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

Author: Eric Engel, Dr.; Stylianos E Antonarakis
Publisher: New York : Wiley-Liss, ©2002.
Series: Wiley InterScience electronic collection.
Edition/Format:   eBook : Document : EnglishView all editions and formats
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.
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Genre/Form: Electronic books
Additional Physical Format: Print version:
Engel, Eric, Dr.
Genomic imprinting and uniparental disomy in medicine.
New York : Wiley-Liss, ©2002
(DLC) 2001026921
(OCoLC)47177677
Material Type: Document, Internet resource
Document Type: Internet Resource, Computer File
All Authors / Contributors: Eric Engel, Dr.; Stylianos E Antonarakis
ISBN: 0471459135 9780471459132 0471221937 9780471221937
OCLC Number: 52366539
Notes: Errata slip inserted.
Reproduction Notes: Electronic reproduction. [S.l.] : HathiTrust Digital Library, 2010. MiAaHDL
Description: 1 online resource (xiv, 285 pages) : illustrations
Details: Master and use copy. Digital master created according to Benchmark for Faithful Digital Reproductions of Monographs and Serials, Version 1. Digital Library Federation, December 2002.
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.
Series Title: Wiley InterScience electronic collection.
Responsibility: Eric Engel, Stylianos E. Antonarakis ; with contributions by Célia D. Delozier-Blanchet and Robert Lyle.

Abstract:

Offering a clinical and molecular perspective on genomic imprinting and uni-parental disomy (UPD), this work includes a practical description of the laboratory tests used to assess relevant  Read more...

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

 
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