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GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: A proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism / G. Robert DELONG in Autism, 11-2 (March 2007)
[article]
Titre : GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: A proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism Type de document : Texte imprimé et/ou numérique Auteurs : G. Robert DELONG, Auteur Année de publication : 2007 Article en page(s) : p.135-147 Langues : Anglais (eng) Mots-clés : Bipolar-disorder GABRA5 Grandmatrilineal Inheritance Special-abilities Index. décimale : PER Périodiques Résumé : Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective disorder, special talents or intellectual ability, and familial patterns of trait transmission, with the additional feature of oculocutaneous albinism in some cases. These observations, suggesting parent-of-origin and gain-of-function effects, considered together with recent genetic findings in the literature, suggest a genetic hypothesis possibly unifying disparate observations found in families of individuals with autism. En ligne : http://dx.doi.org/10.1177/1362361307075705 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=666
in Autism > 11-2 (March 2007) . - p.135-147[article] GABA(A) receptor alpha5 subunit as a candidate gene for autism and bipolar disorder: A proposed endophenotype with parent-of-origin and gain-of-function features,with or without oculocutaneous albinism [Texte imprimé et/ou numérique] / G. Robert DELONG, Auteur . - 2007 . - p.135-147.
Langues : Anglais (eng)
in Autism > 11-2 (March 2007) . - p.135-147
Mots-clés : Bipolar-disorder GABRA5 Grandmatrilineal Inheritance Special-abilities Index. décimale : PER Périodiques Résumé : Our earlier family history studies of individuals with autism found a high incidence of major affective disorder, especially bipolar disorder, and unusual talents or intellectual abilities among family members. We now describe a subgroup of such families, selected from a large clinical experience, illustrating specific features of major affective disorder, special talents or intellectual ability, and familial patterns of trait transmission, with the additional feature of oculocutaneous albinism in some cases. These observations, suggesting parent-of-origin and gain-of-function effects, considered together with recent genetic findings in the literature, suggest a genetic hypothesis possibly unifying disparate observations found in families of individuals with autism. En ligne : http://dx.doi.org/10.1177/1362361307075705 Permalink : https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=666