion of a perceptual field or pattern of stimuli to which a subject has learned to respond. [NIH] Cutaneous: Having to do with the skin. [NIH] Cysteine: A thiol-containing non-essential amino acid that is oxidized to form cystine. [NIH] Cysteinyldopa: Found in large amounts in the plasma and urine of patients with malignant melanoma. It is therefore used in the diagnosis of melanoma and for the detection of postoperative metastases. Cysteinyldopa is believed to be formed by the rapid enzymatic hydrolysis of 5-S-glutathionedopa found in melanin-producing cells. [NIH] Cystine: A covalently linked dimeric nonessential amino acid formed by the oxidation of cysteine. Two molecules of cysteine are joined together by a disulfide bridge to form cystine. [NIH]

Cytochrome: Any electron transfer hemoprotein having a mode of action in which the transfer of a single electron is effected by a reversible valence change of the central iron atom of the heme prosthetic group between the +2 and +3 oxidation states; classified as cytochromes a in which the heme contains a formyl side chain, cytochromes b, which contain protoheme or a closely similar heme that is not covalently bound to the protein, cytochromes c in which protoheme or other heme is covalently bound to the protein, and cytochromes d in which the iron-tetrapyrrole has fewer conjugated double bonds than the hemes have. Well-known cytochromes have been numbered consecutively within groups and are designated by subscripts (beginning with no subscript), e.g. cytochromes c, c1, C2, . New cytochromes are named according to the wavelength in nanometres of the absorption maximum of the a-band of the iron (II) form in pyridine, e.g., c-555. [EU] Cytoplasm: The protoplasm of a cell exclusive of that of the nucleus; it consists of a continuous aqueous solution (cytosol) and the organelles and inclusions suspended in it (phaneroplasm), and is the site of most of the chemical activities of the cell. [EU] Cytoskeleton: The network of filaments, tubules, and interconnecting filamentous bridges which give shape, structure, and organization to the cytoplasm. [NIH]

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Cytotoxic: Cell-killing. [NIH] Dark Adaptation: Adjustment of the eyes under conditions of low light. The sensitivity of the eye to light is increased during dark adaptation. [NIH] Databases, Bibliographic: Extensive collections, reputedly complete, of references and citations to books, articles, publications, etc., generally on a single subject or specialized subject area. Databases can operate through automated files, libraries, or computer disks. The concept should be differentiated from factual databases which is used for collections of data and facts apart from bibliographic references to them. [NIH] Degenerative: Undergoing degeneration : tending to degenerate; having the character of or involving degeneration; causing or tending to cause degeneration. [EU] Deletion: A genetic rearrangement through loss of segments of DNA (chromosomes), bringing sequences, which are normally separated, into close proximity. [NIH] Delusions: A false belief regarding the self or persons or objects outside the self that persists despite the facts, and is not considered tenable by one's associates. [NIH] Dendrites: Extensions of the nerve cell body. They are short and branched and receive stimuli from other neurons. [NIH] Dendritic: 1. Branched like a tree. 2. Pertaining to or possessing dendrites. [EU] Density: The logarithm to the base 10 of the opacity of an exposed and processed film. [NIH] Depigmentation: Removal or loss of pigment, especially melanin. [EU] Depolarization: The process or act of neutralizing polarity. In neurophysiology, the reversal of the resting potential in excitable cell membranes when stimulated, i.e., the tendency of the cell membrane potential to become positive with respect to the potential outside the cell. [EU] Depressive Disorder: An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent. [NIH] Deprivation: Loss or absence of parts, organs, powers, or things that are needed. [EU] Depth Perception: Perception of three-dimensionality. [NIH] DES: Diethylstilbestrol. A synthetic hormone that was prescribed from the early 1940s until 1971 to help women with complications of pregnancy. DES has been linked to an increased risk of clear cell carcinoma of the vagina in daughters of women who used DES. DES may also increase the risk of breast cancer in women who used DES. [NIH] Diabetes Mellitus: A heterogeneous group of disorders that share glucose intolerance in common. [NIH] Diagnostic procedure: A method used to identify a disease. [NIH] Diathesis: A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the person more than usually susceptible to certain diseases. [EU] Diffusion: The tendency of a gas or solute to pass from a point of higher pressure or concentration to a point of lower pressure or concentration and to distribute itself throughout the available space; a major mechanism of biological transport. [NIH] Digestion: The process of breakdown of food for metabolism and use by the body. [NIH] Digestive system: The organs that take in food and turn it into products that the body can use to stay healthy. Waste products the body cannot use leave the body through bowel movements. The digestive system includes the salivary glands, mouth, esophagus, stomach, liver, pancreas, gallbladder, small and large intestines, and rectum. [NIH]

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Digestive tract: The organs through which food passes when food is eaten. These organs are the mouth, esophagus, stomach, small and large intestines, and rectum. [NIH] Dilation: A process by which the pupil is temporarily enlarged with special eye drops (mydriatic); allows the eye care specialist to better view the inside of the eye. [NIH] Dilution: A diluted or attenuated medicine; in homeopathy, the diffusion of a given quantity of a medicinal agent in ten or one hundred times the same quantity of water. [NIH] Direct: 1. Straight; in a straight line. 2. Performed immediately and without the intervention of subsidiary means. [EU] Discrimination: The act of qualitative and/or quantitative differentiation between two or more stimuli. [NIH] Dislocation: The displacement of any part, more especially of a bone. Called also luxation. [EU]

Disparity: Failure of the two retinal images of an object to fall on corresponding retinal points. [NIH] Dissection: Cutting up of an organism for study. [NIH] Distal: Remote; farther from any point of reference; opposed to proximal. In dentistry, used to designate a position on the dental arch farther from the median line of the jaw. [EU] Domesticated: Species in which the evolutionary process has been influenced by humans to meet their needs. [NIH] Dopa: The racemic or DL form of DOPA, an amino acid found in various legumes. The dextro form has little physiologic activity but the levo form (levodopa) is a very important physiologic mediator and precursor and pharmacological agent. [NIH] Dorsal: 1. Pertaining to the back or to any dorsum. 2. Denoting a position more toward the back surface than some other object of reference; same as posterior in human anatomy; superior in the anatomy of quadrupeds. [EU] Dorsum: A plate of bone which forms the posterior boundary of the sella turcica. [NIH] Drive: A state of internal activity of an organism that is a necessary condition before a given stimulus will elicit a class of responses; e.g., a certain level of hunger (drive) must be present before food will elicit an eating response. [NIH] Dyes: Chemical substances that are used to stain and color other materials. The coloring may or may not be permanent. Dyes can also be used as therapeutic agents and test reagents in medicine and scientific research. [NIH] Dysgenesis: Defective development. [EU] Dyspnea: Difficult or labored breathing. [NIH] Dystrophy: Any disorder arising from defective or faulty nutrition, especially the muscular dystrophies. [EU] Ectoderm: The outer of the three germ layers of the embryo. [NIH] Effector: It is often an enzyme that converts an inactive precursor molecule into an active second messenger. [NIH] Effector cell: A cell that performs a specific function in response to a stimulus; usually used to describe cells in the immune system. [NIH] Elective: Subject to the choice or decision of the patient or physician; applied to procedures that are advantageous to the patient but not urgent. [EU] Electrons: Stable elementary particles having the smallest known negative charge, present in all elements; also called negatrons. Positively charged electrons are called positrons. The

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numbers, energies and arrangement of electrons around atomic nuclei determine the chemical identities of elements. Beams of electrons are called cathode rays or beta rays, the latter being a high-energy biproduct of nuclear decay. [NIH] Electrophysiological: Pertaining to electrophysiology, that is a branch of physiology that is concerned with the electric phenomena associated with living bodies and involved in their functional activity. [EU] Electroplating: Coating with a metal or alloy by electrolysis. [NIH] Electroretinogram: The electrical effect recorded from the surface of the eyeball and originated by a pulse of light. [NIH] Embryo: The prenatal stage of mammalian development characterized by rapid morphological changes and the differentiation of basic structures. [NIH] Emollient: Softening or soothing; called also malactic. [EU] Environmental Health: The science of controlling or modifying those conditions, influences, or forces surrounding man which relate to promoting, establishing, and maintaining health. [NIH]

Enzymatic: Phase where enzyme cuts the precursor protein. [NIH] Enzyme: A protein that speeds up chemical reactions in the body. [NIH] Epidermis: Nonvascular layer of the skin. It is made up, from within outward, of five layers: 1) basal layer (stratum basale epidermidis); 2) spinous layer (stratum spinosum epidermidis); 3) granular layer (stratum granulosum epidermidis); 4) clear layer (stratum lucidum epidermidis); and 5) horny layer (stratum corneum epidermidis). [NIH] Epidermoid carcinoma: A type of cancer in which the cells are flat and look like fish scales. Also called squamous cell carcinoma. [NIH] Epinephrine: The active sympathomimetic hormone from the adrenal medulla in most species. It stimulates both the alpha- and beta- adrenergic systems, causes systemic vasoconstriction and gastrointestinal relaxation, stimulates the heart, and dilates bronchi and cerebral vessels. It is used in asthma and cardiac failure and to delay absorption of local anesthetics. [NIH] Epithelial: Refers to the cells that line the internal and external surfaces of the body. [NIH] Epithelial Cells: Cells that line the inner and outer surfaces of the body. [NIH] Epithelium: One or more layers of epithelial cells, supported by the basal lamina, which covers the inner or outer surfaces of the body. [NIH] Erythema: Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes. [NIH] Erythroblasts: Immature, nucleated erythrocytes occupying the stage of erythropoiesis that follows formation of erythroid progenitor cells and precedes formation of reticulocytes. Popularly called normoblasts. [NIH] Erythrocytes: Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing hemoglobin whose function is to transport oxygen. [NIH] Erythroid Progenitor Cells: Committed, erythroid stem cells derived from myeloid stem cells. The progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E). BFU-E differentiate into CFU-E on stimulation by erythropoietin, and then further differentiate into erythroblasts when stimulated by other factors. [NIH] Erythropoiesis: The production of erythrocytes. [EU]

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Esophagus: The muscular tube through which food passes from the throat to the stomach. [NIH]

Esotropia: A form of ocular misalignment characterized by an excessive convergence of the visual axes, resulting in a "cross-eye" appearance. An example of this condition occurs when paralysis of the lateral rectus muscle causes an abnormal inward deviation of one eye on attempted gaze. [NIH] Ethnic Groups: A group of people with a common cultural heritage that sets them apart from others in a variety of social relationships. [NIH] Eukaryotic Cells: Cells of the higher organisms, containing a true nucleus bounded by a nuclear membrane. [NIH] Evoked Potentials: The electric response evoked in the central nervous system by stimulation of sensory receptors or some point on the sensory pathway leading from the receptor to the cortex. The evoked stimulus can be auditory, somatosensory, or visual, although other modalities have been reported. Event-related potentials is sometimes used synonymously with evoked potentials but is often associated with the execution of a motor, cognitive, or psychophysiological task, as well as with the response to a stimulus. [NIH] Excitation: An act of irritation or stimulation or of responding to a stimulus; the addition of energy, as the excitation of a molecule by absorption of photons. [EU] Exon: The part of the DNA that encodes the information for the actual amino acid sequence of the protein. In many eucaryotic genes, the coding sequences consist of a series of exons alternating with intron sequences. [NIH] Exotropia: A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction. [NIH] Expiration: The act of breathing out, or expelling air from the lungs. [EU] Extensor: A muscle whose contraction tends to straighten a limb; the antagonist of a flexor. [NIH]

Extracellular: Outside a cell or cells. [EU] Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere. [NIH] Extraction: The process or act of pulling or drawing out. [EU] Family Planning: Programs or services designed to assist the family in controlling reproduction by either improving or diminishing fertility. [NIH] Fat: Total lipids including phospholipids. [NIH] Ferrets: Semidomesticated variety of European polecat much used for hunting rodents and/or rabbits and as a laboratory animal. [NIH] Fetal Hemoglobin: The major component of hemoglobin in the fetus. This hemoglobin has two alpha and two gamma polypeptide subunits in comparison to normal adult hemoglobin, which has two alpha and two beta polypeptide subunits. Fetal hemoglobin concentrations can be elevated (usually above 0.5%) in children and adults affected by leukemia and several types of anemia. [NIH] Fetus: The developing offspring from 7 to 8 weeks after conception until birth. [NIH]

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Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. [NIH] Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury. [NIH] Fissure: Any cleft or groove, normal or otherwise; especially a deep fold in the cerebral cortex which involves the entire thickness of the brain wall. [EU] Flatus: Gas passed through the rectum. [NIH] Flow Cytometry: Technique using an instrument system for making, processing, and displaying one or more measurements on individual cells obtained from a cell suspension. Cells are usually stained with one or more fluorescent dyes specific to cell components of interest, e.g., DNA, and fluorescence of each cell is measured as it rapidly transverses the excitation beam (laser or mercury arc lamp). Fluorescence provides a quantitative measure of various biochemical and biophysical properties of the cell, as well as a basis for cell sorting. Other measurable optical parameters include light absorption and light scattering, the latter being applicable to the measurement of cell size, shape, density, granularity, and stain uptake. [NIH] Fluorescence: The property of emitting radiation while being irradiated. The radiation emitted is usually of longer wavelength than that incident or absorbed, e.g., a substance can be irradiated with invisible radiation and emit visible light. X-ray fluorescence is used in diagnosis. [NIH] Fluorescent Dyes: Dyes that emit light when exposed to light. The wave length of the emitted light is usually longer than that of the incident light. Fluorochromes are substances that cause fluorescence in other substances, i.e., dyes used to mark or label other compounds with fluorescent tags. They are used as markers in biochemistry and immunology. [NIH] Fossa: A cavity, depression, or pit. [NIH] Frameshift: A type of mutation which causes out-of-phase transcription of the base sequence; such mutations arise from the addition or delection of nucleotide(s) in numbers other than 3 or multiples of 3. [NIH] Frameshift Mutation: A type of mutation in which a number of nucleotides not divisible by three is deleted from or inserted into a coding sequence, thereby causing an alteration in the reading frame of the entire sequence downstream of the mutation. These mutations may be induced by certain types of mutagens or may occur spontaneously. [NIH] Fundus: The larger part of a hollow organ that is farthest away from the organ's opening. The bladder, gallbladder, stomach, uterus, eye, and cavity of the middle ear all have a fundus. [NIH] Funduscopy: A test to look at the back area of the eye to see if there is any damage to the vessels that bring blood to the retina. The doctor uses a device called an ophthalmoscope to check the eye. [NIH] Galactose Oxidase: An enzyme that oxidizes galactose in the presence of molecular oxygen to D-galacto-hexodialdose. It is a copper protein. EC 1.1.3.9. [NIH] Gallbladder: The pear-shaped organ that sits below the liver. Bile is concentrated and stored in the gallbladder. [NIH] Ganglia: Clusters of multipolar neurons surrounded by a capsule of loosely organized connective tissue located outside the central nervous system. [NIH] Ganglion: 1. A knot, or knotlike mass. 2. A general term for a group of nerve cell bodies located outside the central nervous system; occasionally applied to certain nuclear groups within the brain or spinal cord, e.g. basal ganglia. 3. A benign cystic tumour occurring on a

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aponeurosis or tendon, as in the wrist or dorsum of the foot; it consists of a thin fibrous capsule enclosing a clear mucinous fluid. [EU] Gas: Air that comes from normal breakdown of food. The gases are passed out of the body through the rectum (flatus) or the mouth (burp). [NIH] Gastrin: A hormone released after eating. Gastrin causes the stomach to produce more acid. [NIH]

