The fragile X continuum: new advances and perspectives
Identifieur interne : 002259 ( Main/Curation ); précédent : 002258; suivant : 002260The fragile X continuum: new advances and perspectives
Auteurs : K. Cornish [Canada] ; J. Turk [Royaume-Uni] ; R. Hagerman [États-Unis]Source :
- Journal of Intellectual Disability Research [ 0964-2633 ] ; 2008-06.
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Abstract
Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene‐1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a decade of exciting and innovative science that has advanced our knowledge about the fragile X ‘signature’ or influence across cognitive and social development. The core aims of this review are to first discuss fragile X syndrome and premutation involvement in the context of current advances that demonstrate the dynamic nature of the genotype on phenotypic outcomes. Second, to discuss the implications of these recent advances for the development of clinical and educational interventions and resource tools that target specific phenotypic ‘signatures’ within the fragile X continuum.
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DOI: 10.1111/j.1365-2788.2008.01056.x
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Institute, University of California at Davis, School of Medicine, Sacramento, CA</wicri:regionArea><placeName><region type="state">Californie</region></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Intellectual Disability Research</title><idno type="ISSN">0964-2633</idno><idno type="eISSN">1365-2788</idno><imprint><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2008-06">2008-06</date><biblScope unit="volume">52</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="469">469</biblScope><biblScope unit="page" to="482">482</biblScope></imprint><idno type="ISSN">0964-2633</idno></series><idno type="istex">7AFE628C6CE5A070C80752D492F6E959AC67D375</idno><idno type="DOI">10.1111/j.1365-2788.2008.01056.x</idno><idno type="ArticleID">JIR1056</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-2633</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>FMRP</term><term>FXTAS</term><term>autism</term><term>fragile X syndrome</term><term>intellectual disability</term><term>premutation</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Fragile X syndrome is the world's most common hereditary cause of intellectual disability in men and to a lesser extent in women. The disorder is caused by the silencing of a single gene on the X chromosome, the Fragile X Mental Retardation Gene‐1. A substantial body of research across the disciplines of molecular genetics, child psychiatry and developmental neuroscience bears testament to a decade of exciting and innovative science that has advanced our knowledge about the fragile X ‘signature’ or influence across cognitive and social development. The core aims of this review are to first discuss fragile X syndrome and premutation involvement in the context of current advances that demonstrate the dynamic nature of the genotype on phenotypic outcomes. Second, to discuss the implications of these recent advances for the development of clinical and educational interventions and resource tools that target specific phenotypic ‘signatures’ within the fragile X continuum.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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