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    Mental Retardation and Developmental Delay: Genetic and Epigenetic Factors

    Mental Retardation and Developmental Delay by Smith, Moyra;

    Genetic and Epigenetic Factors

    Series: Oxford Monographs on Medical Genetics;

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      • Publisher's listprice GBP 77.00
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        34 765 Ft (33 110 Ft + 5% VAT)
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    34 765 Ft

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    Product details:

    • Publisher OUP USA
    • Date of Publication 1 December 2005

    • ISBN 9780195174328
    • Binding Hardback
    • No. of pages344 pages
    • Size 160x236x20 mm
    • Weight 601 g
    • Language English
    • Illustrations 43 line illustrations
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    Short description:

    This book makes readily available current knowledge on the subject of mental retardation and developmental delay and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Chapters cover normal and abnormal brain structure, neurogenesis, and signal transduction before delving into a discussion of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases.

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    Long description:

    Recent advances in neuroscience and genetics have greatly expanded our understanding of the brain and of the etiological factors involved in developmental delay and mental retardation. At the same time, the human genome project has yielded a wealth of information on DNA sequencing, regulation of gene expression, epigenetics, and functional aspects of the genome, which newly propels investigation into the pathogenesis of mental retardation. This book makes readily available current knowledge on the subject and applies it to clinical medicine, providing information essential to neurologists, geneticists, physicians and pediatricians as they search for the causes of mental handicap in their patients. Introductory chapters cover normal and abnormal brain structure, neurogenesis, neuronal proliferation, and signal transduction. Latter chapters delve into discussions of both the environmental factors that may lead to neurocognitive deficits and the cytogenetic, biochemical and molecular defects specifically associated with mental retardation. One chapter reviews gene involvement in non-syndromic mental retardation, autism, and language deficits, as well as multifactorial and genetically complex inheritance. The text concludes with a clinically practical discussion of carrier detection, presymptomatic diagnosis, and treatment of various genetic diseases through enzyme therapy, substrate deprivation, and the use of hemapoietic stem cells.

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    Table of Contents:

    Science, society and mental retardation: a history
    Neurogenesis, neuronal migration, maturation and function: insights into learning and memory
    Structural brain anomalies and neural tube defects
    Mental retardation associated with dysmorphology, growth retardation or overgrowth
    Mental retardation associated with other neurological defects
    Mental retardation that develops after a period of normal cognition
    Nonsyndromic mental retardation, autism and language deficits
    Genomics, functional genomics and epigenetics: relevance to mental retardation
    Establishing a diagnosis and determining etiology in developmental delay and mental retardation
    Epilogue: the value of genetic diagnosis - applying knowledge about etiology to prevention and treatment

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