Gastrointestinal: Refers to the stomach and intestines. [NIH] Gastrointestinal tract: The stomach and intestines. [NIH] Gastrula: The embryo in the early stage following the blastula, characterized by morphogenetic cell movements, cell differentiation, and the formation of the three germ layers. [NIH] Gene: The functional and physical unit of heredity passed from parent to offspring. Genes are pieces of DNA, and most genes contain the information for making a specific protein. [NIH]

Gene Deletion: A genetic rearrangement through loss of segments of DNA or RNA, bringing sequences which are normally separated into close proximity. This deletion may be detected using cytogenetic techniques and can also be inferred from the phenotype, indicating a deletion at one specific locus. [NIH] Gene Expression: The phenotypic manifestation of a gene or genes by the processes of gene action. [NIH] Genetic Counseling: Advising families of the risks involved pertaining to birth defects, in order that they may make an informed decision on current or future pregnancies. [NIH] Genetic Engineering: Directed modification of the gene complement of a living organism by such techniques as altering the DNA, substituting genetic material by means of a virus, transplanting whole nuclei, transplanting cell hybrids, etc. [NIH] Genetics: The biological science that deals with the phenomena and mechanisms of heredity. [NIH] Genotype: The genetic constitution of the individual; the characterization of the genes. [NIH] Germ Layers: The three layers of cells comprising the early embryo. [NIH] Gestation: The period of development of the young in viviparous animals, from the time of fertilization of the ovum until birth. [EU] Gland: An organ that produces and releases one or more substances for use in the body. Some glands produce fluids that affect tissues or organs. Others produce hormones or participate in blood production. [NIH] Glare: Scatter from bright light that decreases vision. [NIH] Glucose: D-Glucose. A primary source of energy for living organisms. It is naturally occurring and is found in fruits and other parts of plants in its free state. It is used therapeutically in fluid and nutrient replacement. [NIH] Glucose Intolerance: A pathological state in which the fasting plasma glucose level is less than 140 mg per deciliter and the 30-, 60-, or 90-minute plasma glucose concentration following a glucose tolerance test exceeds 200 mg per deciliter. This condition is seen frequently in diabetes mellitus but also occurs with other diseases. [NIH] Glutamate: Excitatory neurotransmitter of the brain. [NIH] Glutamic Acid: A non-essential amino acid naturally occurring in the L-form. Glutamic acid (glutamate) is the most common excitatory neurotransmitter in the central nervous system. [NIH]

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Glutamine: A non-essential amino acid present abundantly throught the body and is involved in many metabolic processes. It is synthesized from glutamic acid and ammonia. It is the principal carrier of nitrogen in the body and is an important energy source for many cells. [NIH] Glutathione Peroxidase: An enzyme catalyzing the oxidation of 2 moles of glutathione in the presence of hydrogen peroxide to yield oxidized glutathione and water. EC 1.11.1.9. [NIH]

Glycerol: A trihydroxy sugar alcohol that is an intermediate in carbohydrate and lipid metabolism. It is used as a solvent, emollient, pharmaceutical agent, and sweetening agent. [NIH]

Glycerol Kinase: An enzyme that catalyzes the formation of glycerol 3-phosphate from ATP and glycerol. Dihydroxyacetone and L-glyceraldehyde can also act as acceptors; UTP and, in the case of the yeast enzyme, ITP and GTP can act as donors. It provides a way for glycerol derived from fats or glycerides to enter the glycolytic pathway. EC 2.7.1.30. [NIH] Glycoprotein: A protein that has sugar molecules attached to it. [NIH] Glycosylation: The chemical or biochemical addition of carbohydrate or glycosyl groups to other chemicals, especially peptides or proteins. Glycosyl transferases are used in this biochemical reaction. [NIH] Gonadal: Pertaining to a gonad. [EU] Gonads: The gamete-producing glands, ovary or testis. [NIH] Governing Board: The group in which legal authority is vested for the control of healthrelated institutions and organizations. [NIH] Grafting: The operation of transfer of tissue from one site to another. [NIH] Gram-negative: Losing the stain or decolorized by alcohol in Gram's method of staining, a primary characteristic of bacteria having a cell wall composed of a thin layer of peptidoglycan covered by an outer membrane of lipoprotein and lipopolysaccharide. [EU] Gram-positive: Retaining the stain or resisting decolorization by alcohol in Gram's method of staining, a primary characteristic of bacteria whose cell wall is composed of a thick layer of peptidologlycan with attached teichoic acids. [EU] Granule: A small pill made from sucrose. [EU] Granulocytes: Leukocytes with abundant granules in the cytoplasm. They are divided into three groups: neutrophils, eosinophils, and basophils. [NIH] Growth: The progressive development of a living being or part of an organism from its earliest stage to maturity. [NIH] Growth Cones: Bulbous enlargement of the growing tip of nerve axons and dendrites. They are crucial to neuronal development because of their pathfinding ability and their role in synaptogenesis. [NIH] Guinea Pigs: A common name used for the family Caviidae. The most common species is Cavia porcellus which is the domesticated guinea pig used for pets and biomedical research. [NIH]

Hair Cells: Mechanoreceptors located in the organ of Corti that are sensitive to auditory stimuli and in the vestibular apparatus that are sensitive to movement of the head. In each case the accessory sensory structures are arranged so that appropriate stimuli cause movement of the hair-like projections (stereocilia and kinocilia) which relay the information centrally in the nervous system. [NIH] Hair Color: Color of hair or fur. [NIH]

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Headache: Pain in the cranial region that may occur as an isolated and benign symptom or as a manifestation of a wide variety of conditions including subarachnoid hemorrhage; craniocerebral trauma; central nervous system infections; intracranial hypertension; and other disorders. In general, recurrent headaches that are not associated with a primary disease process are referred to as headache disorders (e.g., migraine). [NIH] Heart failure: Loss of pumping ability by the heart, often accompanied by fatigue, breathlessness, and excess fluid accumulation in body tissues. [NIH] Heme: The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins. [NIH] Hemoglobin: One of the fractions of glycosylated hemoglobin A1c. Glycosylated hemoglobin is formed when linkages of glucose and related monosaccharides bind to hemoglobin A and its concentration represents the average blood glucose level over the previous several weeks. HbA1c levels are used as a measure of long-term control of plasma glucose (normal, 4 to 6 percent). In controlled diabetes mellitus, the concentration of glycosylated hemoglobin A is within the normal range, but in uncontrolled cases the level may be 3 to 4 times the normal conentration. Generally, complications are substantially lower among patients with Hb levels of 7 percent or less than in patients with HbA1c levels of 9 percent or more. [NIH] Hemoglobin H: An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in alpha-thalassemia. [NIH] Hemolytic: A disease that affects the blood and blood vessels. It destroys red blood cells, cells that cause the blood to clot, and the lining of blood vessels. HUS is often caused by the Escherichia coli bacterium in contaminated food. People with HUS may develop acute renal failure. [NIH] Hemorrhage: Bleeding or escape of blood from a vessel. [NIH] Hemorrhaging: A copious discharge of blood from the blood vessels. [NIH] Hemostasis: The process which spontaneously arrests the flow of blood from vessels carrying blood under pressure. It is accomplished by contraction of the vessels, adhesion and aggregation of formed blood elements, and the process of blood or plasma coagulation. [NIH]

Hereditary: Of, relating to, or denoting factors that can be transmitted genetically from one generation to another. [NIH] Heredity: 1. The genetic transmission of a particular quality or trait from parent to offspring. 2. The genetic constitution of an individual. [EU] Heterogeneity: The property of one or more samples or populations which implies that they are not identical in respect of some or all of their parameters, e. g. heterogeneity of variance. [NIH]

Heterotropia: One in which the angle of squint remains relatively unaltered on conjugate movement of the eyes. [NIH] Heterozygote: An individual having different alleles at one or more loci in homologous chromosome segments. [NIH] Homeotic: Characterizes genes the mutations of which lead to inappropriate expressions of characteristics normally associated with another part of the organism (homeotic mutants). [NIH]

Homologous: Corresponding in structure, position, origin, etc., as (a) the feathers of a bird and the scales of a fish, (b) antigen and its specific antibody, (c) allelic chromosomes. [EU] Homozygotes: An individual having a homozygous gene pair. [NIH]

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Hormonal: Pertaining to or of the nature of a hormone. [EU] Hormone: A substance in the body that regulates certain organs. Hormones such as gastrin help in breaking down food. Some hormones come from cells in the stomach and small intestine. [NIH] Host: Any animal that receives a transplanted graft. [NIH] Hybrid: Cross fertilization between two varieties or, more usually, two species of vines, see also crossing. [NIH] Hybridization: The genetic process of crossbreeding to produce a hybrid. Hybrid nucleic acids can be formed by nucleic acid hybridization of DNA and RNA molecules. Protein hybridization allows for hybrid proteins to be formed from polypeptide chains. [NIH] Hydrocephalus: Excessive accumulation of cerebrospinal fluid within the cranium which may be associated with dilation of cerebral ventricles, intracranial hypertension; headache; lethargy; urinary incontinence; and ataxia (and in infants macrocephaly). This condition may be caused by obstruction of cerebrospinal fluid pathways due to neurologic abnormalities, intracranial hemorrhages; central nervous system infections; brain neoplasms; craniocerebral trauma; and other conditions. Impaired resorption of cerebrospinal fluid from the arachnoid villi results in a communicating form of hydrocephalus. Hydrocephalus ex-vacuo refers to ventricular dilation that occurs as a result of brain substance loss from cerebral infarction and other conditions. [NIH] Hydrogen: The first chemical element in the periodic table. It has the atomic symbol H, atomic number 1, and atomic weight 1. It exists, under normal conditions, as a colorless, odorless, tasteless, diatomic gas. Hydrogen ions are protons. Besides the common H1 isotope, hydrogen exists as the stable isotope deuterium and the unstable, radioactive isotope tritium. [NIH] Hydrolysis: The process of cleaving a chemical compound by the addition of a molecule of water. [NIH] Hydroxylation: Hydroxylate, to introduce hydroxyl into (a compound or radical) usually by replacement of hydrogen. [EU] Hyperpigmentation: Excessive pigmentation of the skin, usually as a result of increased melanization of the epidermis rather than as a result of an increased number of melanocytes. Etiology is varied and the condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance. [NIH] Hypertrophy: General increase in bulk of a part or organ, not due to tumor formation, nor to an increase in the number of cells. [NIH] Hypogonadism: Condition resulting from or characterized by abnormally decreased functional activity of the gonads, with retardation of growth and sexual development. [NIH] Hypopigmentation: A condition caused by a deficiency in melanin formation or a loss of pre-existing melanin or melanocytes. It can be complete or partial and may result from trauma, inflammation, and certain infections. [NIH] Hypoplasia: Incomplete development or underdevelopment of an organ or tissue. [EU] Ichthyosis: Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis. Most are genetic, but some are acquired, developing in association with other systemic disease or genetic syndrome. [NIH] Id: The part of the personality structure which harbors the unconscious instinctive desires and strivings of the individual. [NIH]

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Immune response: The activity of the immune system against foreign substances (antigens). [NIH]

Immune system: The organs, cells, and molecules responsible for the recognition and disposal of foreign ("non-self") material which enters the body. [NIH] Immunity: Nonsusceptibility to the invasive or pathogenic microorganisms or to the toxic effect of antigenic substances. [NIH]

effects

of

foreign

Immunoblotting: Immunologic methods for isolating and quantitatively measuring immunoreactive substances. When used with immune reagents such as monoclonal antibodies, the process is known generically as western blot analysis (blotting, western). [NIH]

Immunodeficiency: The decreased ability of the body to fight infection and disease. [NIH] Immunofluorescence: A technique for identifying molecules present on the surfaces of cells or in tissues using a highly fluorescent substance coupled to a specific antibody. [NIH] Impairment: In the context of health experience, an impairment is any loss or abnormality of psychological, physiological, or anatomical structure or function. [NIH] Implantation: The insertion or grafting into the body of biological, living, inert, or radioactive material. [EU] In vitro: In the laboratory (outside the body). The opposite of in vivo (in the body). [NIH] In vivo: In the body. The opposite of in vitro (outside the body or in the laboratory). [NIH] Incontinence: Inability to control the flow of urine from the bladder (urinary incontinence) or the escape of stool from the rectum (fecal incontinence). [NIH] Indicative: That indicates; that points out more or less exactly; that reveals fairly clearly. [EU] Infancy: The period of complete dependency prior to the acquisition of competence in walking, talking, and self-feeding. [NIH] Infantile: Pertaining to an infant or to infancy. [EU] Infarction: A pathological process consisting of a sudden insufficient blood supply to an area, which results in necrosis of that area. It is usually caused by a thrombus, an embolus, or a vascular torsion. [NIH] Infection: 1. Invasion and multiplication of microorganisms in body tissues, which may be clinically unapparent or result in local cellular injury due to competitive metabolism, toxins, intracellular replication, or antigen-antibody response. The infection may remain localized, subclinical, and temporary if the body's defensive mechanisms are effective. A local infection may persist and spread by extension to become an acute, subacute, or chronic clinical infection or disease state. A local infection may also become systemic when the microorganisms gain access to the lymphatic or vascular system. 2. An infectious disease. [EU]

Inflammation: A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function. [NIH] Initiation: Mutation induced by a chemical reactive substance causing cell changes; being a step in a carcinogenic process. [NIH] Innervation: 1. The distribution or supply of nerves to a part. 2. The supply of nervous energy or of nerve stimulus sent to a part. [EU] Insertional: A technique in which foreign DNA is cloned into a restriction site which occupies a position within the coding sequence of a gene in the cloning vector molecule. Insertion interrupts the gene's sequence such that its original function is no longer

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expressed. [NIH] Insight: The capacity to understand one's own motives, to be aware of one's own psychodynamics, to appreciate the meaning of symbolic behavior. [NIH] Interspecific: Occurring among members of different species. [NIH] Interstitial: Pertaining to or situated between parts or in the interspaces of a tissue. [EU] Intestine: A long, tube-shaped organ in the abdomen that completes the process of digestion. There is both a large intestine and a small intestine. Also called the bowel. [NIH] Intracellular: Inside a cell. [NIH] Intracellular Membranes: Membranes of subcellular structures. [NIH] Intracranial Hemorrhages: Bleeding within the intracranial cavity, including hemorrhages in the brain and within the cranial epidural, subdural, and subarachnoid spaces. [NIH] Intracranial Hypertension: Increased pressure within the cranial vault. This may result from several conditions, including hydrocephalus; brain edema; intracranial masses; severe systemic hypertension; pseudotumor cerebri; and other disorders. [NIH] Intraocular: Within the eye. [EU] Invasive: 1. Having the quality of invasiveness. 2. Involving puncture or incision of the skin or insertion of an instrument or foreign material into the body; said of diagnostic techniques. [EU]

