Genomic Imprinting and Uniparental Disomy in Medic Medicine – Clinical & Molecular Aspects
John Wiley & Sons Inc (Verlag)
978-0-471-35126-9 (ISBN)
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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.
Eric Engel M.D. is Honorary Professor of Medicine at the Geneva University School of Medicine in Geneva, Switzerland. He received his M.D. from the Geneva University School of Medicine in 1951. In the course of his career he has been a Research Fellow and Instructor of Medicine, Harvard Medical School, Professor of Medicine and head of the Genetic Center, Vanderbilt University School of Medicine, and finally, Professor of Medicine and Director of The Medical Institute of Genetics, Geneva University.
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
| Verlagsort | New York |
|---|---|
| Sprache | englisch |
| Maße | 158 x 239 mm |
| Gewicht | 556 g |
| Themenwelt | Informatik ► Weitere Themen ► Bioinformatik |
| Naturwissenschaften ► Biologie ► Genetik / Molekularbiologie | |
| ISBN-10 | 0-471-35126-1 / 0471351261 |
| ISBN-13 | 978-0-471-35126-9 / 9780471351269 |
| Zustand | Neuware |
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