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Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects

by Eric Engel

Genomic Imprinting and Uniparental Disomy in Medicine: Clinical and Molecular Aspects Cover

Synopses & Reviews

Review:

"…a thorough review…a great…reference…" (Journal of Genetic Counseling, Vol. 12, No. 3, June 2003)

Review:

Genomic Imprinting and Uniparental Disomy in Medicine will without any doubt become a classic in Human Genetics. Eric Engel and Stylianos Antonarakis have filled a gap in the litterature which will benefit both experts and students. Rather than sticking to purely scientific analyses of the phenomenon, they provide the reader a remarkable overview of the available knowledge on the subject, including a detailed discussion of known clinical examples, as well as real practical suggestions for the clinical genetics practice. Using simple and didactic schemes the different mechanisms of UPD are clearly explained for everybody to understand. For those not familiar with these rather frequent errors of nature the book will be an eye opener. —Jean-Jacques Cassiman, Center for Human Genetics, University of Leuven

Table of Contents

Foreword.

Preface.

Acknowledgements.

Introduction.

Detection of Uniparental Disomy and Imprinting by DNA Analysis.

Mechanisms Generating Uniparently Disomy and Genomic Imprinting Disorders.

Uniparental Disomy for Individual Human Chromosomes: Review of Cases.

"Old" and "New" Syndromes with Uniparental Disomy.

The Prader-(Labhardt)-Willi Syndrome.

The Angelman Syndrome (AS).

The Beckwith-Wiedemann Syndrome (BWS).

Genetic Counseling and Prenatal Diagnosis.

Genomic Imprinting in the Mouse.

Epilogue of an Unfinished Story.

Index.

Product Details

ISBN:
9780471351269
Subtitle:
Clinical and Molecular Aspects
Author:
Engel, Eric
Author:
Antonarakis, Stylianos E.
Author:
Engel, Erich
Publisher:
Wiley-Liss
Location:
New York
Subject:
Genetics
Subject:
Genetic disorders
Subject:
Chromosome abnormalities
Subject:
Genomic imprinting.
Subject:
General Medical
Copyright:
Edition Description:
Includes bibliographical references and index.
Publication Date:
October 2001
Binding:
Hardcover
Grade Level:
Professional and scholarly
Language:
English
Illustrations:
Y
Pages:
304
Dimensions:
9.66x6.22x.76 in. 1.22 lbs.

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