Involuntary: Reaction occurring without intention or volition. [NIH] Ion Channels: Gated, ion-selective glycoproteins that traverse membranes. The stimulus for channel gating can be a membrane potential, drug, transmitter, cytoplasmic messenger, or a mechanical deformation. Ion channels which are integral parts of ionotropic neurotransmitter receptors are not included. [NIH] Ions: An atom or group of atoms that have a positive or negative electric charge due to a gain (negative charge) or loss (positive charge) of one or more electrons. Atoms with a positive charge are known as cations; those with a negative charge are anions. [NIH] Ipsilateral: Having to do with the same side of the body. [NIH] Iris: The most anterior portion of the uveal layer, separating the anterior chamber from the posterior. It consists of two layers - the stroma and the pigmented epithelium. Color of the iris depends on the amount of melanin in the stroma on reflection from the pigmented epithelium. [NIH] Ischemia: Deficiency of blood in a part, due to functional constriction or actual obstruction of a blood vessel. [EU] Kanamycin: Antibiotic complex produced by Streptomyces kanamyceticus from Japanese soil. Comprises 3 components: kanamycin A, the major component, and kanamycins B and C, the minor components. [NIH] Karyotype: The characteristic chromosome complement of an individual, race, or species as defined by their number, size, shape, etc. [NIH] Kb: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest DNA fragments are up to 50 kilobases long. [NIH] Keratoconjunctivitis: Simultaneous inflammation of the cornea and conjunctiva. [NIH] Keratoconjunctivitis Sicca: Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with xerostomia and polyarthritis, it is called Sjogren's syndrome. [NIH] Kilobase: A measure of the length of DNA fragments, 1 Kb = 1000 base pairs. The largest

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DNA fragments are up to 50 kilobases long. [NIH] Lacrimal: Pertaining to the tears. [EU] Large Intestine: The part of the intestine that goes from the cecum to the rectum. The large intestine absorbs water from stool and changes it from a liquid to a solid form. The large intestine is 5 feet long and includes the appendix, cecum, colon, and rectum. Also called colon. [NIH] Lectin: A complex molecule that has both protein and sugars. Lectins are able to bind to the outside of a cell and cause biochemical changes in it. Lectins are made by both animals and plants. [NIH] Lens: The transparent, double convex (outward curve on both sides) structure suspended between the aqueous and vitreous; helps to focus light on the retina. [NIH] Lesion: An area of abnormal tissue change. [NIH] Lethargy: Abnormal drowsiness or stupor; a condition of indifference. [EU] Leukemia: Cancer of blood-forming tissue. [NIH] Leukocytes: White blood cells. These include granular leukocytes (basophils, eosinophils, and neutrophils) as well as non-granular leukocytes (lymphocytes and monocytes). [NIH] Levo: It is an experimental treatment for heroin addiction that was developed by German scientists around 1948 as an analgesic. Like methadone, it binds with opioid receptors, but it is longer acting. [NIH] Levodopa: The naturally occurring form of dopa and the immediate precursor of dopamine. Unlike dopamine itself, it can be taken orally and crosses the blood-brain barrier. It is rapidly taken up by dopaminergic neurons and converted to dopamine. It is used for the treatment of parkinsonism and is usually given with agents that inhibit its conversion to dopamine outside of the central nervous system. [NIH] Library Services: Services offered to the library user. They include reference and circulation. [NIH]

Ligands: A RNA simulation method developed by the MIT. [NIH] Linkage: The tendency of two or more genes in the same chromosome to remain together from one generation to the next more frequently than expected according to the law of independent assortment. [NIH] Linkage Disequilibrium: Nonrandom association of linked genes. This is the tendency of the alleles of two separate but already linked loci to be found together more frequently than would be expected by chance alone. [NIH] Lipid: Fat. [NIH] Lipofuscin: A naturally occurring lipid pigment with histochemical characteristics similar to ceroid. It accumulates in various normal tissues and apparently increases in quantity with age. [NIH] Lithium: An element in the alkali metals family. It has the atomic symbol Li, atomic number 3, and atomic weight 6.94. Salts of lithium are used in treating manic-depressive disorders. [NIH]

Liver: A large, glandular organ located in the upper abdomen. The liver cleanses the blood and aids in digestion by secreting bile. [NIH] Localization: The process of determining or marking the location or site of a lesion or disease. May also refer to the process of keeping a lesion or disease in a specific location or site. [NIH] Localized: Cancer which has not metastasized yet. [NIH]

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Low vision: Visual loss that cannot be corrected with eyeglasses or contact lenses and interferes with daily living activities. [NIH] Lupus: A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the nasal, buccal, and conjunctival mucosa. [NIH] Lupus Nephritis: Glomerulonephritis associated with systemic lupus erythematosus. It is classified into four histologic types: mesangial, focal, diffuse, and membranous. [NIH] Lymph: The almost colorless fluid that travels through the lymphatic system and carries cells that help fight infection and disease. [NIH] Lymph node: A rounded mass of lymphatic tissue that is surrounded by a capsule of connective tissue. Also known as a lymph gland. Lymph nodes are spread out along lymphatic vessels and contain many lymphocytes, which filter the lymphatic fluid (lymph). [NIH]

Lymphatic: The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. [NIH] Lymphatic system: The tissues and organs that produce, store, and carry white blood cells that fight infection and other diseases. This system includes the bone marrow, spleen, thymus, lymph nodes and a network of thin tubes that carry lymph and white blood cells. These tubes branch, like blood vessels, into all the tissues of the body. [NIH] Lymphocyte: A white blood cell. Lymphocytes have a number of roles in the immune system, including the production of antibodies and other substances that fight infection and diseases. [NIH] Lymphoid: Referring to lymphocytes, a type of white blood cell. Also refers to tissue in which lymphocytes develop. [NIH] Lysosome: A sac-like compartment inside a cell that has enzymes that can break down cellular components that need to be destroyed. [NIH] Magnetic Resonance Imaging: Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques. [NIH] Major Histocompatibility Complex: The genetic region which contains the loci of genes which determine the structure of the serologically defined (SD) and lymphocyte-defined (LD) transplantation antigens, genes which control the structure of the immune responseassociated (Ia) antigens, the immune response (Ir) genes which control the ability of an animal to respond immunologically to antigenic stimuli, and genes which determine the structure and/or level of the first four components of complement. [NIH] Malignancy: A cancerous tumor that can invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malignant: Cancerous; a growth with a tendency to invade and destroy nearby tissue and spread to other parts of the body. [NIH] Malnutrition: A condition caused by not eating enough food or not eating a balanced diet. [NIH]

Manic: Affected with mania. [EU] Manic-depressive psychosis: One of a group of psychotic reactions, fundamentally marked by severe mood swings and a tendency to remission and recurrence. [NIH] Manifest: Being the part or aspect of a phenomenon that is directly observable : concretely expressed in behaviour. [EU]

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Man-made: Ionizing radiation emitted by artificial or concentrated natural, radioactive material or resulting from the operation of high voltage apparatus, such as X-ray apparatus or particle accelerators, of nuclear reactors, or from nuclear explosions. [NIH] Medial: Lying near the midsaggital plane of the body; opposed to lateral. [NIH] Mediator: An object or substance by which something is mediated, such as (1) a structure of the nervous system that transmits impulses eliciting a specific response; (2) a chemical substance (transmitter substance) that induces activity in an excitable tissue, such as nerve or muscle; or (3) a substance released from cells as the result of the interaction of antigen with antibody or by the action of antigen with a sensitized lymphocyte. [EU] MEDLINE: An online database of MEDLARS, the computerized bibliographic Medical Literature Analysis and Retrieval System of the National Library of Medicine. [NIH] Melanin: The substance that gives the skin its color. [NIH] Melanoblasts: Cell originating from the neural crest that differentiates into a melanocyte. [NIH]

Melanocytes: Epidermal dendritic pigment cells which control long-term morphological color changes by alteration in their number or in the amount of pigment they produce and store in the pigment containing organelles called melanosomes. Melanophores are larger cells which do not exist in mammals. [NIH] Melanoma: A form of skin cancer that arises in melanocytes, the cells that produce pigment. Melanoma usually begins in a mole. [NIH] Melanophores: Chromatophores (large pigment cells of fish, amphibia, reptiles and many invertebrates) which contain melanin. Short term color changes are brought about by an active redistribution of the melanophores pigment containing organelles (melanosomes). Mammals do not have melanophores; however they have retained smaller pigment cells known as melanocytes. [NIH] Melanosomes: Melanin-containing organelles found in melanocytes and melanophores. [NIH]

Membrane: A very thin layer of tissue that covers a surface. [NIH] Membrane Glycoproteins: Glycoproteins found on the membrane or surface of cells. [NIH] Membrane Proteins: Proteins which are found in membranes including cellular and intracellular membranes. They consist of two types, peripheral and integral proteins. They include most membrane-associated enzymes, antigenic proteins, transport proteins, and drug, hormone, and lectin receptors. [NIH] Memory: Complex mental function having four distinct phases: (1) memorizing or learning, (2) retention, (3) recall, and (4) recognition. Clinically, it is usually subdivided into immediate, recent, and remote memory. [NIH] Meninges: The three membranes that cover and protect the brain and spinal cord. [NIH] Meningitis: Inflammation of the meninges. When it affects the dura mater, the disease is termed pachymeningitis; when the arachnoid and pia mater are involved, it is called leptomeningitis, or meningitis proper. [EU] Mental Disorders: Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function. [NIH] Mental Health: The state wherein the person is well adjusted. [NIH] Mental Retardation: Refers to sub-average general intellectual functioning which originated during the developmental period and is associated with impairment in adaptive behavior.

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[NIH]

Mercury: A silver metallic element that exists as a liquid at room temperature. It has the atomic symbol Hg (from hydrargyrum, liquid silver), atomic number 80, and atomic weight 200.59. Mercury is used in many industrial applications and its salts have been employed therapeutically as purgatives, antisyphilitics, disinfectants, and astringents. It can be absorbed through the skin and mucous membranes which leads to mercury poisoning. Because of its toxicity, the clinical use of mercury and mercurials is diminishing. [NIH] Metastasis: The spread of cancer from one part of the body to another. Tumors formed from cells that have spread are called "secondary tumors" and contain cells that are like those in the original (primary) tumor. The plural is metastases. [NIH] Metastatic: Having to do with metastasis, which is the spread of cancer from one part of the body to another. [NIH] MI: Myocardial infarction. Gross necrosis of the myocardium as a result of interruption of the blood supply to the area; it is almost always caused by atherosclerosis of the coronary arteries, upon which coronary thrombosis is usually superimposed. [NIH] Microorganism: An organism that can be seen only through a microscope. Microorganisms include bacteria, protozoa, algae, and fungi. Although viruses are not considered living organisms, they are sometimes classified as microorganisms. [NIH] Microphthalmos: Congenital or developmental anomaly in which the eyeballs are abnormally small. [NIH] Microscopy: The application of microscope magnification to the study of materials that cannot be properly seen by the unaided eye. [NIH] Migration: The systematic movement of genes between populations of the same species, geographic race, or variety. [NIH] Milliliter: A measure of volume for a liquid. A milliliter is approximately 950-times smaller than a quart and 30-times smaller than a fluid ounce. A milliliter of liquid and a cubic centimeter (cc) of liquid are the same. [NIH] Mitochondria: Parts of a cell where aerobic production (also known as cell respiration) takes place. [NIH] Mobility: Capability of movement, of being moved, or of flowing freely. [EU] Modification: A change in an organism, or in a process in an organism, that is acquired from its own activity or environment. [NIH] Molecular: Of, pertaining to, or composed of molecules : a very small mass of matter. [EU] Molecule: A chemical made up of two or more atoms. The atoms in a molecule can be the same (an oxygen molecule has two oxygen atoms) or different (a water molecule has two hydrogen atoms and one oxygen atom). Biological molecules, such as proteins and DNA, can be made up of many thousands of atoms. [NIH] Monitor: An apparatus which automatically records such physiological signs as respiration, pulse, and blood pressure in an anesthetized patient or one undergoing surgical or other procedures. [NIH] Monoclonal: An antibody produced by culturing a single type of cell. It therefore consists of a single species of immunoglobulin molecules. [NIH] Monoclonal antibodies: Laboratory-produced substances that can locate and bind to cancer cells wherever they are in the body. Many monoclonal antibodies are used in cancer detection or therapy; each one recognizes a different protein on certain cancer cells. Monoclonal antibodies can be used alone, or they can be used to deliver drugs, toxins, or

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radioactive material directly to a tumor. [NIH] Monogenic: A human disease caused by a mutation in a single gene. [NIH] Morphological: Relating to the configuration or the structure of live organs. [NIH] Morphology: The science of the form and structure of organisms (plants, animals, and other forms of life). [NIH] Morula: The early embryo at the developmental stage in which the blastomeres, resulting from repeated mitotic divisions of the fertilized ovum, form a compact mass. [NIH] Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single zygote, as opposed to chimerism in which the different cell populations are derived from more than one zygote. [NIH] Motility: The ability to move spontaneously. [EU] Mucinous: Containing or resembling mucin, the main compound in mucus. [NIH] Mucosa: A mucous membrane, or tunica mucosa. [EU] Muscle Fibers: Large single cells, either cylindrical or prismatic in shape, that form the basic unit of muscle tissue. They consist of a soft contractile substance enclosed in a tubular sheath. [NIH] Muscular Atrophy: Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation. [NIH] Muscular Dystrophies: A general term for a group of inherited disorders which are characterized by progressive degeneration of skeletal muscles. [NIH] Mutagenesis: Process of generating genetic mutations. It may occur spontaneously or be induced by mutagens. [NIH] Mutagens: Chemical agents that increase the rate of genetic mutation by interfering with the function of nucleic acids. A clastogen is a specific mutagen that causes breaks in chromosomes. [NIH] Myocardium: The muscle tissue of the heart composed of striated, involuntary muscle known as cardiac muscle. [NIH] Myopia: That error of refraction in which rays of light entering the eye parallel to the optic axis are brought to a focus in front of the retina, as a result of the eyeball being too long from front to back (axial m.) or of an increased strength in refractive power of the media of the eye (index m.). Called also nearsightedness, because the near point is less distant than it is in emmetropia with an equal amplitude of accommodation. [EU] Nasal Cavity: The proximal portion of the respiratory passages on either side of the nasal septum, lined with ciliated mucosa, extending from the nares to the pharynx. [NIH] Nasal Septum: The partition separating the two nasal cavities in the midplane, composed of cartilaginous, membranous and bony parts. [NIH] Natural selection: A part of the evolutionary process resulting in the survival and reproduction of the best adapted individuals. [NIH] NCI: National Cancer Institute. NCI, part of the National Institutes of Health of the United States Department of Health and Human Services, is the federal government's principal agency for cancer research. NCI conducts, coordinates, and funds cancer research, training, health information dissemination, and other programs with respect to the cause, diagnosis, prevention, and treatment of cancer. Access the NCI Web site at http://cancer.gov. [NIH] Nearsightedness: The common term for myopia. [NIH]

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Necrosis: A pathological process caused by the progressive degradative action of enzymes that is generally associated with severe cellular trauma. It is characterized by mitochondrial swelling, nuclear flocculation, uncontrolled cell lysis, and ultimately cell death. [NIH] Need: A state of tension or dissatisfaction felt by an individual that impels him to action toward a goal he believes will satisfy the impulse. [NIH] Neomycin: Antibiotic complex produced by Streptomyces fradiae. It is composed of neomycins A, B, and C. It acts by inhibiting translation during protein synthesis. [NIH] Neoplastic: Pertaining to or like a neoplasm (= any new and abnormal growth); pertaining to neoplasia (= the formation of a neoplasm). [EU] Nerve: A cordlike structure of nervous tissue that connects parts of the nervous system with other tissues of the body and conveys nervous impulses to, or away from, these tissues. [NIH] Nerve Fibers: Slender processes of neurons, especially the prolonged axons that conduct nerve impulses. [NIH] Nervi: The physiological cup of the optic nerve head. [NIH] Nervous System: The entire nerve apparatus composed of the brain, spinal cord, nerves and ganglia. [NIH] Networks: Pertaining to a nerve or to the nerves, a meshlike structure of interlocking fibers or strands. [NIH] Neural: 1. Pertaining to a nerve or to the nerves. 2. Situated in the region of the spinal axis, as the neutral arch. [EU] Neural Crest: A strip of specialized ectoderm flanking each side of the embryonal neural plate, which after the closure of the neural tube, forms a column of isolated cells along the dorsal aspect of the neural tube. Most of the cranial and all of the spinal sensory ganglion cells arise by differentiation of neural crest cells. [NIH] Neuroanatomy: Study of the anatomy of the nervous system as a specialty or discipline. [NIH]

