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Through six editions, Thompson & Thompson's Genetics in Medicine has been a well-established favorite textbook on this fascinating and rapidly evolving field, integrating the classic principles of human genetics with modern molecular genetics to help you understand a wide range of genetic disorders. The 7th edition incorporates the latest advances in molecular diagnostics, the Human Genome Project, and much more. More than 240 dynamic illustrations and high-quality photos help you grasp complex concepts more easily.

  • This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.
    • Acquire the state-of-the-art knowledge you need on the latest advances in molecular diagnostics, the Human Genome Project, pharmacogenetics, and bio-informatics.
    • Better understand the relationship between basic genetics and clinical medicine with a variety of clinical case studies.
    • Recognize a wide range of genetic disorders with visual guidance from more than 240 dynamic illustrations and high-quality photos.
    • This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included.


    Derecho de autor
    Osteogénesis imperfecta
    Genetta genetta
    Herencia Mendeliana en el Hombre
    Ácido desoxirribonucleico
    Genoma mitocondrial
    Genetic structure
    Sex chromosome disorders
    Klinefelter's syndrome
    Alzheimer's disease
    Mental retardation
    Mannan-binding lectin
    Clinical Medicine
    Chromosome abnormality
    Nuchal scan
    Common Genet
    Greig cephalopolysyndactyly syndrome
    Medical genetics
    Neural tube defect
    Personalized medicine
    Medical research
    Family medicine
    Human genetics
    Protein S
    Missense mutation
    Germline mutation
    Duchenne muscular dystrophy
    Children's hospital
    Newborn screening
    Biological agent
    Nonsense mutation
    Chorionic villus sampling
    Mendelian Inheritance in Man
    Prenatal diagnosis
    Quantitative trait locus
    Fetal alcohol syndrome
    Satellite DNA
    Hematopoietic stem cell transplantation
    Physician assistant
    Gene duplication
    Public health
    Genetic variation
    Congenital disorder
    Hirschsprung's disease
    Genetic counseling
    Cleft lip and palate
    Severe combined immunodeficiency
    Risk assessment
    Major histocompatibility complex
    Medical ultrasonography
    Homology (biology)
    Cystic fibrosis
    Turner syndrome
    Tumor suppressor gene
    Data storage device
    Nucleic acid
    Messenger RNA
    Gene therapy
    Genetic disorder
    Genetic code
    Down syndrome
    Complementary DNA
    National Cancer Institute
    Cytochrome P450
    Genette commune
    Corpus iuris civilis
    Héritage mendélien chez l'Homme
    National Institutes of Health
    Tool (groupe)


    Publié par
    Date de parution 01 août 2007
    Nombre de lectures 0
    EAN13 9781437700930
    Langue English
    Poids de l'ouvrage 12 Mo

    Informations légales : prix de location à la page 0,0261€. Cette information est donnée uniquement à titre indicatif conformément à la législation en vigueur.


    Thompson & Thompson GENETICS IN MEDICINE
    Seventh Edition

    Robert L. Nussbaum, MD
    Holly Smith Distinguished Professor in Science and Medicine
    Chief, Division of Medical Genetics, Department of Medicine and The Institute for Human Genetics, University of California, San Francisco, San Francisco, California

    Roderick R. McInnes, MD, PhD, FRS(C)
    University Professor, Anne and Max Tanenbaum Chair in Molecular Medicine
    Professor of Pediatrics and Molecular and Medical Genetics, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada
    Scientific Director, Institute of Genetics, Canadian Institutes of Health Research

    Huntington F. Willard, PhD
    Director, Institute for Genome Sciences and Policy
    Vice Chancellor for Genome Sciences, Nanaline H. Duke Professor of Genome Sciences, Duke University, Durham, North Carolina

    With Clinical Case Studies updated and new cases prepared by
    Ada Hamosh, MD, MPH
    Clinical Director, Institute of Genetic Medicine
    Scientific Director, OMIM
    Associate Professor, Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland
    1600 John F. Kennedy Blvd.
    Ste 1800
    Philadelphia, PA 19103-2899
    ISBN: 9781416030805
    Copyright © 2007, 2004, 2001, 1991, 1986, 1980, 1973, 1966 by Saunders, an imprint of Elsevier Inc.
    All rights reserved. No part of this publication may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, recording, or any information storage and retrieval system, without permission in writing from the publisher.
    Permissions may be sought directly from Elsevier’s Health Sciences Rights Department in Philadelphia, PA, USA: phone: (+1) 215 239 3804, fax: (+1) 215 239 3805, e-mail: . You may also complete your request on-line via the Elsevier homepage ( ), by selecting “Customer Support” and then “Obtaining Permissions.”

    Neither the Publisher nor the Authors assume any responsibility for any loss or injury and/or damage to persons or property arising out of or related to any use of the material contained in this book. It is the responsibility of the treating practitioner, relying on independent expertise and knowledge of the patient, to determine the best treatment and method of application for the patient.
    The Publisher
    Library of Congress Cataloging-in-Publication Data
    Nussbaum, Robert L, 1950—
    Thompson & Thompson Genetics in Medicine. — 7th ed./Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard.
    p.; cm.
    Includes bibliographical references and index.
    ISBN 978-1-4160-3080-5
    1. Medical genetics. I. McInnes, Roderick R. II. Willard, Huntington F. III. Thompson, Margaret W. (Margaret Wilson), 1920 — Thompson & Thompson Genetics in Medicine. IV. Title. V. Title: Genetics in medicine. VI. Title: Thompson and Thompson Genetics in Medicine.
    [DNLM: 1. Genetics, Medical. QZ 50 N975t 2007]
    RB155.T52 2007
    616′.042—dc22 2006033374
    Acquisitions Editor: Kate Dimock
    Developmental Editor: Marybeth Thiel
    Publishing Services Manager: Linda Van Pelt
    Design Direction: Karen O’Keefe Owens
    Cover Design Direction: Karen O’Keefe Owens
    Printed in Canada
    Last digit is the print number: 9 8 7 6 5 4 3 2 1
    In their preface to the first edition of Genetics in Medicine, published over 40 years ago, James and Margaret Thompson wrote:

