Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
about
UBE2A, which encodes a ubiquitin-conjugating enzyme, is mutated in a novel X-linked mental retardation syndromeXLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) geneMouse Genetic Models of Human Brain DisordersScreening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palateMRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsA higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.The genetic basis of non-syndromic intellectual disability: a reviewZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation.Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.Genetics and pathophysiology of mental retardation.XLMR genes: update 2007.Homozygosity mapping in outbred families with mental retardation.Single gene disorders come into focus--again.Brain volume reductions within multiple cognitive systems in male preterm children at age twelveSearching for Copy Number Changes in Nonsyndromic X-Linked Intellectual Disability.X linked mental retardation: a clinical guide.Rho-linked genes and neurological disorders.A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.CNV analysis in Chinese children of mental retardation highlights a sex differentiation in parental contribution to de novo and inherited mutational burdensA new chromosome x exon-specific microarray platform for screening of patients with X-linked disorders.Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect.Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation.Mutation screening of brain-expressed X-chromosomal miRNA genes in 464 patients with nonsyndromic X-linked mental retardation.A novel mutation in the aristaless domain of the ARX gene leads to Ohtahara syndrome, global developmental delay, and ambiguous genitalia in males and neuropsychiatric disorders in females.Commentary on "A Role for the X Chromosome in Sex Differences in Variability in General Intelligence?" (Johnson et al., 2009).Fragile X checklists: A meta-analysis and development of a simplified universal clinical checklist.AGTR2 in brain development and function.A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.X-linked mental retardationARX polyalanine expansions are highly implicated in familial cases of mental retardation with infantile epilepsy and/or hand dystonia
P2860
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P2860
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.
description
2004 nî lūn-bûn
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2004年の論文
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2004年学术文章
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2004年学术文章
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2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
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2004年学术文章
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2004年學術文章
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2004年學術文章
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name
Monogenic X-linked mental reta ...... ARX (Aristaless X) mutations.
@en
Monogenic X-linked mental reta ...... imated? The paradox of the ARX
@nl
type
label
Monogenic X-linked mental reta ...... ARX (Aristaless X) mutations.
@en
Monogenic X-linked mental reta ...... imated? The paradox of the ARX
@nl
prefLabel
Monogenic X-linked mental reta ...... ARX (Aristaless X) mutations.
@en
Monogenic X-linked mental reta ...... imated? The paradox of the ARX
@nl
P2860
P356
P1476
Monogenic X-linked mental reta ...... e ARX (Aristaless X) mutations
@en
P2093
Jamel Chelly
P2860
P2888
P304
P356
10.1038/SJ.EJHG.5201247
P577
2004-09-01T00:00:00Z
P5875
P6179
1044953218