Neurologic: Having to do with nerves or the nervous system. [NIH] Neuronal: Pertaining to a neuron or neurons (= conducting cells of the nervous system). [EU] Neurons: The basic cellular units of nervous tissue. Each neuron consists of a body, an axon, and dendrites. Their purpose is to receive, conduct, and transmit impulses in the nervous system. [NIH] Neuroretinitis: Inflammation of the optic nerve head and adjacent retina. [NIH] Neurotoxic: Poisonous or destructive to nerve tissue. [EU] Neurotransmitters: Endogenous signaling molecules that alter the behavior of neurons or effector cells. Neurotransmitter is used here in its most general sense, including not only messengers that act directly to regulate ion channels, but also those that act through second messenger systems, and those that act at a distance from their site of release. Included are neuromodulators, neuroregulators, neuromediators, and neurohumors, whether or not acting at synapses. [NIH] Neutrons: Electrically neutral elementary particles found in all atomic nuclei except light hydrogen; the mass is equal to that of the proton and electron combined and they are unstable when isolated from the nucleus, undergoing beta decay. Slow, thermal, epithermal, and fast neutrons refer to the energy levels with which the neutrons are ejected from heavier nuclei during their decay. [NIH] Nevus: A benign growth on the skin, such as a mole. A mole is a cluster of melanocytes and surrounding supportive tissue that usually appears as a tan, brown, or flesh-colored spot on

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the skin. The plural of nevus is nevi (NEE-vye). [NIH] Night Blindness: Anomaly of vision in which there is a pronounced inadequacy or complete absence of dark-adaptation. [NIH] Nitrogen: An element with the atomic symbol N, atomic number 7, and atomic weight 14. Nitrogen exists as a diatomic gas and makes up about 78% of the earth's atmosphere by volume. It is a constituent of proteins and nucleic acids and found in all living cells. [NIH] Nuclear: A test of the structure, blood flow, and function of the kidneys. The doctor injects a mildly radioactive solution into an arm vein and uses x-rays to monitor its progress through the kidneys. [NIH] Nuclei: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nucleic acid: Either of two types of macromolecule (DNA or RNA) formed by polymerization of nucleotides. Nucleic acids are found in all living cells and contain the information (genetic code) for the transfer of genetic information from one generation to the next. [NIH] Nucleic Acid Hybridization: The process whereby two single-stranded polynucleotides form a double-stranded molecule, with hydrogen bonding between the complementary bases in the two strains. [NIH] Nucleus: A body of specialized protoplasm found in nearly all cells and containing the chromosomes. [NIH] Nystagmus: Rhythmical oscillation of the eyeballs, either pendular or jerky. [NIH] Ocular: 1. Of, pertaining to, or affecting the eye. 2. Eyepiece. [EU] Ofloxacin: An orally administered broad-spectrum quinolone antibacterial drug active against most gram-negative and gram-positive bacteria. [NIH] Oncogenic: Chemical, viral, radioactive or other agent that causes cancer; carcinogenic. [NIH] Oogenesis: The formation, development, and maturation of the female germ cell. [NIH] Opacity: Degree of density (area most dense taken for reading). [NIH] Ophthalmic: Pertaining to the eye. [EU] Ophthalmoscope: A lighted instrument used to examine the inside of the eye, including the retina and the optic nerve. [NIH] Opsin: A protein formed, together with retinene, by the chemical breakdown of metarhodopsin. [NIH] Optic Chiasm: The X-shaped structure formed by the meeting of the two optic nerves. At the optic chiasm the fibers from the medial part of each retina cross to project to the other side of the brain while the lateral retinal fibers continue on the same side. As a result each half of the brain receives information about the contralateral visual field from both eyes. [NIH]

Optic cup: The white, cup-like area in the center of the optic disc. [NIH] Optic Nerve: The 2nd cranial nerve. The optic nerve conveys visual information from the retina to the brain. The nerve carries the axons of the retinal ganglion cells which sort at the optic chiasm and continue via the optic tracts to the brain. The largest projection is to the lateral geniculate nuclei; other important targets include the superior colliculi and the suprachiasmatic nuclei. Though known as the second cranial nerve, it is considered part of the central nervous system. [NIH] Optic nerve head: The circular area (disc) where the optic nerve connects to the retina. [NIH]

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Organelles: Specific particles of membrane-bound organized living substances present in eukaryotic cells, such as the mitochondria; the golgi apparatus; endoplasmic reticulum; lysomomes; plastids; and vacuoles. [NIH] Ototoxic: Having a deleterious effect upon the eighth nerve, or upon the organs of hearing and balance. [EU] Oxidation: The act of oxidizing or state of being oxidized. Chemically it consists in the increase of positive charges on an atom or the loss of negative charges. Most biological oxidations are accomplished by the removal of a pair of hydrogen atoms (dehydrogenation) from a molecule. Such oxidations must be accompanied by reduction of an acceptor molecule. Univalent o. indicates loss of one electron; divalent o., the loss of two electrons. [EU]

Oxidative metabolism: A chemical process in which oxygen is used to make energy from carbohydrates (sugars). Also known as aerobic respiration, cell respiration, or aerobic metabolism. [NIH] Pancreas: A mixed exocrine and endocrine gland situated transversely across the posterior abdominal wall in the epigastric and hypochondriac regions. The endocrine portion is comprised of the Islets of Langerhans, while the exocrine portion is a compound acinar gland that secretes digestive enzymes. [NIH] Paralysis: Loss of ability to move all or part of the body. [NIH] Parathyroid: 1. Situated beside the thyroid gland. 2. One of the parathyroid glands. 3. A sterile preparation of the water-soluble principle(s) of the parathyroid glands, ad-ministered parenterally as an antihypocalcaemic, especially in the treatment of acute hypoparathyroidism with tetany. [EU] Parathyroid Glands: Two small paired endocrine glands in the region of the thyroid gland. They secrete parathyroid hormone and are concerned with the metabolism of calcium and phosphorus. [NIH] Parathyroid hormone: A substance made by the parathyroid gland that helps the body store and use calcium. Also called parathormone, parathyrin, or PTH. [NIH] Particle: A tiny mass of material. [EU] Parturition: The act or process of given birth to a child. [EU] Pathogenesis: The cellular events and reactions that occur in the development of disease. [NIH]

Pathologic: 1. Indicative of or caused by a morbid condition. 2. Pertaining to pathology (= branch of medicine that treats the essential nature of the disease, especially the structural and functional changes in tissues and organs of the body caused by the disease). [EU] Pathologies: The study of abnormality, especially the study of diseases. [NIH] Pathophysiology: Altered functions in an individual or an organ due to disease. [NIH] Patient Education: The teaching or training of patients concerning their own health needs. [NIH]

Pedigree: A record of one's ancestors, offspring, siblings, and their offspring that may be used to determine the pattern of certain genes or disease inheritance within a family. [NIH] Peptide: Any compound consisting of two or more amino acids, the building blocks of proteins. Peptides are combined to make proteins. [NIH] Perception: The ability quickly and accurately to recognize similarities and differences among presented objects, whether these be pairs of words, pairs of number series, or multiple sets of these or other symbols such as geometric figures. [NIH]

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Perfusion: Bathing an organ or tissue with a fluid. In regional perfusion, a specific area of the body (usually an arm or a leg) receives high doses of anticancer drugs through a blood vessel. Such a procedure is performed to treat cancer that has not spread. [NIH] Peripheral blood: Blood circulating throughout the body. [NIH] PH: The symbol relating the hydrogen ion (H+) concentration or activity of a solution to that of a given standard solution. Numerically the pH is approximately equal to the negative logarithm of H+ concentration expressed in molarity. pH 7 is neutral; above it alkalinity increases and below it acidity increases. [EU] Pharmacologic: Pertaining to pharmacology or to the properties and reactions of drugs. [EU] Pharynx: The hollow tube about 5 inches long that starts behind the nose and ends at the top of the trachea (windpipe) and esophagus (the tube that goes to the stomach). [NIH] Phenotype: The outward appearance of the individual. It is the product of interactions between genes and between the genotype and the environment. This includes the killer phenotype, characteristic of yeasts. [NIH] Phenylalanine: An aromatic amino acid that is essential in the animal diet. It is a precursor of melanin, dopamine, noradrenalin, and thyroxine. [NIH] Phospholipases: A class of enzymes that catalyze the hydrolysis of phosphoglycerides or glycerophosphatidates. EC 3.1.-. [NIH] Phospholipids: Lipids containing one or more phosphate groups, particularly those derived from either glycerol (phosphoglycerides; glycerophospholipids) or sphingosine (sphingolipids). They are polar lipids that are of great importance for the structure and function of cell membranes and are the most abundant of membrane lipids, although not stored in large amounts in the system. [NIH] Phosphorus: A non-metallic element that is found in the blood, muscles, nevers, bones, and teeth, and is a component of adenosine triphosphate (ATP; the primary energy source for the body's cells.) [NIH] Photophobia: Abnormal sensitivity to light. This may occur as a manifestation of eye diseases; migraine; subarachnoid hemorrhage; meningitis; and other disorders. Photophobia may also occur in association with depression and other mental disorders. [NIH] Photoreceptor: Receptor capable of being activated by light stimuli, as a rod or cone cell of the eye. [NIH] Physiologic: Having to do with the functions of the body. When used in the phrase "physiologic age," it refers to an age assigned by general health, as opposed to calendar age. [NIH]

Physiology: The science that deals with the life processes and functions of organismus, their cells, tissues, and organs. [NIH] Piebaldism: Autosomal dominant, congenital disorder characterized by localized hypomelanosis of the skin and hair. The most familiar feature is a white forelock presenting in 80 to 90 percent of the patients. The underlying defect is possibly related to the differentiation and migration of melanoblasts, as well as to defective development of the neural crest (neurocristopathy). Piebaldism may be closely related to Waardenburg's syndrome. [NIH] Pigment: A substance that gives color to tissue. Pigments are responsible for the color of skin, eyes, and hair. [NIH] Pigmentation: Coloration or discoloration of a part by a pigment. [NIH] Plants: Multicellular, eukaryotic life forms of the kingdom Plantae. They are characterized

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by a mainly photosynthetic mode of nutrition; essentially unlimited growth at localized regions of cell divisions (meristems); cellulose within cells providing rigidity; the absence of organs of locomotion; absense of nervous and sensory systems; and an alteration of haploid and diploid generations. [NIH] Plasma: The clear, yellowish, fluid part of the blood that carries the blood cells. The proteins that form blood clots are in plasma. [NIH] Plasma cells: A type of white blood cell that produces antibodies. [NIH] Plastids: Self-replicating cytoplasmic organelles of plant and algal cells that contain pigments and may synthesize and accumulate various substances. Plastids are used in phylogenetic studies. [NIH] Platelet Activation: A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. [NIH] Point Mutation: A mutation caused by the substitution of one nucleotide for another. This results in the DNA molecule having a change in a single base pair. [NIH] Polyarthritis: An inflammation of several joints together. [EU] Polymorphic: Occurring in several or many forms; appearing in different forms at different stages of development. [EU] Polymorphism: The occurrence together of two or more distinct forms in the same population. [NIH] Polypeptide: A peptide which on hydrolysis yields more than two amino acids; called tripeptides, tetrapeptides, etc. according to the number of amino acids contained. [EU] Polysaccharide: A type of carbohydrate. It contains sugar molecules that are linked together chemically. [NIH] Posterior: Situated in back of, or in the back part of, or affecting the back or dorsal surface of the body. In lower animals, it refers to the caudal end of the body. [EU] Postoperative: After surgery. [NIH] Postsynaptic: Nerve potential generated by an inhibitory hyperpolarizing stimulation. [NIH] Post-translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Potentiation: An overall effect of two drugs taken together which is greater than the sum of the effects of each drug taken alone. [NIH] Practice Guidelines: Directions or principles presenting current or future rules of policy for the health care practitioner to assist him in patient care decisions regarding diagnosis, therapy, or related clinical circumstances. The guidelines may be developed by government agencies at any level, institutions, professional societies, governing boards, or by the convening of expert panels. The guidelines form a basis for the evaluation of all aspects of health care and delivery. [NIH] Precursor: Something that precedes. In biological processes, a substance from which another, usually more active or mature substance is formed. In clinical medicine, a sign or symptom that heralds another. [EU] Prenatal: Existing or occurring before birth, with reference to the fetus. [EU] Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation embryo, fetus, or pregnant female before birth. [NIH]

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Prevalence: The total number of cases of a given disease in a specified population at a designated time. It is differentiated from incidence, which refers to the number of new cases in the population at a given time. [NIH] Progesterone: Pregn-4-ene-3,20-dione. The principal progestational hormone of the body, secreted by the corpus luteum, adrenal cortex, and placenta. Its chief function is to prepare the uterus for the reception and development of the fertilized ovum. It acts as an antiovulatory agent when administered on days 5-25 of the menstrual cycle. [NIH] Progression: Increase in the size of a tumor or spread of cancer in the body. [NIH] Progressive: Advancing; going forward; going from bad to worse; increasing in scope or severity. [EU] Projection: A defense mechanism, operating unconsciously, whereby that which is emotionally unacceptable in the self is rejected and attributed (projected) to others. [NIH] Promoter: A chemical substance that increases the activity of a carcinogenic process. [NIH] Prone: Having the front portion of the body downwards. [NIH] Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific proteinbinding measures are often used as assays in diagnostic assessments. [NIH] Protein C: A vitamin-K dependent zymogen present in the blood, which, upon activation by thrombin and thrombomodulin exerts anticoagulant properties by inactivating factors Va and VIIIa at the rate-limiting steps of thrombin formation. [NIH] Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. Quaternary protein structure describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain). [NIH] Protein Folding: A rapid biochemical reaction involved in the formation of proteins. It begins even before a protein has been completely synthesized and proceeds through discrete intermediates (primary, secondary, and tertiary structures) before the final structure (quaternary structure) is developed. [NIH] Protein S: The vitamin K-dependent cofactor of activated protein C. Together with protein C, it inhibits the action of factors VIIIa and Va. A deficiency in protein S can lead to recurrent venous and arterial thrombosis. [NIH] Proteins: Polymers of amino acids linked by peptide bonds. The specific sequence of amino acids determines the shape and function of the protein. [NIH] Protocol: The detailed plan for a clinical trial that states the trial's rationale, purpose, drug or vaccine dosages, length of study, routes of administration, who may participate, and other aspects of trial design. [NIH] Proton Pump: Integral membrane proteins that transport protons across a membrane against a concentration gradient. This transport is driven by hydrolysis of ATP by H(+)transporting ATP synthase. [NIH] Protons: Stable elementary particles having the smallest known positive charge, found in the nuclei of all elements. The proton mass is less than that of a neutron. A proton is the nucleus of the light hydrogen atom, i.e., the hydrogen ion. [NIH] Proviruses: Duplex DNA sequences in eukaryotic chromosomes, corresponding to the genome of a virus, that are transmitted from one cell generation to the next without causing lysis of the host. Proviruses are often associated with neoplastic cell transformation and are key features of retrovirus biology. [NIH]