    Genetics is fundamental to the basic sciences of preclinical medical education and has important applications to clinical medicine, public health and medical research. With recognition of the role of genetics in medicine has come the problem of providing a place for it in the undergraduate curriculum, a problem which is as yet only partly solved in most medical schools. This book has been written to introduce the medical student to the principles of genetics as they apply to medicine, and to give him (her) a background for his own reading of the extensive and rapidly growing literature in the field. If his (her) senior colleagues also find it useful, we shall be doubly satisfied.
    What was true then is even more so now as our knowledge of genetics and of the human genome is rapidly becoming an integral part of public health and the practice of medicine. This new edition of Genetics in Medicine, the seventh, seeks to fulfill the goals of the previous six by providing an accurate exposition of the fundamental principles of human and medical genetics. Using illustrative examples drawn from medicine, we continue to emphasize the genes and molecular mechanisms operating in human diseases.
    Much has changed, however, since the last edition of this book. Completion of the Human Genome Project provides us with a catalogue of all human genes, their sequence, and an extensive, and still growing, database of human variation. Genomic information has stimulated the creation of powerful new tools that are changing human genetics research and medical genetics practice. We therefore have expanded the scope of the book to incorporate the concepts of “Personalized Medicine” into Genetics in Medicine by providing more examples of how genomics is being used to identify the contributions made by genetic variation to disease susceptibility and treatment outcomes.
    The book is not intended to be a compendium of genetic diseases nor is it an encyclopedic treatise on human genetics and genomics in general. Rather, the authors hope that the seventh edition of Genetics in Medicine will provide students with a framework for understanding the field of medical genetics while giving them a basis on which to establish a program of continuing education in this area. The clinical cases, first introduced in the last edition to demonstrate and reinforce general principles of disease inheritance, pathogenesis, diagnosis, management, and counseling, continue to be an important feature of the book. We have expanded the set of cases to add more common complex disorders to the original set of cases, which comprised mostly highly informative and important disorders with mendelian inheritance. To enhance further the teaching value of the Clinical Cases, we have added an additional feature to the seventh edition: at specific points throughout the text, we provide a case number (highlighted in ) to direct readers to the case in the Clinical Case Studies section that is relevant to the concepts being discussed at that point in the text.
    Any medical or genetic counseling student, advanced undergraduate, graduate student in genetics, resident in any field of clinical medicine, practicing physician, or allied medical professional in nursing or physical therapy should find this book to be a thorough but not exhaustive (or exhausting!) presentation of the fundamentals of human genetics and genomics as applied to health and disease.

    Robert L. Nussbaum, MD

    Roderick R. McInnes, MD, PhD

    Huntington F. Willard, PhD
    The authors wish to express their appreciation and gratitude to their many colleagues who, through their ideas, suggestions, and criticisms, improved the seventh edition of Genetics in Medicine . In particular, we are grateful to Leslie Biesecker for sharing his knowledge and experience in molecular dysmorphology and genetics in the writing of Chapter 14 , “Developmental Genetics and Birth Defects.” We also thank Win Arias of the National Institutes of Health; Peter Byers and George Stamatoyannopoulos of the University of Washington; Diane Cox of the University of Alberta; Gary Cutting and David Valle of the Johns Hopkins School of Medicine; Robert Desnick of the Mount Sinai School of Medicine; Curt Harris of the National Cancer Institute; Douglas R. Higgs of the Weatherall Institute of Molecular Medicine; Katherine High of the Children’s Hospital of Philadelphia; Jennifer Jennings of the Institute of Genetics of the Canadian Institutes of Health Research; Mark Kay of Stanford University; Muin Khoury of the Centers for Disease Control; Joe Clarke, Don Mahuran, Chris Pearson, Peter Ray, and Steve Scherer of the Hospital for Sick Children, Toronto; Joseph Nevins and Hutton Kearney of Duke University; John Phillips III of the Vanderbilt University School of Medicine; Jennifer Puck and Mel Grumbach of the University of California, San Francisco; Eric Shoubridge of McGill University; Richard Spielman of the University of Pennsylvania; Peter St. George-Hyslop of the University of Toronto; Lyuba Varticovski of the National Cancer Institute; Paula Waters of the University of British Columbia; Huda Zoghbi and Arthur Beaudet of the Baylor College of Medicine; and David Ledbetter and Christa Lees Martin of Emory University. We also thank the many students in the Johns Hopkins/NIH Genetic Counseling Training Program for their constructive criticisms of the previous edition during the gestation of this new edition.
    We once again express our deepest gratitude to Dr. Margaret Thompson for providing us the opportunity to carry on the legacy of the textbook she created 40 years ago with her late husband, James S. Thompson. Finally, we again thank our families for their patience and understanding for the many hours we spent creating this, the seventh edition of Genetics in Medicine .
    Table of Contents
    Instructions for online access
    Chapter 1: Introduction
    Chapter 2: The Human Genome and the Chromosomal Basis of Heredity
    Chapter 3: The Human Genome: Gene Structure and Function

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