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FXTAS, FXPOI, and other premutation disorders / edited by Flora Tassone, Deborah A. Hall.

Contributor(s): Tassone, Flora, editor literario | Hall, Deborah A., editor literario
Material type: materialTypeLabelE-bookPublisher: Cham : Springer International Publishing, 2016Edition: Second edition.Description: 1 recurso en línea (IX, 293 páginas) : 22 ilustraciones, 12 ilustraciones en color.ISBN: 9783319338989.Subject: Síndrome X frágil | Genética humana | Biología molecularOnline resources: Click here to access onlineDigital Resources
Contents:
1.Clinical Neurological Phenotype of FXTAS -- 2.The Epidemiology of FXTAS -- 3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes -- 4.Neuroimaging Findings in FXTAS -- 5.The Pathology of FXTAS -- 6.The Molecular Biology of FXTAS -- 7.Genotype/Phenotype Relationships in FXTAS -- 8.Mouse Models for FXTAS and the Fragile X Premutation -- 9.Treatment and Management of FXTAS -- 10.Clinical manifestation and management of FXPOI -- 11.Model systems for understanding FXPOI -- 12.Premutation-Associated Disorders in Childhood and Adulthood -- 13.Genetic Counseling for FXTAS and Fragile X-associated disorders. .
Summary: This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.
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Holdings
Item type Current library Collection Call number Copy number Status Date due Barcode Item holds
LIBRO-E NO PRÉSTAMO LIBRO-E NO PRÉSTAMO Madrid Digital Acceso Electrónico (UEM) Ciencias de la Salud RJ506 .F73 F88 2016 EB (Browse shelf(Opens below)) .i11602922 Acceso electrónico eBOOK .i11602922
Total holds: 0

1.Clinical Neurological Phenotype of FXTAS -- 2.The Epidemiology of FXTAS -- 3.FXTAS: Neuropsychological and Neuropsychiatric Phenotypes -- 4.Neuroimaging Findings in FXTAS -- 5.The Pathology of FXTAS -- 6.The Molecular Biology of FXTAS -- 7.Genotype/Phenotype Relationships in FXTAS -- 8.Mouse Models for FXTAS and the Fragile X Premutation -- 9.Treatment and Management of FXTAS -- 10.Clinical manifestation and management of FXPOI -- 11.Model systems for understanding FXPOI -- 12.Premutation-Associated Disorders in Childhood and Adulthood -- 13.Genetic Counseling for FXTAS and Fragile X-associated disorders. .

This book should serve as a resource for professionals in all fields regarding diagnosis, management, and counseling of patients with FXTAS, FXPOI and their families, as well as presenting the molecular basis for disease that may lead to the identification of new markers to predict disease risk and eventually lead to target treatments. The book will present information on all aspects of FXTAS, FXPOI and other premutation disorders including clinical features and current supportive management, radiological, psychological, and pathological findings, genotype-phenotype relationships, animal models and basic molecular mechanisms. Genetic counseling issues are also discussed.

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