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Inherited bone marrow failure syndromes : studying families with rare blood disorders and risk of cancer.
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Year: 2002 Publisher: [Bethesda, Md.] : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch,

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Inherited bone marrow failure syndromes : studying families with rare blood disorders and risk of cancer.
Author:
Year: 2002 Publisher: [Bethesda, Md.] : U.S. Dept. of Health and Human Services, Public Health Service, National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Clinical Genetics Branch,

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Outcomes in neurodevelopmental and genetic disorders
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ISBN: 1107122309 128016039X 9786610160396 0511119186 1139146904 0511063172 0511056842 0511304943 0511543875 0511071639 9780511063176 9780511071638 9780511119187 9780511543876 9780521797214 0521797217 9781280160394 0521797217 Year: 2002 Publisher: Cambridge : Cambridge University Press,

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Edited by two leading authorities and written by a team of international experts in the field, this book describes the causes, course and treatment of a variety of developmental and genetic disorders, including attention-deficit disorder, fragile X syndrome and the autistic spectrum disorders. There is a particular focus on the course of disorders over time, and outcome in adulthood. Outcome is an area often overlooked in other books about developmental disorders, but is an issue of great importance to parents and carers and one that has important implications for education, health, social and employment services. As well as providing succinct and up-to-date summaries of the most recent research, the authors give clinicians practical guidelines for intervention and management with children and young adults. This book is essential reading for clinicians and psychologists, and anyone working with or caring for children with special educational needs.

The genetic basis of common diseases
Authors: --- ---
ISBN: 1280830956 9786610830954 0199747776 9780199747771 0195125827 9780195125825 Year: 2002 Volume: 44 Publisher: Oxford New York Oxford University Press

Overgrowth syndromes
Authors: --- ---
ISBN: 1280761563 9786610761562 1429440384 9781429440387 9781280761560 0195117468 9780195117462 6610761566 Year: 2002 Volume: no. 43 Publisher: New York : Oxford University Press,

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This is an encyclopedic account of overgrowth syndromes in children who are large at birth or experience excessive postnatal growth or some combination of increased weight, length and head circumference. Many of these syndromes are associated with cancer, which adds to their clinical significance. For each syndrome the authors present a historical perspective and cover epidemiology, causes and molecular biology when known, clinical and pathological features, and diagnosis.

A clinical guide to inherited metabolic diseases
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ISBN: 1107126169 1280159804 9786610159802 1139130404 051112192X 0511042884 0511147821 0511054661 9780511042881 9780511121920 9780521890762 0521890764 6610159807 9780511054662 0511039328 9780511039324 0521890764 9781107126169 9781280159800 9781139130400 9780511147821 Year: 2002 Publisher: Cambridge, U.K. ; New York : Cambridge University Press,

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This clinically organized, user-friendly, handbook is intended to help general physicians and medical specialists in training with the first critical steps in clinical diagnosis: how to determine that this is an inherited metabolic disease, and where to go from here to establish a diagnosis.

Introduction to molecular medicine
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ISBN: 0387953728 0387225218 9786610188116 1280188111 Year: 2002 Publisher: New York (N.Y.) : Springer,

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This book continues the story of a new field called molecular medi­ cine. The first edition appeared 10 years ago in a previous millennium. At that time cloning a gene was cutting edge research; now gene cloning is a high school science fair project. The complete sequencing of the human genome was finished last year; cloning a human is a likely (and very controversial) event for 2002. The tools of molecular medicine have become very powerful and automated; DNA on a chip and microarrays allow us to probe large parts of the genome and its function. The speed of sequencing DNA has increased about 100,0- fold over the decade since the first edition of this book was published. Following the great improvements in technology, DNA and molecular research have a rapidly deepening impact on human medicine. Molec­ ular therapies including DNA vaccines, antisense, and gene transplan­ tation are undergoing clinical trials.

Huntington's disease
Authors: --- ---
ISBN: 128101558X 9786611015589 1417599960 9781417599967 0198510608 Year: 2002 Publisher: [Place of publication not identified] Oxford University Press

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It is now almost a decade since the identification of the Huntington's Disease gene and its mutation, during which time, major advances in our understanding of this disorder have been achieved. Since publication of the first two editions of this book, there have been considerable insights into how the mutation leads to the molecular pathology, neuropathology and clinical symptoms of Huntington's Disease, and experimental tools are now in place to take this research further towards new therapeutic approaches. As a result of these major advances, this well-established series of books has required radical updating. An international group of researchers and clinicians with specialist interests in HD has been commissioned to document the recent advances in our understanding of this disease. Developments in the fields of structural biology, cell biology, neurochemistry and neuropathology, with full coverage of transgenic animal models, are discussed in detail. The clinical sections cover genetic, neurological and psychiatric aspects as well as new developments in therapy.; This book will continue to provide an invaluable source of information for clinicians and scientists involved with Huntington's Disease, including geneticists, psychiatrists and neurologists, and basic science research workers in genetics and neurobiology.

Keywords

Huntington's disease --- Huntington Disease. --- Medicine --- Health & Biological Sciences --- Neurology --- Akinetic-Rigid Variant of Huntington Disease --- Chorea, Chronic Progressive Hereditary (Huntington) --- Chronic Progressive Hereditary Chorea (Huntington) --- Huntington Chronic Progressive Hereditary Chorea --- Huntington Disease, Akinetic-Rigid Variant --- Huntington Disease, Juvenile --- Huntington Disease, Juvenile-Onset --- Huntington Disease, Late Onset --- Huntington's Chorea --- Huntington's Disease --- Juvenile-Onset Huntington Disease --- Late-Onset Huntington Disease --- Progressive Chorea, Chronic Hereditary (Huntington) --- Progressive Chorea, Hereditary, Chronic (Huntington) --- Huntington Chorea --- Juvenile Huntington Disease --- Akinetic Rigid Variant of Huntington Disease --- Chorea, Huntington --- Chorea, Huntington's --- Huntington Disease, Akinetic Rigid Variant --- Huntington Disease, Juvenile Onset --- Huntington Disease, Late-Onset --- Juvenile Onset Huntington Disease --- Late Onset Huntington Disease --- Chronic progressive chorea --- Chronic progressive hereditary chorea --- Degenerative chorea --- HC (Disease) --- HD (Disease) --- Hereditary chorea --- Huntington chorea --- Huntington chronic progressive hereditary chorea --- Huntington disease --- Huntington's chorea --- Lund-Huntington chorea --- Microcellular striatal syndrome --- Progressive hereditary chorea, Chronic --- Chorea --- Dementia --- Genetic disorders --- Nervous system --- Degeneration --- Huntington's chorea.

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