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Proximal: Nearest; closer to any point of reference; opposed to distal. [EU] Psychic: Pertaining to the psyche or to the mind; mental. [EU] Psychosis: A mental disorder characterized by gross impairment in reality testing as evidenced by delusions, hallucinations, markedly incoherent speech, or disorganized and agitated behaviour without apparent awareness on the part of the patient of the incomprehensibility of his behaviour; the term is also used in a more general sense to refer to mental disorders in which mental functioning is sufficiently impaired as to interfere grossly with the patient's capacity to meet the ordinary demands of life. Historically, the term has been applied to many conditions, e.g. manic-depressive psychosis, that were first described in psychotic patients, although many patients with the disorder are not judged psychotic. [EU] Ptosis: 1. Prolapse of an organ or part. 2. Drooping of the upper eyelid from paralysis of the third nerve or from sympathetic innervation. [EU] Public Health: Branch of medicine concerned with the prevention and control of disease and disability, and the promotion of physical and mental health of the population on the international, national, state, or municipal level. [NIH] Public Policy: A course or method of action selected, usually by a government, from among alternatives to guide and determine present and future decisions. [NIH] Publishing: "The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing. [NIH]

Pulmonary: Relating to the lungs. [NIH] Pulmonary Fibrosis: Chronic inflammation and progressive fibrosis of the pulmonary alveolar walls, with steadily progressive dyspnea, resulting finally in death from oxygen lack or right heart failure. [NIH] Pulse: The rhythmical expansion and contraction of an artery produced by waves of pressure caused by the ejection of blood from the left ventricle of the heart as it contracts. [NIH]

Pupil: The aperture in the iris through which light passes. [NIH] Quaternary: 1. Fourth in order. 2. Containing four elements or groups. [EU] Quiescent: Marked by a state of inactivity or repose. [EU] Race: A population within a species which exhibits general similarities within itself, but is both discontinuous and distinct from other populations of that species, though not sufficiently so as to achieve the status of a taxon. [NIH] Radiation: Emission or propagation of electromagnetic energy (waves/rays), or the waves/rays themselves; a stream of electromagnetic particles (electrons, neutrons, protons, alpha particles) or a mixture of these. The most common source is the sun. [NIH] Radiation therapy: The use of high-energy radiation from x-rays, gamma rays, neutrons, and other sources to kill cancer cells and shrink tumors. Radiation may come from a machine outside the body (external-beam radiation therapy), or it may come from radioactive material placed in the body in the area near cancer cells (internal radiation therapy, implant radiation, or brachytherapy). Systemic radiation therapy uses a radioactive substance, such as a radiolabeled monoclonal antibody, that circulates throughout the body. Also called radiotherapy. [NIH] Radioactive: Giving off radiation. [NIH] Reality Testing: The individual's objective evaluation of the external world and the ability

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to differentiate adequately between it and the internal world; considered to be a primary ego function. [NIH] Receptor: A molecule inside or on the surface of a cell that binds to a specific substance and causes a specific physiologic effect in the cell. [NIH] Receptors, Serotonin: Cell-surface proteins that bind serotonin and trigger intracellular changes which influence the behavior of cells. Several types of serotonin receptors have been recognized which differ in their pharmacology, molecular biology, and mode of action. [NIH] Recombinant: A cell or an individual with a new combination of genes not found together in either parent; usually applied to linked genes. [EU] Recombination: The formation of new combinations of genes as a result of segregation in crosses between genetically different parents; also the rearrangement of linked genes due to crossing-over. [NIH] Rectum: The last 8 to 10 inches of the large intestine. [NIH] Red Nucleus: A pinkish-yellow portion of the midbrain situated in the rostral mesencephalic tegmentum. It receives a large projection from the contralateral half of the cerebellum via the superior cerebellar peduncle and a projection from the ipsilateral motor cortex. [NIH] Refer: To send or direct for treatment, aid, information, de decision. [NIH] Reflex: An involuntary movement or exercise of function in a part, excited in response to a stimulus applied to the periphery and transmitted to the brain or spinal cord. [NIH] Refraction: A test to determine the best eyeglasses or contact lenses to correct a refractive error (myopia, hyperopia, or astigmatism). [NIH] Refractive Errors: Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus. [NIH] Refractive Power: The ability of an object, such as the eye, to bend light as light passes through it. [NIH] Reperfusion: Restoration of blood supply to tissue which is ischemic due to decrease in normal blood supply. The decrease may result from any source including atherosclerotic obstruction, narrowing of the artery, or surgical clamping. It is primarily a procedure for treating infarction or other ischemia, by enabling viable ischemic tissue to recover, thus limiting further necrosis. However, it is thought that reperfusion can itself further damage the ischemic tissue, causing reperfusion injury. [NIH] Reperfusion Injury: Functional, metabolic, or structural changes, including necrosis, in ischemic tissues thought to result from reperfusion to ischemic areas of the tissue. The most common instance is myocardial reperfusion injury. [NIH] Resorption: The loss of substance through physiologic or pathologic means, such as loss of dentin and cementum of a tooth, or of the alveolar process of the mandible or maxilla. [EU] Reticular: Coarse-fibered, netlike dermis layer. [NIH] Reticulocytes: Immature erythrocytes. In humans, these are erythroid cells that have just undergone extrusion of their cell nucleus. They still contain some organelles that gradually decrease in number as the cells mature. ribosomes are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the endoplasmic reticulum), hence the name reticulocytes. [NIH] Retina: The ten-layered nervous tissue membrane of the eye. It is continuous with the optic nerve and receives images of external objects and transmits visual impulses to the brain. Its outer surface is in contact with the choroid and the inner surface with the vitreous body. The

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outer-most layer is pigmented, whereas the inner nine layers are transparent. [NIH] Retinal: 1. Pertaining to the retina. 2. The aldehyde of retinol, derived by the oxidative enzymatic splitting of absorbed dietary carotene, and having vitamin A activity. In the retina, retinal combines with opsins to form visual pigments. One isomer, 11-cis retinal combines with opsin in the rods (scotopsin) to form rhodopsin, or visual purple. Another, all-trans retinal (trans-r.); visual yellow; xanthopsin) results from the bleaching of rhodopsin by light, in which the 11-cis form is converted to the all-trans form. Retinal also combines with opsins in the cones (photopsins) to form the three pigments responsible for colour vision. Called also retinal, and retinene1. [EU] Retinal Ganglion Cells: Cells of the innermost nuclear layer of the retina, the ganglion cell layer, which project axons through the optic nerve to the brain. They are quite variable in size and in the shapes of their dendritic arbors, which are generally confined to the inner plexiform layer. [NIH] Retinal pigment epithelium: The pigment cell layer that nourishes the retinal cells; located just outside the retina and attached to the choroid. [NIH] Retinitis: Inflammation of the retina. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (chorioretinitis) and of the optic nerve (neuroretinitis). The disease may be confined to one eye, but since it is generally dependent on a constitutional factor, it is almost always bilateral. It may be acute in course, but as a rule it lasts many weeks or even several months. [NIH] Retinitis Pigmentosa: Hereditary, progressive degeneration of the neuroepithelium of the retina characterized by night blindness and progressive contraction of the visual field. [NIH] Retinol: Vitamin A. It is essential for proper vision and healthy skin and mucous membranes. Retinol is being studied for cancer prevention; it belongs to the family of drugs called retinoids. [NIH] Retinopathy: 1. Retinitis (= inflammation of the retina). 2. Retinosis (= degenerative, noninflammatory condition of the retina). [EU] Retrograde: 1. Moving backward or against the usual direction of flow. 2. Degenerating, deteriorating, or catabolic. [EU] Retrovirus: A member of a group of RNA viruses, the RNA of which is copied during viral replication into DNA by reverse transcriptase. The viral DNA is then able to be integrated into the host chromosomal DNA. [NIH] Ribonuclease: RNA-digesting enzyme. [NIH] Rod: A reception for vision, located in the retina. [NIH] Rubella: An acute, usually benign, infectious disease caused by a togavirus and most often affecting children and nonimmune young adults, in which the virus enters the respiratory tract via droplet nuclei and spreads to the lymphatic system. It is characterized by a slight cold, sore throat, and fever, followed by enlargement of the postauricular, suboccipital, and cervical lymph nodes, and the appearances of a fine pink rash that begins on the head and spreads to become generalized. Called also German measles, roetln, röteln, and three-day measles, and rubeola in French and Spanish. [EU] Salivary: The duct that convey saliva to the mouth. [NIH] Salivary glands: Glands in the mouth that produce saliva. [NIH] Saponins: Sapogenin glycosides. A type of glycoside widely distributed in plants. Each consists of a sapogenin as the aglycon moiety, and a sugar. The sapogenin may be a steroid or a triterpene and the sugar may be glucose, galactose, a pentose, or a methylpentose. Sapogenins are poisonous towards the lower forms of life and are powerful hemolytics

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when injected into the blood stream able to dissolve red blood cells at even extreme dilutions. [NIH] Schizophrenia: A mental disorder characterized by a special type of disintegration of the personality. [NIH] Screening: Checking for disease when there are no symptoms. [NIH] Secretion: 1. The process of elaborating a specific product as a result of the activity of a gland; this activity may range from separating a specific substance of the blood to the elaboration of a new chemical substance. 2. Any substance produced by secretion. [EU] Segregation: The separation in meiotic cell division of homologous chromosome pairs and their contained allelomorphic gene pairs. [NIH] Seizures: Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as epilepsy or "seizure disorder." [NIH] Selenium: An element with the atomic symbol Se, atomic number 34, and atomic weight 78.96. It is an essential micronutrient for mammals and other animals but is toxic in large amounts. Selenium protects intracellular structures against oxidative damage. It is an essential component of glutathione peroxidase. [NIH] Sensor: A device designed to respond to physical stimuli such as temperature, light, magnetism or movement and transmit resulting impulses for interpretation, recording, movement, or operating control. [NIH] Sequence Analysis: A multistage process that includes the determination of a sequence (protein, carbohydrate, etc.), its fragmentation and analysis, and the interpretation of the resulting sequence information. [NIH] Sequencing: The determination of the order of nucleotides in a DNA or RNA chain. [NIH] Serotonin: A biochemical messenger and regulator, synthesized from the essential amino acid L-tryptophan. In humans it is found primarily in the central nervous system, gastrointestinal tract, and blood platelets. Serotonin mediates several important physiological functions including neurotransmission, gastrointestinal motility, hemostasis, and cardiovascular integrity. Multiple receptor families (receptors, serotonin) explain the broad physiological actions and distribution of this biochemical mediator. [NIH] Serum: The clear liquid part of the blood that remains after blood cells and clotting proteins have been removed. [NIH] Sex Determination: The biological characteristics which distinguish human beings as female or male. [NIH] Sharpness: The apparent blurring of the border between two adjacent areas of a radiograph having different optical densities. [NIH] Shock: The general bodily disturbance following a severe injury; an emotional or moral upset occasioned by some disturbing or unexpected experience; disruption of the circulation, which can upset all body functions: sometimes referred to as circulatory shock. [NIH]

Signal Transduction: The intercellular or intracellular transfer of information (biological activation/inhibition) through a signal pathway. In each signal transduction system, an activation/inhibition signal from a biologically active molecule (hormone, neurotransmitter) is mediated via the coupling of a receptor/enzyme to a second messenger system or to an ion channel. Signal transduction plays an important role in activating cellular functions, cell differentiation, and cell proliferation. Examples of signal transduction systems are the

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GABA-postsynaptic receptor-calcium ion channel system, the receptor-mediated T-cell activation pathway, and the receptor-mediated activation of phospholipases. Those coupled to membrane depolarization or intracellular release of calcium include the receptormediated activation of cytotoxic functions in granulocytes and the synaptic potentiation of protein kinase activation. Some signal transduction pathways may be part of larger signal transduction pathways; for example, protein kinase activation is part of the platelet activation signal pathway. [NIH] Skeleton: The framework that supports the soft tissues of vertebrate animals and protects many of their internal organs. The skeletons of vertebrates are made of bone and/or cartilage. [NIH] Skull: The skeleton of the head including the bones of the face and the bones enclosing the brain. [NIH] Small intestine: The part of the digestive tract that is located between the stomach and the large intestine. [NIH] Social Support: Support systems that provide assistance and encouragement to individuals with physical or emotional disabilities in order that they may better cope. Informal social support is usually provided by friends, relatives, or peers, while formal assistance is provided by churches, groups, etc. [NIH] Soft tissue: Refers to muscle, fat, fibrous tissue, blood vessels, or other supporting tissue of the body. [NIH] Solvent: 1. Dissolving; effecting a solution. 2. A liquid that dissolves or that is capable of dissolving; the component of a solution that is present in greater amount. [EU] Soma: The body as distinct from the mind; all the body tissue except the germ cells; all the axial body. [NIH] Somatic: 1. Pertaining to or characteristic of the soma or body. 2. Pertaining to the body wall in contrast to the viscera. [EU] Specialist: In medicine, one who concentrates on 1 special branch of medical science. [NIH] Species: A taxonomic category subordinate to a genus (or subgenus) and superior to a subspecies or variety, composed of individuals possessing common characters distinguishing them from other categories of individuals of the same taxonomic level. In taxonomic nomenclature, species are designated by the genus name followed by a Latin or Latinized adjective or noun. [EU] Specificity: Degree of selectivity shown by an antibody with respect to the number and types of antigens with which the antibody combines, as well as with respect to the rates and the extents of these reactions. [NIH] Spectrum: A charted band of wavelengths of electromagnetic vibrations obtained by refraction and diffraction. By extension, a measurable range of activity, such as the range of bacteria affected by an antibiotic (antibacterial s.) or the complete range of manifestations of a disease. [EU] Sperm: The fecundating fluid of the male. [NIH] Spermatogenesis: Process of formation and development of spermatozoa, including spermatocytogenesis and spermiogenesis. [NIH] Spermatozoa: Mature male germ cells that develop in the seminiferous tubules of the testes. Each consists of a head, a body, and a tail that provides propulsion. The head consists mainly of chromatin. [NIH] Spinal cord: The main trunk or bundle of nerves running down the spine through holes in

