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Genomic imprinting and uniparental disomy in medicine clinical and molecular aspects /

This authoritative publication offers a rigorous clinical and molecular perspective on genomic imprinting and uniparental disomy (UPD), including a practical description of the laboratory tests used to assess relevant disorders. This work provides a full synopsis and discussion of genomic imprinting...

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Bibliographic Details
Main Authors: Engel, Eric, Dr
Group Author: Antonarakis, Stylianos E
Published:
Literature type: Electronic eBook
Language: English
Series: Wiley InterScience electronic collection
Subjects:
Genetic disorders
Genomic imprinting
Chromosome abnormalities
Maladies héréditaires
Empreintes génomiques
HEALTH & FITNESS > Diseases > Genetic
MEDICAL > Genetics
Erbkrankheit > Genetisches Imprinting
Genetisches Imprinting > Erbkrankheit
Medical sciences special topics > Genetics.
Electronic books
Online Access: http://onlinelibrary.wiley.com/book/10.1002/0471221937
Summary: This authoritative publication offers a rigorous clinical and molecular perspective on genomic imprinting and uniparental disomy (UPD), including a practical description of the laboratory tests used to assess relevant disorders. This work provides a full synopsis and discussion of genomic imprinting and helps to unravel the explosion of research advances since the discovery of UPD.
Item Description: Errata slip inserted.
Carrier Form: 1 online resource (xiv, 285 pages) : illustrations
Bibliography: Includes bibliographical references and index.
ISBN: 0471459135
9780471459132
0471221937
9780471221937
Index Number: RB155
CLC: R596
Contents: Genomic Imprinting and Uniparental Disomy in Medicine; Contents; Foreword; Preface; Acknowledgments; Chapter 1 Introduction; Chapter 2 Detection of Uniparental Disomy and Imprinting by DNA Analysis; Chapter 3 Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders; Chapter 4 Uniparental Disomy for Individual Human Chromosomes: Review of Cases; Chapter 5 ''Old'' and ''New'' Syndromes with Uniparental Disomy; Chapter 6 The Prader-(Labhardt)-Willi Syndrome; Chapter 7 The Angelman Syndrome (AS); Chapter 8 The Beckwith-Wiedemann Syndrome (BWS).
Chapter 9 Genetic Counseling and Prenatal DiagnosisChapter 10 Genomic Imprinting in the Mouse; Chapter 11 Epilogue of an Unfinished Story; Index.

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