Genomic imprinting and uniparental disomy in medicine [[electronic resource] ] : clinical and molecular aspects / / Eric Engel, Stylianos E. Antonarakis ; with contributions by Célia D. Delozier-Blanchet and Robert Lyle
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| Autore: |
Engel Eric, Dr.
|
| Titolo: |
Genomic imprinting and uniparental disomy in medicine [[electronic resource] ] : clinical and molecular aspects / / Eric Engel, Stylianos E. Antonarakis ; with contributions by Célia D. Delozier-Blanchet and Robert Lyle
|
| Pubblicazione: | New York, : Wiley-Liss, c2002 |
| Descrizione fisica: | 1 online resource (303 p.) |
| Disciplina: | 572.86 |
| 616/.042 | |
| Soggetto topico: | Genetic disorders |
| Genomic imprinting | |
| Altri autori: |
AntonarakisStylianos E
|
| Note generali: | Errata slip inserted. |
| Nota di bibliografia: | Includes bibliographical references and index. |
| Nota di contenuto: | 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 | |
| Sommario/riassunto: | Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and genomic imprinting to date. Genomic Imprinting and Uniparental Disomy in Medicine features comprehensive overviews of a multitude of genetic disorders linked to UPD, with a strong emphasis on clinical consequences. This book will provide readers with the tools necessary to identify and treat diseases associated with nontraditional chromosomal inheritance.Genomic Imprinting and Uniparental Disomy in Medicine features handy tables |
| Titolo autorizzato: | Genomic imprinting and uniparental disomy in medicine |
| ISBN: | 1-280-36634-6 |
| 9786610366347 | |
| 0-470-24216-7 | |
| 0-471-45913-5 | |
| 0-471-22193-7 | |
| Formato: | Materiale a stampa  |
| Livello bibliografico | Monografia |
| Lingua di pubblicazione: | Inglese |
| Record Nr.: | 9910876541303321 |
| Lo trovi qui: | Univ. Federico II |
| Opac: | Controlla la disponibilità qui |