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the spinal bone (the vertebrae) from the brain to the level of the lower back. [NIH] Squamous: Scaly, or platelike. [EU] Squamous cell carcinoma: Cancer that begins in squamous cells, which are thin, flat cells resembling fish scales. Squamous cells are found in the tissue that forms the surface of the skin, the lining of the hollow organs of the body, and the passages of the respiratory and digestive tracts. Also called epidermoid carcinoma. [NIH] Squamous cell carcinoma: Cancer that begins in squamous cells, which are thin, flat cells resembling fish scales. Squamous cells are found in the tissue that forms the surface of the skin, the lining of the hollow organs of the body, and the passages of the respiratory and digestive tracts. Also called epidermoid carcinoma. [NIH] Squamous cells: Flat cells that look like fish scales under a microscope. These cells cover internal and external surfaces of the body. [NIH] Stem cell transplantation: A method of replacing immature blood-forming cells that were destroyed by cancer treatment. The stem cells are given to the person after treatment to help the bone marrow recover and continue producing healthy blood cells. [NIH] Stem Cells: Relatively undifferentiated cells of the same lineage (family type) that retain the ability to divide and cycle throughout postnatal life to provide cells that can become specialized and take the place of those that die or are lost. [NIH] Stereoscopic: Accurate depth perception in the presence of binocular single vision, due to the slight disparity in the two retinal images of the same object. [NIH] Sterile: Unable to produce children. [NIH] Steroid: A group name for lipids that contain a hydrogenated cyclopentanoperhydrophenanthrene ring system. Some of the substances included in this group are progesterone, adrenocortical hormones, the gonadal hormones, cardiac aglycones, bile acids, sterols (such as cholesterol), toad poisons, saponins, and some of the carcinogenic hydrocarbons. [EU] Steroid therapy: Treatment with corticosteroid drugs to reduce swelling, pain, and other symptoms of inflammation. [NIH] Stimulus: That which can elicit or evoke action (response) in a muscle, nerve, gland or other excitable issue, or cause an augmenting action upon any function or metabolic process. [NIH] Stomach: An organ of digestion situated in the left upper quadrant of the abdomen between the termination of the esophagus and the beginning of the duodenum. [NIH] Strabismus: Deviation of the eye which the patient cannot overcome. The visual axes assume a position relative to each other different from that required by the physiological conditions. The various forms of strabismus are spoken of as tropias, their direction being indicated by the appropriate prefix, as cyclo tropia, esotropia, exotropia, hypertropia, and hypotropia. Called also cast, heterotropia, manifest deviation, and squint. [EU] Strand: DNA normally exists in the bacterial nucleus in a helix, in which two strands are coiled together. [NIH] Stress: Forcibly exerted influence; pressure. Any condition or situation that causes strain or tension. Stress may be either physical or psychologic, or both. [NIH] Stricture: The abnormal narrowing of a body opening. Also called stenosis. [NIH] Stroke: Sudden loss of function of part of the brain because of loss of blood flow. Stroke may be caused by a clot (thrombosis) or rupture (hemorrhage) of a blood vessel to the brain. [NIH] Stroma: The middle, thickest layer of tissue in the cornea. [NIH] Subarachnoid: Situated or occurring between the arachnoid and the pia mater. [EU]

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Subclinical: Without clinical manifestations; said of the early stage(s) of an infection or other disease or abnormality before symptoms and signs become apparent or detectable by clinical examination or laboratory tests, or of a very mild form of an infection or other disease or abnormality. [EU] Subspecies: A category intermediate in rank between species and variety, based on a smaller number of correlated characters than are used to differentiate species and generally conditioned by geographical and/or ecological occurrence. [NIH] Substrate: A substance upon which an enzyme acts. [EU] Sun protection factor: SPF. A scale for rating the level of sunburn protection in sunscreen products. The higher the SPF, the more sunburn protection it provides. Sunscreens with an SPF value of 2 through 11 provide minimal protection against sunburns. Sunscreens with an SPF of 12 through 29 provide moderate protection, which is adequate for most people. Those with an SPF of 30 or higher provide high protection against sunburn and are sometimes recommended for people who are highly sensitive to the sun. [NIH] Sunburn: An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight. [NIH] Support group: A group of people with similar disease who meet to discuss how better to cope with their cancer and treatment. [NIH] Synapses: Specialized junctions at which a neuron communicates with a target cell. At classical synapses, a neuron's presynaptic terminal releases a chemical transmitter stored in synaptic vesicles which diffuses across a narrow synaptic cleft and activates receptors on the postsynaptic membrane of the target cell. The target may be a dendrite, cell body, or axon of another neuron, or a specialized region of a muscle or secretory cell. Neurons may also communicate through direct electrical connections which are sometimes called electrical synapses; these are not included here but rather in gap junctions. [NIH] Synaptic: Pertaining to or affecting a synapse (= site of functional apposition between neurons, at which an impulse is transmitted from one neuron to another by electrical or chemical means); pertaining to synapsis (= pairing off in point-for-point association of homologous chromosomes from the male and female pronuclei during the early prophase of meiosis). [EU] Systemic: Affecting the entire body. [NIH] Systemic disease: Disease that affects the whole body. [NIH] Systemic lupus erythematosus: SLE. A chronic inflammatory connective tissue disease marked by skin rashes, joint pain and swelling, inflammation of the kidneys, inflammation of the fibrous tissue surrounding the heart (i.e., the pericardium), as well as other problems. Not all affected individuals display all of these problems. May be referred to as lupus. [NIH] Temporal: One of the two irregular bones forming part of the lateral surfaces and base of the skull, and containing the organs of hearing. [NIH] Terminator: A DNA sequence sited at the end of a transcriptional unit that signals the end of transcription. [NIH] Tetany: 1. Hyperexcitability of nerves and muscles due to decrease in concentration of extracellular ionized calcium, which may be associated with such conditions as parathyroid hypofunction, vitamin D deficiency, and alkalosis or result from ingestion of alkaline salts; it is characterized by carpopedal spasm, muscular twitching and cramps, laryngospasm with inspiratory stridor, hyperreflexia and choreiform movements. 2. Tetanus. [EU] Thalamic: Cell that reaches the lateral nucleus of amygdala. [NIH]

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Thalamic Diseases: Disorders of the centrally located thalamus, which integrates a wide range of cortical and subcortical information. Manifestations include sensory loss, movement disorders; ataxia, pain syndromes, visual disorders, a variety of neuropsychological conditions, and coma. Relatively common etiologies include cerebrovascular disorders; craniocerebral trauma; brain neoplasms; brain hypoxia; intracranial hemorrhages; and infectious processes. [NIH] Thalassemia: A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia. [NIH] Thrombin: An enzyme formed from prothrombin that converts fibrinogen to fibrin. (Dorland, 27th ed) EC 3.4.21.5. [NIH] Thrombomodulin: A cell surface glycoprotein of endothelial cells that binds thrombin and serves as a cofactor in the activation of protein C and its regulation of blood coagulation. [NIH]

Thrombosis: The formation or presence of a blood clot inside a blood vessel. [NIH] Thyroid: A gland located near the windpipe (trachea) that produces thyroid hormone, which helps regulate growth and metabolism. [NIH] Thyroid Gland: A highly vascular endocrine gland consisting of two lobes, one on either side of the trachea, joined by a narrow isthmus; it produces the thyroid hormones which are concerned in regulating the metabolic rate of the body. [NIH] Tissue: A group or layer of cells that are alike in type and work together to perform a specific function. [NIH] Tissue Distribution: Accumulation of a drug or chemical substance in various organs (including those not relevant to its pharmacologic or therapeutic action). This distribution depends on the blood flow or perfusion rate of the organ, the ability of the drug to penetrate organ membranes, tissue specificity, protein binding. The distribution is usually expressed as tissue to plasma ratios. [NIH] Tomography: Imaging methods that result in sharp images of objects located on a chosen plane and blurred images located above or below the plane. [NIH] Toxic: Having to do with poison or something harmful to the body. Toxic substances usually cause unwanted side effects. [NIH] Toxicology: The science concerned with the detection, chemical composition, and pharmacologic action of toxic substances or poisons and the treatment and prevention of toxic manifestations. [NIH] Toxins: Specific, characterizable, poisonous chemicals, often proteins, with specific biological properties, including immunogenicity, produced by microbes, higher plants, or animals. [NIH] Transduction: The transfer of genes from one cell to another by means of a viral (in the case of bacteria, a bacteriophage) vector or a vector which is similar to a virus particle (pseudovirion). [NIH] Transfection: The uptake of naked or purified DNA into cells, usually eukaryotic. It is analogous to bacterial transformation. [NIH] Transferases: Transferases are enzymes transferring a group, for example, the methyl group or a glycosyl group, from one compound (generally regarded as donor) to another compound (generally regarded as acceptor). The classification is based on the scheme "donor:acceptor group transferase". (Enzyme Nomenclature, 1992) EC 2. [NIH]

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Transillumination: Passage of light through body tissues or cavities for examination of internal structures. [NIH] Translation: The process whereby the genetic information present in the linear sequence of ribonucleotides in mRNA is converted into a corresponding sequence of amino acids in a protein. It occurs on the ribosome and is unidirectional. [NIH] Translational: The cleavage of signal sequence that directs the passage of the protein through a cell or organelle membrane. [NIH] Translocation: The movement of material in solution inside the body of the plant. [NIH] Transplantation: Transference of a tissue or organ, alive or dead, within an individual, between individuals of the same species, or between individuals of different species. [NIH] Trauma: Any injury, wound, or shock, must frequently physical or structural shock, producing a disturbance. [NIH] Trophoblast: The outer layer of cells of the blastocyst which works its way into the endometrium during ovum implantation and grows rapidly, later combining with mesoderm. [NIH] Tryptophan: An essential amino acid that is necessary for normal growth in infants and for nitrogen balance in adults. It is a precursor serotonin and niacin. [NIH] Tuberculosis: Any of the infectious diseases of man and other animals caused by species of Mycobacterium. [NIH] Tumour: 1. Swelling, one of the cardinal signs of inflammations; morbid enlargement. 2. A new growth of tissue in which the multiplication of cells is uncontrolled and progressive; called also neoplasm. [EU] Tyrosine: A non-essential amino acid. In animals it is synthesized from phenylalanine. It is also the precursor of epinephrine, thyroid hormones, and melanin. [NIH] Ubiquitin: A highly conserved 76 amino acid-protein found in all eukaryotic cells. [NIH] Unconscious: Experience which was once conscious, but was subsequently rejected, as the "personal unconscious". [NIH] Urethra: The tube through which urine leaves the body. It empties urine from the bladder. [NIH]

Urinary: Having to do with urine or the organs of the body that produce and get rid of urine. [NIH] Urine: Fluid containing water and waste products. Urine is made by the kidneys, stored in the bladder, and leaves the body through the urethra. [NIH] Uterus: The small, hollow, pear-shaped organ in a woman's pelvis. This is the organ in which a fetus develops. Also called the womb. [NIH] Vaccine: A substance or group of substances meant to cause the immune system to respond to a tumor or to microorganisms, such as bacteria or viruses. [NIH] Vacuoles: Any spaces or cavities within a cell. They may function in digestion, storage, secretion, or excretion. [NIH] Vagina: The muscular canal extending from the uterus to the exterior of the body. Also called the birth canal. [NIH] Vascular: Pertaining to blood vessels or indicative of a copious blood supply. [EU] Vector: Plasmid or other self-replicating DNA molecule that transfers DNA between cells in nature or in recombinant DNA technology. [NIH] Vein: Vessel-carrying blood from various parts of the body to the heart. [NIH]

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Venous: Of or pertaining to the veins. [EU] Ventricles: Fluid-filled cavities in the heart or brain. [NIH] Ventricular: Pertaining to a ventricle. [EU] Vesicular: 1. Composed of or relating to small, saclike bodies. 2. Pertaining to or made up of vesicles on the skin. [EU] Veterinary Medicine: The medical science concerned with the prevention, diagnosis, and treatment of diseases in animals. [NIH] Villi: The tiny, fingerlike projections on the surface of the small intestine. Villi help absorb nutrients. [NIH] Viral: Pertaining to, caused by, or of the nature of virus. [EU] Virus: Submicroscopic organism that causes infectious disease. In cancer therapy, some viruses may be made into vaccines that help the body build an immune response to, and kill, tumor cells. [NIH] Viscera: Any of the large interior organs in any one of the three great cavities of the body, especially in the abdomen. [NIH] Visual Acuity: Acuteness or clearness of vision, especially of form vision, which is dependent mainly on the sharpness of the retinal focus. [NIH] Visual Cortex: Area of the occipital lobe concerned with vision. [NIH] Visual field: The entire area that can be seen when the eye is forward, including peripheral vision. [NIH] Visual Pathways: Set of cell bodies and nerve fibers conducting impulses from the eyes to the cerebral cortex. It includes the retina, optic nerve, optic tract, and geniculocalcarine tract. [NIH]

Vital Capacity: The volume of air that is exhaled by a maximal expiration following a maximal inspiration. [NIH] Vitiligo: A disorder consisting of areas of macular depigmentation, commonly on extensor aspects of extremities, on the face or neck, and in skin folds. Age of onset is often in young adulthood and the condition tends to progress gradually with lesions enlarging and extending until a quiescent state is reached. [NIH] Vitreous Body: The transparent, semigelatinous substance that fills the cavity behind the crystalline lens of the eye and in front of the retina. It is contained in a thin hyoid membrane and forms about four fifths of the optic globe. [NIH] Vitreous Humor: The transparent, colorless mass of gel that lies behind the lens and in front of the retina and fills the center of the eyeball. [NIH] Vitro: Descriptive of an event or enzyme reaction under experimental investigation occurring outside a living organism. Parts of an organism or microorganism are used together with artificial substrates and/or conditions. [NIH] Vivo: Outside of or removed from the body of a living organism. [NIH] Xenograft: The cells of one species transplanted to another species. [NIH] Xerostomia: Decreased salivary flow. [NIH] X-ray: High-energy radiation used in low doses to diagnose diseases and in high doses to treat cancer. [NIH] Yeasts: A general term for single-celled rounded fungi that reproduce by budding. Brewers' and bakers' yeasts are Saccharomyces cerevisiae; therapeutic dried yeast is dried yeast. [NIH]

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Zygote: The fertilized ovum. [NIH] Zymogen: Inactive form of an enzyme which can then be converted to the active form, usually by excision of a polypeptide, e. g. trypsinogen is the zymogen of trypsin. [NIH]

181

INDEX 3 3-dimensional, 8, 137, 169 A Abdomen, 137, 142, 158, 159, 175, 179 Aberrant, 4, 27, 104, 137 Acceptor, 137, 166, 177 Accommodation, 137, 163 Acidosis, 46, 137 Acoustic, 137, 145 Acuity, 45, 78, 123, 137, 140 Adaptation, 137, 148, 165 Adverse Effect, 137, 138 Aerobic, 17, 137, 162, 166 Aerobic Metabolism, 17, 137, 166 Aerobic Respiration, 137, 166 Agenesis, 25, 69, 137 Albinism, Ocular, 55, 98, 137 Algorithms, 138, 141 Alkaline, 137, 138, 142, 176 Alleles, 138, 155, 159 Allylamine, 138 Alpha Particles, 138, 170 Alternative medicine, 106, 138 Amblyopia, 75, 104, 138 Amenorrhea, 138, 139 Amine, 17, 138 Amino Acid Sequence, 14, 138, 139, 151 Amino Acid Substitution, 6, 138 Amino Acids, 138, 145, 166, 168, 169, 178 Ammonia, 138, 154 Analogous, 139, 177 Anatomical, 139, 157 Anemia, 46, 139, 151, 177 Anesthesia, 103, 139 Animal model, 9, 13, 139 Aniridia, 103, 139 Anomalies, 54, 62, 78, 104, 139 Anorexia, 37, 139 Anorexia Nervosa, 37, 139 Anterior chamber, 139, 158 Anterograde, 19, 139 Antibacterial, 139, 165, 174 Antibiotic, 139, 142, 158, 164, 174 Antibodies, 14, 139, 160, 162, 168 Antibody, 139, 141, 145, 155, 157, 161, 162, 170, 174 Anticoagulant, 139, 169 Antigen, 10, 139, 145, 155, 157, 161

