This book considers in detail the mechanisms of a major human problem. Chromosome imbalance affects all stages of life in ways ranging from spontaneous abortion and retardation to behavioural problems and malignancy. In The Consequences of Chromosome Imbalance: Principles, Mechanisms, and Models, Charles J. Epstein concerns himself with how and why a particular chromosome imbalance produces a specific phenotype. His fundamental goal is to connect chromosome aberrations with functional abnormalities in terms of gene expression, developmental and cell biology, and metabolism. Through his examination of this relationship, we learn more about normal development and function. The book begins with an exploration of several human autosomal aneuploid phenotypes, with particular emphasis on the relationship between genotype and phenotype. In the next part, broad theoretical considerations of the mechanisms which generate these phenotypes are examined with reference to studies on man and other organisms such as bacteria and mice. Experimental approaches to study the effects of aneuploidy are presented next with special attention paid to the development of model systems for studying human aneuploidy.
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Considers the mechanisms by which changes in the number of chromosomes in a person or animal produce abnormalities of development and function. Attempts to connect chromosome abnormalities with functional irregularities in terms of gene expression, developmental and cell biology and metabolism.
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Front Cover | Front Flap | Table of Contents | First Pages | Index | Back Flap | Back Cover | Surprise Me!
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This book is about a major human problem, one which affects human existence from conception to death. Read the first page Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
trisomie cells, noninactivated region, triplex state, arylhydrocarbon hydroxylase system, interferon response system, constitutional aneuploidy, segmental aneuploids, aneuploid phenotypes, aneuploid segment, mouse aneuploids, trisomic state, double aneuploidy, aneuploid states, trisomic cells, gene dosage studies, complementary duplications, mouse trisomy, autosomal dosage compensation, monosomic cells, mosaic tetrasomy, mouse trisomies, trisomic individuals, segmental aneuploidies, murine trisomy, phenotypic mapping Key Phrases - Capitalized Phrases (CAPs): (learn more)
Human Gene Mapping, Klep-de Pater, Plasmocytoma Wiener, Van Keuren New!
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Front Cover | Front Flap | Table of Contents | First Pages | Index | Back Flap | Back Cover | Surprise Me!
This book is about a major human problem, one which affects human existence from conception to death. Read the first page Key Phrases - Statistically Improbable Phrases (SIPs): (learn more)
trisomie cells, noninactivated region, triplex state, arylhydrocarbon hydroxylase system, interferon response system, constitutional aneuploidy, segmental aneuploids, aneuploid phenotypes, aneuploid segment, mouse aneuploids, trisomic state, double aneuploidy, aneuploid states, trisomic cells, gene dosage studies, complementary duplications, mouse trisomy, autosomal dosage compensation, monosomic cells, mosaic tetrasomy, mouse trisomies, trisomic individuals, segmental aneuploidies, murine trisomy, phenotypic mapping Key Phrases - Capitalized Phrases (CAPs): (learn more)
Human Gene Mapping, Klep-de Pater, Plasmocytoma Wiener, Van Keuren New!
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Front Cover | Front Flap | Table of Contents | First Pages | Index | Back Flap | Back Cover | Surprise Me!
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This book cites 13
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books
cite this book:
- New Chromosomal Syndromes (Chromosomes in biology and medicine) by Yunis on 4 pages
- Alzheimer's Disease: Early Recognition of Potentially Reversible Deficits by A.I.M. Glen in Back Matter (1), and Back Matter (2)
- Metabolic Basis of Inherited Disease by John B. Stanbury in Back Matter (1), and Back Matter (2)
- Development and Function of Reproductive Organs: 5th: Workshop Proceedings (International congress series) by Anne Grete Byskov in Back Matter
- Current Concepts in Erythropoiesis (A Wiley medical publication) by C.D.R. Dunn in Back Matter
See all 13 books this book cites
- Neurodegenerative Diseases (Rhone-Poulenc Rorer Round Table Conferences) by G. Jolles on page 249
- Current Topics in Developmental Biology, Volume 29 by Roger A. Pedersen on page 316
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