Uniparental Disomy (UPD) in Clinical Genetics

Uniparental Disomy (UPD) in Clinical Genetics

Author: Thomas Liehr

Publisher: Springer

ISBN: 9783642552885

Category: Medical

Page: 192

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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 from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently, all available information of the various chromosomal origins and the latest findings on genotype-phenotype correlations and clinical consequences are discussed. Numerous personal reports from families with a child suffering from a UPD-induced syndrome serve to complement the scientific and clinical aspects. Their experiences with genetic counseling and living with a family member affected by this chromosomal aberration present a vivid picture of what UPD means for its victims.
Uniparental Disomy (UPD) in Clinical Genetics
Language: en
Pages: 192
Authors: Thomas Liehr
Categories: Medical
Type: BOOK - Published: 2014-06-26 - Publisher: Springer

This book focus on genetic diagnostics for Uniparental Disomy (UPD), a chromosomal disorder defined by the exceptional presence of a chromosome pair derived from only one parent, which leads to a group of rare diseases in humans. First the molecular and cytogenetic background of UPD is described in detail; subsequently,
Genomic Imprinting and Uniparental Disomy in Medicine
Language: en
Pages: 304
Authors: Eric Engel, Stylianos E. Antonarakis
Categories: Medical
Type: BOOK - Published: 2004-04-07 - Publisher: John Wiley & Sons

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
Cytogenomics
Language: en
Pages: 428
Authors: Thomas Liehr
Categories: Science
Type: BOOK - Published: 2021-05-25 - Publisher: Academic Press

Cytogenomics demonstrates that chromosomes are crucial in understanding the human genome and that new high-throughput approaches are central to advancing cytogenetics in the 21st century. After an introduction to (molecular) cytogenetics, being the basic of all cytogenomic research, this book highlights the strengths and newfound advantages of cytogenomic research methods
Clinical Genetics in Nursing Practice
Language: en
Pages: 571
Authors: Felissa R. Lashley
Categories: Medical
Type: BOOK - Published: 2005-04-15 - Publisher: Springer Publishing Company

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Language: en
Pages: 344
Authors: Felissa R. Lashley
Categories: Medical
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" Designated a Doody's Core Title! REFRESH YOUR GENETIC KNOWLEDGE AND ENHANCE YOUR PATIENT CARE We now know that genetic factors can cause disease or affect an individual's susceptibility or resistance to disorders and even to treatment. To provide the best nursing care, it is therefore essential that practitioners and