Antiseptic, 139, 143 Aphakia, 104, 140 Aponeurosis, 140, 153 Aqueous, 140, 147, 159 Arginine, 53, 140 Arterial, 138, 140, 143, 169 Arteries, 140, 141, 146, 162 Assay, 38, 140 Astringent, 140, 143 Ataxia, 35, 140, 143, 156, 177 Attenuated, 140, 149 Audiometry, 90, 140 Auditory, 87, 88, 103, 140, 151, 154 Axonal, 19, 140 Axons, 9, 19, 140, 154, 164, 165, 172 B Bacteria, 139, 140, 154, 162, 165, 174, 177, 178 Bacteriophage, 140, 177 Basal Ganglia, 140, 142, 152 Basal Ganglia Diseases, 140 Base, 9, 20, 24, 47, 52, 53, 140, 141, 148, 152, 158, 168, 176 Base Sequence, 141, 152 Benign, 141, 142, 152, 155, 164, 172 Bilateral, 34, 39, 141, 172 Bile, 141, 152, 159, 175 Bile Acids, 141, 175 Biochemical, 4, 5, 7, 11, 15, 34, 44, 47, 63, 72, 76, 84, 98, 138, 141, 152, 154, 159, 169, 173 Biogenesis, 7, 13, 15, 16, 17, 141 Biopsy, 80, 141 Biosynthesis, 6, 10, 11, 14, 17, 141 Biotechnology, 19, 21, 102, 106, 113, 141 Bladder, 141, 152, 157, 178 Blastocyst, 5, 141, 178 Blepharoptosis, 104, 141 Blood Coagulation, 141, 142, 177 Blood Platelets, 141, 173 Blood vessel, 141, 142, 155, 158, 160, 167, 174, 175, 177, 178 Blot, 141, 157 Blotting, Western, 141, 157 Body Image, 70, 141 Bone Conduction, 140, 141 Bone Density, 60, 141 Bone Marrow, 29, 63, 142, 160, 175

182 Albinism

Bowel, 70, 142, 148, 158 Bowel Movement, 142, 148 Brain Neoplasms, 142, 156, 177 Branch, 133, 142, 150, 160, 166, 170, 174 Breakdown, 142, 148, 153, 165 Broad-spectrum, 142, 165 Buccal, 142, 160 Bullous, 57, 142 C Calcium, 84, 90, 103, 142, 145, 166, 174, 176 Carbohydrate, 142, 147, 154, 168, 173 Carcinogenic, 142, 157, 165, 169, 175 Carcinoma, 29, 142 Cardiac, 138, 142, 150, 163, 175 Cardiovascular, 142, 173 Carotene, 142, 172 Carrier State, 44, 98, 142 Case report, 29, 34, 42, 56, 143 Cataract, 65, 140, 143 Catechol, 4, 16, 143 Catechol Oxidase, 16, 143 Caudal, 143, 168 Cell Differentiation, 143, 153, 173 Cell Movement, 143, 153 Cell proliferation, 143, 173 Cell Respiration, 137, 143, 162, 166 Cell Size, 143, 152 Cell Transplantation, 143 Central Nervous System, 89, 142, 143, 151, 152, 153, 155, 156, 159, 165, 173 Central Nervous System Infections, 143, 155, 156 Cerebellar, 35, 140, 143, 171 Cerebellar Diseases, 140, 143 Cerebral, 140, 142, 143, 150, 152, 156, 179 Cerebral Infarction, 143, 156 Cerebrospinal, 144, 156 Cerebrospinal fluid, 144, 156 Ceroid, 12, 14, 97, 98, 144, 159 Cervical, 144, 172 Chimera, 5, 144 Chimeric Proteins, 10, 144 Cholesterol, 141, 144, 175 Chorioretinitis, 144, 172 Choroid, 144, 171, 172 Chromatin, 5, 144, 174 Chromosomal, 14, 20, 84, 144, 163, 172 Chromosomal Proteins, Non-Histone, 144 Chromosome, 13, 29, 36, 42, 48, 74, 75, 144, 155, 158, 159, 173 Chromosome Aberrations, 29, 144

Chronic, 89, 144, 157, 170, 176 Circadian, 27, 144 CIS, 144, 172 Clear cell carcinoma, 144, 148 Clinical trial, 3, 97, 99, 113, 144, 169 Cloning, 11, 12, 15, 36, 72, 141, 144, 157 Cochlea, 144, 145 Cochlear, 88, 89, 145 Cochlear Microphonic Potentials, 88, 145 Codon, 48, 145 Cofactor, 16, 145, 169, 177 Colitis, 12, 145 Collagen, 145, 152 Coloboma, 23, 145 Color blindness, 103, 145 Complement, 145, 146, 153, 158, 160 Complementary and alternative medicine, 87, 94, 145 Complementary medicine, 87, 146 Computational Biology, 113, 146 Concomitant, 104, 146 Conduction, 140, 146 Cone, 103, 146, 167 Confounding, 18, 146 Congenita, 41, 146 Conjugated, 146, 147 Conjunctiva, 146, 158 Connective Tissue, 142, 145, 146, 152, 160, 176 Constitutional, 146, 172 Constriction, 146, 158 Contraindications, ii, 146 Contralateral, 146, 165, 171 Cornea, 84, 139, 146, 158, 175 Corneum, 146, 150, 156 Coronary, 146, 162 Coronary Thrombosis, 146, 162 Corpus, 25, 47, 69, 146, 169 Corpus Callosum, 25, 47, 69, 146 Cortex, 138, 140, 146, 147, 151, 152, 169, 171, 179 Cortical, 64, 138, 147, 173, 177 Corticosteroid, 147, 175 Cranial, 147, 155, 158, 164, 165 Craniocerebral Trauma, 140, 147, 155, 156, 177 Crossing-over, 147, 171 Crystallization, 8, 147 Cues, 10, 147 Cutaneous, 15, 38, 51, 62, 147, 160 Cysteine, 14, 147 Cysteinyldopa, 42, 65, 147

Index 183

Cystine, 147 Cytochrome, 17, 147 Cytoplasm, 147, 154 Cytoskeleton, 7, 147 Cytotoxic, 148, 174 D Dark Adaptation, 89, 148 Databases, Bibliographic, 113, 148 Degenerative, 148, 172 Deletion, 18, 20, 22, 24, 25, 32, 38, 43, 48, 50, 64, 75, 79, 148, 153 Delusions, 148, 170 Dendrites, 148, 154, 164 Dendritic, 148, 161, 172 Density, 16, 141, 148, 152, 165 Depigmentation, 148, 179 Depolarization, 148, 174 Depressive Disorder, 148, 159 Deprivation, 88, 90, 138, 148 Depth Perception, 148, 175 DES, 85, 148 Diabetes Mellitus, 39, 41, 148, 153, 155 Diagnostic procedure, 106, 148 Diathesis, 14, 28, 63, 148 Diffusion, 148, 149 Digestion, 141, 142, 148, 158, 159, 175, 178 Digestive system, 99, 148 Digestive tract, 149, 174, 175 Dilation, 149, 156 Dilution, 20, 23, 47, 72, 73, 95, 149 Direct, iii, 4, 5, 8, 12, 15, 79, 89, 103, 149, 171, 176 Discrimination, 88, 149 Dislocation, 140, 149 Disparity, 149, 175 Dissection, 7, 149 Distal, 36, 140, 149, 170 Domesticated, 149, 154 Dopa, 40, 63, 66, 149, 159 Dorsal, 149, 164, 168 Dorsum, 149, 153 Drive, ii, vi, 83, 123, 149 Dyes, 103, 149, 152 Dysgenesis, 60, 61, 149 Dyspnea, 41, 149, 170 Dystrophy, 22, 25, 90, 103, 149 E Ectoderm, 5, 149, 164 Effector, 145, 149, 164 Effector cell, 149, 164 Elective, 21, 149 Electrons, 140, 149, 158, 166, 170

Electrophysiological, 22, 35, 150 Electroplating, 143, 150 Electroretinogram, 89, 150 Embryo, 5, 141, 143, 149, 150, 153, 163, 168 Emollient, 150, 154 Environmental Health, 112, 114, 150 Enzymatic, 142, 145, 147, 150, 172 Enzyme, 5, 8, 17, 138, 143, 149, 150, 152, 154, 172, 173, 176, 177, 179, 180 Epidermis, 146, 150, 156 Epidermoid carcinoma, 150, 175 Epinephrine, 150, 178 Epithelial, 150 Epithelial Cells, 150 Epithelium, 4, 150, 158 Erythema, 150, 176 Erythroblasts, 63, 150 Erythrocytes, 139, 142, 150, 171 Erythroid Progenitor Cells, 150 Erythropoiesis, 150 Esophagus, 148, 149, 151, 167, 175 Esotropia, 151, 175 Ethnic Groups, 56, 151 Eukaryotic Cells, 151, 166, 178 Evoked Potentials, 26, 35, 64, 71, 74, 78, 151 Excitation, 151, 152 Exon, 11, 12, 20, 79, 151 Exotropia, 151, 175 Expiration, 151, 179 Extensor, 151, 179 Extracellular, 146, 151, 152, 176 Extracellular Matrix, 146, 151, 152 Extraction, 140, 151 F Family Planning, 113, 151 Fat, 89, 97, 98, 142, 147, 151, 159, 174 Ferrets, 84, 151 Fetal Hemoglobin, 41, 151 Fetus, 151, 168, 178 Fibroblasts, 16, 152 Fibrosis, 98, 138, 152, 170 Fissure, 145, 146, 152 Flatus, 152, 153 Flow Cytometry, 32, 152 Fluorescence, 152 Fluorescent Dyes, 152 Fossa, 63, 152 Frameshift, 12, 75, 152 Frameshift Mutation, 75, 152 Fundus, 39, 58, 80, 152 Funduscopy, 80, 152

184 Albinism

G Galactose Oxidase, 17, 152 Gallbladder, 148, 152 Ganglia, 140, 152, 164 Ganglion, 4, 152, 164, 172 Gas, 17, 138, 148, 152, 153, 156, 165 Gastrin, 153, 156 Gastrointestinal, 150, 153, 173 Gastrointestinal tract, 153, 173 Gastrula, 5, 153 Gene Deletion, 59, 153 Gene Expression, 5, 9, 19, 153 Genetic Counseling, 77, 153 Genetic Engineering, 141, 144, 153 Genotype, 8, 31, 153, 167 Germ Layers, 149, 153 Gestation, 145, 153 Gland, 147, 153, 160, 166, 173, 175, 177 Glare, 124, 153 Glucose, 148, 153, 155, 172 Glucose Intolerance, 148, 153 Glutamate, 84, 153 Glutamic Acid, 153, 154 Glutamine, 53, 154 Glutathione Peroxidase, 154, 173 Glycerol, 25, 154, 167 Glycerol Kinase, 25, 154 Glycoprotein, 5, 6, 14, 21, 73, 154, 177 Glycosylation, 14, 73, 154 Gonadal, 154, 175 Gonads, 154, 156 Governing Board, 154, 168 Grafting, 154, 157 Gram-negative, 154, 165 Gram-positive, 154, 165 Granule, 14, 154 Granulocytes, 154, 174 Growth, 9, 139, 143, 154, 156, 160, 164, 168, 177, 178 Growth Cones, 9, 154 Guinea Pigs, 88, 89, 90, 154 H Hair Cells, 145, 154 Hair Color, 8, 154 Headache, 155, 156 Heart failure, 155, 170 Heme, 17, 147, 155 Hemoglobin, 139, 150, 151, 155, 177 Hemoglobin H, 151, 155 Hemolytic, 46, 155, 177 Hemorrhage, 12, 147, 155, 167, 175 Hemorrhaging, 11, 155

Hemostasis, 155, 173 Hereditary, 23, 46, 103, 139, 155, 172, 177 Heredity, 37, 60, 103, 153, 155 Heterogeneity, 15, 33, 46, 155 Heterotropia, 155, 175 Heterozygote, 80, 155 Homeotic, 5, 155 Homologous, 5, 8, 138, 147, 155, 173, 176 Homozygotes, 15, 18, 21, 155 Hormonal, 103, 147, 156 Hormone, 17, 20, 147, 148, 150, 153, 156, 161, 169, 173, 177 Host, 140, 142, 156, 169, 172 Hybrid, 7, 12, 14, 156 Hybridization, 19, 156 Hydrocephalus, 23, 156, 158 Hydrogen, 137, 138, 140, 142, 154, 156, 162, 164, 165, 166, 167, 169 Hydrolysis, 147, 156, 167, 168, 169 Hydroxylation, 16, 156 Hyperpigmentation, 6, 156 Hypertrophy, 156 Hypogonadism, 103, 156 Hypopigmentation, 6, 18, 20, 51, 91, 102, 122, 123, 124, 125, 126, 156 Hypoplasia, 6, 25, 37, 43, 156 I Ichthyosis, 32, 156 Id, 86, 92, 125, 132, 134, 156 Immune response, 10, 139, 147, 157, 160, 179 Immune system, 149, 157, 160, 178 Immunity, 26, 157 Immunoblotting, 14, 157 Immunodeficiency, 24, 25, 62, 63, 64, 85, 157 Immunofluorescence, 11, 157 Impairment, 18, 45, 68, 140, 157, 161, 170 Implantation, 65, 157, 178 In vitro, 5, 20, 84, 157 In vivo, 5, 9, 157 Incontinence, 156, 157 Indicative, 101, 157, 166, 178 Infancy, 157 Infantile, 78, 103, 157 Infarction, 143, 146, 157, 162, 171 Infection, 142, 157, 160, 176 Inflammation, 98, 144, 145, 152, 156, 157, 158, 161, 164, 168, 170, 172, 175, 176 Initiation, 5, 48, 157 Innervation, 157, 170 Insertional, 18, 157

Index 185

Insight, 8, 91, 158 Interspecific, 11, 158 Interstitial, 43, 158 Intestine, 97, 98, 142, 158, 159 Intracellular, 6, 10, 13, 16, 38, 59, 157, 158, 161, 171, 173 Intracellular Membranes, 158, 161 Intracranial Hemorrhages, 156, 158, 177 Intracranial Hypertension, 155, 156, 158 Intraocular, 65, 145, 158 Invasive, 157, 158, 160 Involuntary, 140, 158, 163, 171 Ion Channels, 158, 164 Ions, 140, 156, 158 Ipsilateral, 4, 158, 171 Iris, 37, 49, 67, 75, 80, 98, 136, 137, 139, 146, 158, 170 Ischemia, 84, 158, 171 K Kanamycin, 89, 91, 158 Karyotype, 71, 158 Kb, 59, 64, 75, 112, 158 Keratoconjunctivitis, 37, 158 Keratoconjunctivitis Sicca, 37, 158 Kilobase, 22, 158 L Lacrimal, 158, 159 Large Intestine, 148, 149, 158, 159, 171, 174 Lectin, 159, 161 Lens, 34, 50, 65, 140, 143, 146, 159, 179 Lesion, 159 Lethargy, 156, 159 Leukemia, 151, 159 Leukocytes, 142, 154, 159 Levo, 149, 159 Levodopa, 149, 159 Library Services, 132, 159 Ligands, 7, 15, 159 Linkage, 12, 35, 44, 45, 50, 51, 54, 65, 79, 159 Linkage Disequilibrium, 12, 159 Lipid, 48, 144, 154, 159 Lipofuscin, 12, 46, 97, 98, 144, 159 Lithium, 84, 159 Liver, 103, 141, 148, 152, 159 Localization, 9, 10, 11, 13, 14, 15, 50, 68, 159 Localized, 6, 21, 73, 157, 159, 167, 168 Low vision, 31, 123, 124, 160 Lupus, 62, 160, 176 Lupus Nephritis, 62, 160 Lymph, 144, 160, 172

