03066nam 2200589Ia 450 991087654130332120230607213117.01-280-36634-697866103663470-470-24216-70-471-45913-50-471-22193-7(CKB)111056485580850(EBL)152109(OCoLC)437250369(SSID)ssj0000161748(PQKBManifestationID)11159363(PQKBTitleCode)TC0000161748(PQKBWorkID)10200319(PQKB)10392047(MiAaPQ)EBC152109(EXLCZ)9911105648558085020010608d2002 uy 0engur|n|---|||||txtccrGenomic imprinting and uniparental disomy in medicine[electronic resource] clinical and molecular aspects /Eric Engel, Stylianos E. Antonarakis ; with contributions by CeĢlia D. Delozier-Blanchet and Robert LyleNew York Wiley-Lissc20021 online resource (303 p.)Errata slip inserted.0-471-35126-1 Includes bibliographical references and index.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; IndexEric 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 Genetic disordersGenomic imprintingGenetic disorders.Genomic imprinting.572.86616/.042Engel EricDr.1754991Antonarakis Stylianos E1754992MiAaPQMiAaPQMiAaPQBOOK9910876541303321Genomic imprinting and uniparental disomy in medicine4191571UNINA