Genomic Imprinting and Uniparental Disomy in Medicine

Genomic Imprinting and Uniparental Disomy in Medicine
Author: Eric Engel
Publisher: John Wiley & Sons
Total Pages: 303
Release: 2004-03-24
Genre: Medical
ISBN: 0471459135

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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 summarizing clinical phenotypes and chromosomal involvement in UPD, as well as clear illustrations on imprinting mechanisms and diagnostic testing. This authoritative, completely up-to-date practical reference will be useful for any clinical geneticist, genetic counselor, physician, or researcher encountering patients with such disorders or studying complex disease mechanisms.


Genomic Imprinting and Uniparental Disomy in Medicine
Language: en
Pages: 303
Authors: Eric Engel
Categories: Medical
Type: BOOK - Published: 2004-03-24 - Publisher: John Wiley & Sons

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Eric Engel and Stylianos Antonarakis have written the most authoritative and vital reference on molecular and clinical aspects of uniparental disomy (UPD) and g
Uniparental Disomy (UPD) in Clinical Genetics
Language: en
Pages: 201
Authors: Thomas Liehr
Categories: Medical
Type: BOOK - Published: 2014-06-26 - Publisher: Springer

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This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived fro
Chromosome Abnormalities and Genetic Counseling
Language: en
Pages: 650
Authors: R.J. MKinlay Gardner
Categories: Medical
Type: BOOK - Published: 2012 - Publisher: OUP USA

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Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necess
Gardner and Sutherland's Chromosome Abnormalities and Genetic Counseling
Language: en
Pages: 729
Authors: R.J. McKinlay Gardner
Categories: Medical
Type: BOOK - Published: 2018-02-06 - Publisher: Oxford University Press

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Even as classic cytogenetics has given way to molecular karyotyping, and as new deletion and duplication syndromes are identified almost every day, the fundamen
Genomic Imprinting
Language: en
Pages: 188
Authors: R. Ohlsson
Categories: Medical
Type: BOOK - Published: 1995-12-14 - Publisher: Cambridge University Press

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This significant new publication on genomic or parental imprinting has been prepared by an outstanding team of international authorities. Genomic imprinting res