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Book
Le syndrome de Turner
Authors: ---
ISBN: 1282333291 9786612333293 2287878556 Year: 2009 Publisher: Paris : Springer-Verlag,

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Abstract

Le syndrome de Turner touche 1 naissance sur 2500 et atteint exclusivement les filles. Il est dû à une anomalie de nombre ou de structure du chromosome X qui est responsable d'une petite taille, d'une dysgénésie gonadique et d'atteintes polyviscérales. Depuis vingt ans la prise en charge pédiatrique a révolutionné le devenir de ces enfants grâce aux traitements par hormone de croissance et par estrogènes. Une synthèse des connaissances cliniques relatives à chaque spécialité était nécessaire de manière à développer une approche pluridisciplinaire indispensable dans ce type d'affection. Cet ouv


Book
Medische genetica
Author:
ISBN: 9063481136 Year: 1984 Publisher: Utrecht : Bunge,


Book
Human reproductive genetics : emerging technologies and clinical applications
Authors: ---
ISBN: 0128165618 9780128167496 0128167491 9780128165614 Year: 2020 Publisher: London : Academic Press,


Periodical
Cytology and genetics.
Author:
ISSN: 19349440 00954527 Year: 1974 Publisher: [New York] : Allerton Press


Book
Albinism in Africa : historical, geographic, medical, genetic, and psychosocial aspects
Authors: ---
ISBN: 0128133171 0128133163 9780128133170 9780128133163 Year: 2018 Publisher: London, England : Academic Press,

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Abstract

Albinism in Africa: Historical, Geographic, Medical, Genetic, and Psychosocial Aspects provides the first in-depth reference for understanding and treating patients of human albinism in Africa. Leading international contributors examine the historical, geographic, psychosocial, genetic and molecular considerations of importance in effectively and sensitively managing this genetic disorder. Foundational chapters covering the historical and psychosocial aspects of albinism are supplemented by discussions of the pathobiology of the disease, as well as a thorough analysis of the genetics of skin pigmentation, eye pigmentation, hair pigmentation, and incidents of skin cancer involved in the manifestations of this disorder. New prenatal diagnostics and genetic testing methods, genetic risk assessment for individuals, families, and communities, and novel genetic markers that may be used for developing new therapeutics for treating albinism are also discussed in detail. The book provides care management approaches that may be applied to instances of albinism in other regions, along with guiding principles for treating rare genetic disorders and stigmatized patient populations across the globe.


Book
Handbook of clinical adult genetics and genomics : a practice-based approach
Authors: --- ---
ISBN: 0128173440 9780128173459 0128173459 9780128173442 Year: 2020 Publisher: London : Academic Press,


Book
Medical epigenetics
Author:
ISBN: 0128243260 012823928X 9780128239285 9780128243268 Year: 2021 Publisher: London, England : Academic Press,

X-linked Intellectual disability
Authors: --- ---
ISBN: 1280831308 9786610831302 0199771669 9780199771660 0195129814 9780195129816 9781280831300 6610831300 Year: 2000 Publisher: [Place of publication not identified] Oxford University Press

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Abstract

This is a comprehensive and up-to-date survey of mental retardation caused by genes on the X chromosome. Clinical and laboratory data on 130 syndromes are presented in a concise and consistent manner. Each syndrome is defined and information is provided on somatic features, growth and development, neurological signs, cognitive performance, imaging and other laboratory findings, and when possible, the nature and localization of the responsible gene. Craniofacial and other somatic findings are extensively illustrated. A differential matrix accompanies each syndrome description to assist the reader in identifying other X-linked syndromes with overlapping features. As background, the X chromosome and the emergence of the concept of X-linked mental retardation are discussed.; X-chromosome maps show the location and mapping limits of the responsible genes. The authors have extensive experience in the clinical and laboratory delineation of X-linked mental retardation. They have described new syndromes, regionally mapped disease loci on the X chromosome, and in several cases isolated the genes responsible for X-linked syndromes.


Periodical
American journal of medical genetics : part A
Author:
ISSN: 15524825 15524833 Year: 2003 Publisher: Bognor Regis


Periodical
American journal of medical genetics.
Author:
ISSN: 15524868 15524876 Year: 2003 Publisher: [Hoboken, N.J.] : Wiley-Liss, Inc.,

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