Clinical and molecular contributions to the understanding of X-linked mental retardation.

Clinical and molecular contributions to the understanding of X-linked mental retardation.

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http://www.wikidata.org/entity/Q35192750
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephalyAllan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) geneX-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin familyA novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palateGolabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 geneDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesThe reduced expression of the HADH2 protein causes X-linked mental retardation, choreoathetosis, and abnormal behaviorThe role of neuronal complexes in human X-linked brain diseasesXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneFragile X and X-linked intellectual disability: four decades of discoveryIncontinentia pigmenti: learning disabilities are a fundamental hallmark of the disease.X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.Double Xp11.22 deletion including SHROOM4 and CLCN5 associated with severe psychomotor retardation and Dent diseaseMutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans.Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Microdeletion of Xq28 involving the AFF2 (FMR2) gene in two unrelated males with developmental delay.
P2860

Clinical and molecular contributions to the understanding of X-linked mental retardation.

Item
http://www.wikidata.org/entity/Q35192750
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2002 nî lūn-bûn
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2002 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
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name
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@ast
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@en
type
label
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@ast
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@en
prefLabel
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@ast
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@en
P1433
P1476
P2093
P304
P31
P356
P433
P478
P577
P698
P356
P1433
P1476
Clinical and molecular contributions to the understanding of X-linked mental retardation.
@en
P2093
P304
P31
P356
P433
P478
P577
P698