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FXTAS, FXPOI, and Other Premutation Disorders

Record Type:	Language materials, printed : Monograph/item
Title/Author:	FXTAS, FXPOI, and Other Premutation Disorders/ edited by Flora Tassone, Deborah A. Hall.
other author:	Tassone, Flora.
Description:	IX, 293 p. 22 illus., 12 illus. in color.online resource. :
Contained By:	Springer Nature eBook
Subject:	Human genetics. -
Online resource:	https://doi.org/10.1007/978-3-319-33898-9
ISBN:	9783319338989

FXTAS, FXPOI, and Other Premutation Disorders
FXTAS, FXPOI, and Other Premutation Disorders[electronic resource] /edited by Flora Tassone, Deborah A. Hall. - 2nd ed. 2016. - IX, 293 p. 22 illus., 12 illus. in color.online resource.

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.

ISBN: 9783319338989

Standard No.: 10.1007/978-3-319-33898-9doiSubjects--Topical Terms:

596505
Human genetics.

LC Class. No.: RB155-155.8

Dewey Class. No.: 611.01816

FXTAS, FXPOI, and Other Premutation Disorders
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505 0 $a 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. .
520 $a 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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