Nonsyndromic X-linked mental retardation: where are the missing mutations?
about
The DNA sequence of the human X chromosomeMutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation.Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationMutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation.TM4SF10 gene sequencing in XLMR patients identifies common polymorphisms but no disease-associated mutationDisruption of a new X linked gene highly expressed in brain in a family with two mentally retarded malesMutations in the DLG3 gene cause nonsyndromic X-linked mental retardationA novel mutation in JARID1C gene associated with mental retardation.Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.Molecular and comparative genetics of mental retardation.A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis.The genetic basis for sex differences in human behaviour: role of the sex chromosomes.FoSTeS, MMBIR and NAHR at the human proximal Xp region and the mechanisms of human Xq isochromosome formationX linked mental retardation: a clinical guide.A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.Lessons learnt from large-scale exon re-sequencing of the X chromosomeComplex segmental duplications mediate a recurrent dup(X)(p11.22-p11.23) associated with mental retardation, speech delay, and EEG anomalies in males and females.Bioinformatical assay of human gene morbidityX-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11.Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Reply to Mandel.Phf8 histone demethylase deficiency causes cognitive impairments through the mTOR pathway.Screening of the ARX gene in 682 retarded males.MLPA as first screening method for the detection of microduplications and microdeletions in patients with X-linked mental retardation.Loss of ZDHHC15 expression in a woman with a balanced translocation t(X;15)(q13.3;cen) and severe mental retardation.X-linked mental retardation
P2860
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P2860
Nonsyndromic X-linked mental retardation: where are the missing mutations?
description
2003 nî lūn-bûn
@nan
2003 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2003 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2003年の論文
@ja
2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@ast
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@en
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@nl
type
label
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@ast
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@en
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@nl
prefLabel
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@ast
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@en
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@nl
P2093
P50
P1433
P1476
Nonsyndromic X-linked mental retardation: where are the missing mutations?
@en
P2093
Claude Moraine
Hans-Hilger Ropers
Helger Yntema
Jamel Chelly
Jean-Pierre Fryns
Michael Partington
P304
P356
10.1016/S0168-9525(03)00113-6
P577
2003-06-01T00:00:00Z