Genomic imprinting and uniparental disomy in medicine : clinical and molecular aspects / Eric Engel, Stylianos E. Antonarakis ; with contributions by Célia D. Delozier-Blanchet and Robert Lyle
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
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
