Ebook Genetics in medicine (8/E): Part 1

Part 1 book "Genetics in medicine" includes content: Introduction, introduction to the human genome, the human genome, human genetic diversity - mutation and polymorphism, principles of clinical cytogenetics and genome analysis, the chromosomal and genomic basis of disease - disorders of the autosomes and sex chromosomes, patterns of single gene inheritance, complex inheritance of common multifactorial disorders, genetic variation in populations, identifying the genetic basis for human disease.
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Ebook Genetics in medicine (8/E): Part 1 THOMPSON & THOMPSON GENETICS IN MEDICINE THOMPSON & THOMPSON GENETICS EIGHTH EDITION IN MEDICINE Robert L. Nussbaum, MD, FACP, FACMG Holly Smith Chair of Medicine and Science Professor of Medicine, Neurology, Pediatrics and Pathology Department of Medicine and Institute for Human Genetics University of California San Francisco San Francisco, California Roderick R. McInnes, CM, MD, PhD, FRS(C), FCAHS, FCCMG Alva Chair in Human Genetics Canada Research Chair in Neurogenetics Professor of Human Genetics and Biochemistry Director, Lady Davis Institute Jewish General Hospital McGill University Montreal, Quebec, Canada Huntington F. Willard, PhD President and Director The Marine Biological Laboratory Woods Hole, Massachusetts and Professor of Human Genetics University of Chicago Chicago, Illinois With Clinical Case Studies updated by: Ada Hamosh, MD, MPH Professor of Pediatrics McKusick-Nathans Institute of Genetic Medicine Scientific Director, OMIM Johns Hopkins University School of Medicine Baltimore, Maryland 1600 John F. Kennedy Blvd. Ste 1800 Philadelphia, PA 19103-2899 THOMPSON & THOMPSON GENETICS IN MEDICINE, ISBN: 978-1-4377-0696-3 EIGHTH EDITION Copyright © 2016 by 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. Details on how to seek permission, further information about the Publisher’s permissions policies and our arrangements with organizations such as the Copyright Clearance Center and the Copyright Licensing Agency, can be found at our website: www.elsevier.com/permissions. This book and the individual contributions contained in it are protected under copyright by the Publisher (other than as may be noted herein). Notices Knowledge and best practice in this field are constantly changing. As new research and experience broaden our understanding, changes in research methods, professional practices, or medical treatment may become necessary. Practitioners and researchers must always rely on their own experience and knowledge in evaluating and using any information, methods, compounds, or experiments described herein. In using such information or methods they should be mindful of their own safety and the safety of others, including parties for whom they have a professional responsibility. With respect to any drug or pharmaceutical products identified, readers are advised to check the most current information provided (i) on procedures featured or (ii) by the manufacturer of each product to be administered, to verify the recommended dose or formula, the method and duration of administration, and contraindications. It is the responsibility of practitioners, relying on their own experience and knowledge of their patients, to make diagnoses, to determine dosages and the best treatment for each individual patient, and to take all appropriate safety precautions. To the fullest extent of the law, neither the Publisher nor the authors, contributors, or editors, assume any liability for any injury and/or damage to persons or property as a matter of products liability, negligence or otherwise, or from any use or operation of any methods, products, instructions, or ideas contained in the material herein. Previous editions copyrighted 2007, 2004, 2001, 1991, 1986, 1980, 1973, 1966. Library of Congress Cataloging-in-Publication Data Nussbaum, Robert L., 1950- , author.   Thompson & Thompson genetics in medicine / Robert L. Nussbaum, Roderick R. McInnes, Huntington F. Willard.—Eighth edition.    p. ; cm.   Genetics in medicine   Thompson and Thompson genetics in medicine   Includes bibliographical references and index.   ISBN 978-1-4377-0696-3 (alk. paper)   I.  McInnes, Roderick R., author.  II.  Willard, Huntington F., author.  III.  Title.  IV.  Title: Genetics in medicine.  V.  Title: Thompson and Thompson genetics in medicine.   [DNLM:  1.  Genetics, Medical.  QZ 50]   RB155   616′.042—dc23   2015009828 Content Strategist: Meghan Ziegler Senior Content Development Specialist: Joan Ryan Publishing Services Manager: Jeff Patterson Senior Project Manager: Mary Pohlman Design Direction: Xiaopei Chen Printed in Canada. Last digit is the print number:  9  8  7  6  5  4  3  2  1 Preface In their preface to the first edition of Genetics in and precision medicine into Genetics in Medicine by Medicine, published nearly 50 years ago, James and providing more examples of how genomics is being used Margaret Thompson wrote: to identify the contributions made by genetic variation to disease susceptibility and treatment outcomes. Genetics is fundamental to the basic sciences of The book is not intended to be a com ...