Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
about
Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palateA regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXThe c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansionsMutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division.Mutations in ARX Result in Several Defects Involving GABAergic Neurons.Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation.Altered GABA signaling in early life epilepsies.Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach.Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?Identification of Arx transcriptional targets in the developing basal forebrain.CDKL5 and ARX mutations in males with early-onset epilepsy.Genetics, molecular biology, and phenotypes of x-linked epilepsy.Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.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.Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene.Asymmetric polymicrogyria and periventricular nodular heterotopia due to mutation in ARXA novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generationsRegulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor
P2860
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P2860
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
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
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2004年学术文章
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2004年学术文章
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name
Three new families with X-linked mental retardation caused by the 428-451dup
@nl
Three new families with X-link ...... -451dup(24bp) mutation in ARX.
@en
type
label
Three new families with X-linked mental retardation caused by the 428-451dup
@nl
Three new families with X-link ...... -451dup(24bp) mutation in ARX.
@en
prefLabel
Three new families with X-linked mental retardation caused by the 428-451dup
@nl
Three new families with X-link ...... -451dup(24bp) mutation in ARX.
@en
P2093
P1433
P1476
Three new families with X-link ...... -451dup(24bp) mutation in ARX.
@en
P2093
P2860
P356
10.1111/J.0009-9163.2004.00268.X
P50
P577
2004-07-01T00:00:00Z