Lymph node, 144, 160, 172 Lymphatic, 157, 160, 172 Lymphatic system, 160, 172 Lymphocyte, 139, 160, 161 Lymphoid, 139, 160 Lysosome, 10, 14, 16, 160 M Magnetic Resonance Imaging, 37, 160 Major Histocompatibility Complex, 10, 160 Malignancy, 38, 160 Malignant, 6, 50, 51, 142, 147, 160 Malnutrition, 160, 163 Manic, 159, 160, 170 Manic-depressive psychosis, 160, 170 Manifest, 140, 160, 175 Man-made, 143, 161 Medial, 151, 161, 165 Mediator, 149, 161, 173 MEDLINE, 113, 161 Melanin, 4, 6, 7, 10, 16, 19, 74, 103, 123, 136, 147, 148, 156, 158, 161, 167, 178 Melanoblasts, 161, 167 Melanocytes, 4, 6, 10, 13, 14, 15, 26, 42, 55, 85, 88, 102, 103, 156, 161, 164 Melanoma, 4, 6, 10, 14, 26, 31, 32, 41, 50, 51, 147, 161 Melanophores, 161 Melanosomes, 5, 6, 7, 10, 11, 14, 16, 21, 73, 88, 161 Membrane Glycoproteins, 6, 161 Membrane Proteins, 10, 16, 161, 169 Memory, 139, 161 Meninges, 143, 147, 161 Meningitis, 161, 167 Mental Disorders, 100, 161, 167, 170 Mental Health, iv, 3, 100, 112, 114, 161, 170 Mental Retardation, 103, 161 Mercury, 152, 162 Metastasis, 162 Metastatic, 32, 51, 142, 162 MI, 37, 42, 44, 46, 136, 162 Microorganism, 145, 162, 179 Microphthalmos, 104, 162 Microscopy, 47, 66, 162 Migration, 34, 47, 162, 167 Milliliter, 141, 162 Mitochondria, 162, 166 Mobility, 104, 162 Modification, 6, 75, 153, 162

186 Albinism

Molecule, 14, 139, 140, 145, 149, 151, 156, 157, 159, 162, 165, 166, 168, 171, 173, 178 Monitor, 162, 165 Monoclonal, 157, 162, 170 Monoclonal antibodies, 157, 162 Monogenic, 32, 163 Morphological, 14, 84, 150, 161, 163 Morphology, 19, 143, 163 Morula, 141, 163 Mosaicism, 49, 163 Motility, 163, 173 Mucinous, 153, 163 Mucosa, 160, 163 Muscle Fibers, 163 Muscular Atrophy, 71, 163 Muscular Dystrophies, 149, 163 Mutagenesis, 7, 18, 163 Mutagens, 152, 163 Myocardium, 162, 163 Myopia, 12, 103, 163, 171 N Nasal Cavity, 51, 163 Nasal Septum, 163 Natural selection, 141, 163 NCI, 1, 99, 111, 144, 163 Nearsightedness, 163 Necrosis, 143, 157, 162, 164, 171 Need, 9, 102, 124, 127, 137, 160, 164 Neomycin, 91, 164 Neoplastic, 164, 169 Nerve, 123, 139, 140, 148, 152, 154, 157, 161, 164, 165, 166, 168, 170, 175, 179 Nerve Fibers, 164, 179 Nervi, 46, 164 Nervous System, 10, 18, 143, 154, 161, 164 Networks, 126, 164 Neural, 18, 34, 161, 164, 167 Neural Crest, 34, 161, 164, 167 Neuroanatomy, 19, 164 Neurologic, 63, 156, 164 Neuronal, 31, 47, 84, 154, 164 Neurons, 148, 152, 159, 164, 176 Neuroretinitis, 164, 172 Neurotoxic, 26, 164 Neurotransmitters, 17, 164 Neutrons, 138, 164, 170 Nevus, 41, 164 Night Blindness, 19, 165, 172 Nitrogen, 138, 154, 165, 178 Nuclear, 9, 140, 150, 151, 152, 161, 164, 165, 172

Nuclei, 138, 150, 153, 160, 164, 165, 169, 172 Nucleic acid, 141, 156, 163, 165 Nucleic Acid Hybridization, 156, 165 Nucleus, 9, 140, 144, 147, 151, 164, 165, 169, 171, 175, 176 Nystagmus, 12, 13, 57, 62, 64, 77, 78, 91, 103, 104, 135, 137, 165 O Ofloxacin, 21, 165 Oncogenic, 8, 165 Oogenesis, 18, 165 Opacity, 143, 148, 165 Ophthalmic, 23, 29, 33, 35, 36, 38, 41, 48, 50, 56, 61, 62, 63, 68, 73, 78, 79, 80, 90, 91, 165 Ophthalmoscope, 152, 165 Opsin, 165, 172 Optic Chiasm, 19, 37, 165 Optic cup, 139, 165 Optic Nerve, 8, 10, 13, 68, 138, 164, 165, 171, 172, 179 Optic nerve head, 164, 165 Organelles, 6, 7, 11, 14, 16, 17, 147, 161, 166, 168, 171 Ototoxic, 89, 166 Oxidation, 17, 63, 137, 147, 154, 166 Oxidative metabolism, 137, 166 P Pancreas, 148, 166 Paralysis, 141, 151, 166, 170 Parathyroid, 84, 166, 176 Parathyroid Glands, 166 Parathyroid hormone, 84, 166 Particle, 161, 166, 177 Parturition, 18, 166 Pathogenesis, 7, 13, 15, 57, 73, 166 Pathologic, 104, 137, 141, 146, 166, 171 Pathologies, 104, 166 Pathophysiology, 14, 166 Patient Education, 122, 130, 132, 136, 166 Pedigree, 22, 26, 166 Peptide, 166, 168, 169 Perception, 146, 148, 166 Perfusion, 167, 177 Peripheral blood, 91, 167 PH, 71, 142, 167 Pharmacologic, 139, 167, 177 Pharynx, 163, 167 Phenotype, 5, 8, 13, 15, 18, 24, 31, 32, 51, 153, 167 Phenylalanine, 167, 178

Index 187

Phospholipases, 167, 174 Phospholipids, 151, 167 Phosphorus, 142, 166, 167 Photophobia, 13, 135, 137, 167 Photoreceptor, 89, 167 Physiologic, 141, 149, 167, 171 Physiology, 9, 84, 87, 90, 104, 137, 150, 167 Piebaldism, 72, 167 Plants, 153, 159, 163, 167, 172, 177 Plasma, 6, 27, 65, 97, 139, 147, 153, 155, 168, 177 Plasma cells, 139, 168 Plastids, 166, 168 Platelet Activation, 168, 174 Point Mutation, 4, 52, 69, 168 Polyarthritis, 158, 168 Polymorphic, 42, 168 Polymorphism, 33, 49, 69, 168 Polypeptide, 138, 145, 151, 156, 168, 169, 177, 180 Polysaccharide, 139, 168 Posterior, 5, 63, 65, 140, 144, 149, 158, 166, 168 Postoperative, 147, 168 Postsynaptic, 168, 174, 176 Post-translational, 6, 168 Potentiation, 168, 174 Practice Guidelines, 114, 168 Precursor, 149, 150, 159, 167, 168, 178 Prenatal, 34, 40, 65, 66, 71, 150, 168 Prenatal Diagnosis, 34, 40, 66, 71, 168 Prevalence, 22, 40, 67, 80, 169 Progesterone, 169, 175 Progression, 139, 169 Progressive, 12, 39, 62, 64, 103, 104, 143, 154, 163, 164, 168, 169, 170, 172, 178 Projection, 4, 165, 169, 171 Promoter, 69, 85, 169 Prone, 103, 169 Protein Binding, 169, 177 Protein C, 5, 11, 13, 16, 95, 97, 98, 138, 140, 145, 169 Protein Conformation, 138, 169 Protein Folding, 5, 11, 169 Protein S, 7, 11, 13, 102, 141, 164, 169 Proteins, 5, 6, 9, 10, 13, 14, 15, 16, 17, 39, 90, 138, 139, 141, 143, 144, 145, 154, 156, 161, 162, 165, 166, 168, 169, 171, 173, 177 Protocol, 39, 169 Proton Pump, 17, 169 Protons, 138, 156, 169, 170 Proviruses, 9, 169

Proximal, 38, 149, 163, 170 Psychic, 170, 173 Psychosis, 26, 60, 170 Ptosis, 104, 170 Public Health, 12, 114, 170 Public Policy, 113, 170 Publishing, 20, 125, 170 Pulmonary, 12, 43, 97, 98, 122, 170 Pulmonary Fibrosis, 12, 43, 97, 98, 122, 170 Pulse, 150, 162, 170 Pupil, 146, 149, 170 Q Quaternary, 169, 170 Quiescent, 170, 179 R Race, 58, 149, 158, 162, 170 Radiation, 8, 137, 152, 161, 170, 176, 179 Radiation therapy, 137, 170 Radioactive, 156, 157, 161, 163, 165, 170 Reality Testing, 170 Receptor, 5, 10, 137, 139, 146, 151, 167, 171, 173 Receptors, Serotonin, 171, 173 Recombinant, 8, 171, 178 Recombination, 19, 171 Rectum, 142, 148, 149, 152, 153, 157, 159, 171 Red Nucleus, 140, 171 Refer, 1, 142, 145, 159, 164, 170, 171 Reflex, 84, 171 Refraction, 163, 171, 174 Refractive Errors, 138, 171 Refractive Power, 163, 171 Reperfusion, 84, 171 Reperfusion Injury, 171 Resorption, 156, 171 Reticular, 14, 171 Reticulocytes, 150, 171 Retina, 5, 18, 33, 39, 43, 80, 84, 85, 89, 98, 123, 144, 152, 159, 163, 164, 165, 171, 172, 179 Retinal, 4, 6, 10, 13, 18, 23, 68, 90, 103, 146, 149, 165, 172, 175, 179 Retinal Ganglion Cells, 4, 165, 172 Retinal pigment epithelium, 6, 13, 18, 172 Retinitis, 103, 104, 172 Retinitis Pigmentosa, 103, 104, 172 Retinol, 172 Retinopathy, 103, 172 Retrograde, 19, 172 Retrovirus, 169, 172 Ribonuclease, 11, 172

188 Albinism

Rod, 103, 167, 172 Rubella, 104, 172 S Salivary, 148, 172, 179 Salivary glands, 148, 172 Saponins, 172, 175 Schizophrenia, 43, 60, 69, 173 Screening, 12, 18, 39, 144, 173 Secretion, 147, 158, 173, 178 Segregation, 69, 171, 173 Seizures, 87, 173 Selenium, 84, 173 Sensor, 6, 173 Sequence Analysis, 36, 69, 173 Sequencing, 8, 11, 173 Serotonin, 70, 171, 173, 178 Serum, 21, 39, 145, 173 Sex Determination, 18, 173 Sharpness, 173, 179 Shock, 173, 178 Signal Transduction, 6, 59, 173 Skeleton, 5, 15, 174 Skull, 141, 147, 174, 176 Small intestine, 156, 158, 174, 179 Social Support, 124, 174 Soft tissue, 142, 174 Solvent, 154, 174 Soma, 174 Somatic, 9, 75, 174 Specialist, 126, 149, 174 Species, 5, 89, 143, 149, 150, 154, 156, 158, 162, 170, 174, 176, 178, 179 Specificity, 174, 177 Spectrum, 13, 71, 174 Sperm, 144, 174 Spermatogenesis, 18, 174 Spermatozoa, 174 Spinal cord, 143, 144, 152, 161, 164, 171, 174 Squamous, 76, 150, 175 Squamous cell carcinoma, 76, 150, 175 Squamous cells, 175 Stem cell transplantation, 25, 175 Stem Cells, 150, 175 Stereoscopic, 13, 175 Sterile, 18, 166, 175 Steroid, 38, 98, 172, 175 Steroid therapy, 98, 175 Stimulus, 138, 149, 151, 157, 158, 171, 175 Stomach, 148, 149, 151, 152, 153, 156, 167, 174, 175

Strabismus, 12, 13, 40, 48, 62, 68, 74, 78, 104, 137, 138, 175 Strand, 69, 175 Stress, 89, 175 Stricture, 70, 175 Stroke, 100, 112, 175 Stroma, 158, 175 Subarachnoid, 155, 158, 167, 175 Subclinical, 157, 173, 176 Subspecies, 174, 176 Substrate, 9, 16, 84, 176 Sun protection factor, 103, 176 Sunburn, 103, 136, 176 Support group, 91, 126, 176 Synapses, 164, 176 Synaptic, 174, 176 Systemic, 17, 150, 156, 157, 158, 160, 170, 176 Systemic disease, 156, 176 Systemic lupus erythematosus, 160, 176 T Temporal, 5, 19, 75, 176 Terminator, 145, 176 Tetany, 166, 176 Thalamic, 140, 176, 177 Thalamic Diseases, 140, 177 Thalassemia, 77, 155, 177 Thrombin, 169, 177 Thrombomodulin, 169, 177 Thrombosis, 169, 175, 177 Thyroid, 166, 177, 178 Thyroid Gland, 166, 177 Tissue Distribution, 11, 177 Tomography, 43, 65, 142, 177 Toxic, iv, 138, 157, 173, 177 Toxicology, 114, 177 Toxins, 138, 139, 157, 162, 177 Transduction, 7, 173, 177 Transfection, 9, 141, 177 Transferases, 154, 177 Transillumination, 75, 80, 178 Translation, 164, 178 Translational, 178 Translocation, 14, 76, 178 Transplantation, 5, 160, 178 Trauma, 103, 156, 164, 178 Trophoblast, 141, 178 Tryptophan, 145, 173, 178 Tuberculosis, 160, 178 Tumour, 152, 178 Tyrosine, 6, 8, 17, 21, 178

Index 189

U Ubiquitin, 6, 178 Unconscious, 156, 178 Urethra, 178 Urinary, 156, 157, 178 Urine, 42, 97, 141, 147, 157, 178 Uterus, 144, 146, 152, 169, 178 V Vaccine, 169, 178 Vacuoles, 166, 178 Vagina, 148, 178 Vascular, 68, 138, 144, 157, 177, 178 Vector, 157, 177, 178 Vein, 165, 178 Venous, 143, 169, 179 Ventricles, 144, 156, 179 Ventricular, 156, 179 Vesicular, 7, 179 Veterinary Medicine, 113, 179 Villi, 156, 179 Viral, 15, 165, 172, 177, 179 Virus, 140, 143, 153, 169, 172, 177, 179

Viscera, 174, 179 Visual Acuity, 6, 13, 17, 37, 70, 75, 123, 137, 179 Visual Cortex, 138, 179 Visual field, 165, 172, 179 Visual Pathways, 17, 18, 25, 27, 42, 179 Vital Capacity, 98, 179 Vitiligo, 4, 39, 102, 103, 179 Vitreous Body, 144, 171, 179 Vitreous Humor, 21, 179 Vitro, 179 Vivo, 9, 179 X Xenograft, 139, 179 Xerostomia, 158, 179 X-ray, 8, 16, 142, 152, 161, 165, 170, 179 Y Yeasts, 167, 179 Z Zygote, 163, 180 Zymogen, 169, 180

190 Albinism

Index 191

192 Albinism

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