About: ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia

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About: ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia Goto Sponge NotDistinct Permalink

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scientific article published on 01 January 2011

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rdf:type	Item
description	wetenschappelijk artikel (nl) article scientifique (publié 2011) (fr) наукова стаття, опублікована в грудні 2010 (uk) im Januar 2011 veröffentlichter wissenschaftlicher Artikel (de) artículu científicu espublizáu en xineru de 2011 (ast) artikull shkencor i botuar më 01 janar 2011 (sq) scientific article published on 01 January 2011 (en)
publication date	wds:Q57387330-412AC52A-C1F4-4FA1-976B-D1A325BA804A
publication date	2011-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q57387330-CDC61FED-6DE9-4E63-9802-DE0E9B5365C0
language of work or name	English
cites work	wds:Q57387330-147DC63B-9C72-40D5-9C3F-C3DF44321357 wds:Q57387330-1608D872-8A23-4FD4-BE6C-923BA25BEB4A wds:Q57387330-22F190D1-493D-489C-ABA1-9E872218DCE3 wds:Q57387330-4355C226-974A-492C-86B8-2E90F6F474CA wds:Q57387330-5124BCBC-8222-4831-8C06-E494DAA5D53C wds:Q57387330-58CF1227-C65A-4ADF-90F6-C34FD8E22960 wds:Q57387330-5E6AEDDF-C1C1-4220-AC9F-75CD38790721 wds:Q57387330-68C7D66D-9897-4C0F-AF3C-2C9799332702 wds:Q57387330-697CD7C4-63FC-4461-8AF4-44BFEC42F166 wds:Q57387330-86AEED7E-A5B6-4050-8A9B-D62A41D32343 wds:Q57387330-8F55EDDF-896C-418D-9D43-ADD76B518D5F wds:Q57387330-9A012019-93E4-43C3-89E8-17089041075E wds:Q57387330-ACFF608C-D5DB-4628-B7CA-88A10C8A7936 wds:Q57387330-B11E4D0E-0D39-4316-9FDC-ADF111BCC9D2 wds:Q57387330-C42FB2EC-C6C8-4852-A9AF-A82C267D3644 wds:Q57387330-C838520A-DCBF-40C5-A69F-E76478F26F4C wds:Q57387330-C89307D7-D718-40E4-AD28-11CF07BB3776 wds:Q57387330-DE263F99-4A7E-4CBE-866A-14447CAAA6AA wds:Q57387330-E0C0D9B6-0E41-4864-99A0-CEC229F5CF62 wds:Q57387330-E6C93797-E282-4310-A7C5-9A458E4C1DAB wds:Q57387330-ECB4C3CA-B5A7-4EFB-B543-FDD6740572FA wds:Q57387330-F553A426-BF09-4E18-9B99-8C087DE7751B wds:Q57387330-F9EAB5A7-11AD-4BA2-A6A8-861D11A89589
cites work	An assay for X inactivation based on differential methylation at the fragile X locus, FMR1. X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARX A comprehensive genetic map of the human genome based on 5,264 microsatellites Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy Variable expression of mental retardation, autism, seizures, and dystonic hand movements in two families with an identical ARX gene mutation ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females ARX: a gene for all seasons Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations. Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus. Human ARX gene: genomic characterization and expression A novel ARX phenotype: rapid neurodegeneration with Ohtahara syndrome and a dyskinetic movement disorder. Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome Screening of the ARX gene in 682 retarded males. Screening of ARX in mental retardation families: Consequences for the strategy of molecular diagnosis. The ARX mutations: a frequent cause of X-linked mental retardation. Mutational screening of ARX gene in Brazilian males with mental retardation of unknown etiology. Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand.
author name string	wds:Q57387330-0680AD9F-79C3-4B0E-88DF-34C65B0381EC wds:Q57387330-2C893476-8C3A-4EAF-A5D9-459A11E72592 wds:Q57387330-2F3A4055-C9E1-45E0-8E39-AE7D7D07A460 wds:Q57387330-62F39FF9-D36B-4BB4-9E40-375BE887DC4D wds:Q57387330-8115488D-774A-4175-A898-DE239AAEBDBA wds:Q57387330-B21CF7F8-1B77-4A13-BE91-8204AA762982 wds:Q57387330-C511B37B-A334-4878-8F56-FDE58DBDB289 wds:Q57387330-D84AD137-D4F3-4EC9-BFAA-F86A7DD500E8 wds:Q57387330-EC0915E5-226F-41E9-AD45-5525DDD01352
author name string	Bruno Leheup Bruno Delobel Christophe Philippe Laurence Faivre Bénédicte Demeer Jean-François Lemaitre Sophie Julia Mireille Cossée Heifa Hichri
rdfs:label	ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (en) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (nl) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (sq)
skos:prefLabel	ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (en) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (nl) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (sq)
name	ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (en) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (nl) ARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia (sq)
author	wds:Q57387330-067801E2-9D56-480A-BFC3-5365BE5ED815 wds:Q57387330-26203301-27CB-4775-84B6-F7482147DC17 wds:Q57387330-2AF4A3DC-B749-45BB-A3EC-6DA0557BD3DE wds:Q57387330-6677FF89-A78A-42D3-BF6B-CBDEA37C9A12 wds:Q57387330-911DB5FD-CDB7-4E96-9618-BC84F692B01C wds:Q57387330-A1BCCBA2-6C3E-46C4-A82F-80D3A1640FFC wds:Q57387330-AD7A18A2-C825-4AF0-A715-51F182300940 wds:Q57387330-AEA1E97F-29C2-434D-9876-0012994D170E wds:Q57387330-D9006143-AA01-4BB3-9AAE-827677177253
author	Jean-Louis Mandel Didier Devys Nadia Bahi-Buisson Karine Poirier Jamel Chelly Anne de Saint-Martin

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