A novel mutation of the ARX gene in a male with nonsyndromic mental retardation.

scientific article published on June 2007

A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1177/0883073807304000
P698PubMed publication ID17641262

P50authorVinodh NarayananQ55873493
P2093author name stringMatthew M Troester
Tamara Trachtenberg
P2860cites workHuman ARX gene: genomic characterization and expressionQ28160539
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyQ28206529
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardationQ28215614
X-linked myoclonic epilepsy with spasticity and intellectual disability: mutation in the homeobox gene ARXQ28217919
X-linked mental retardation with dystonic movements of the handsQ28292150
The phenotypic spectrum of ARX mutationsQ28307080
Nonsyndromic X-linked mental retardation: where are the missing mutations?Q34205119
X-linked mental retardation: further lumping, splitting and emerging phenotypesQ36109138
Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationQ41921583
New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosumQ41930382
X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findingsQ42518598
Monogenic X-linked mental retardation: is it as frequent as currently estimated? The paradox of the ARX (Aristaless X) mutations.Q43804873
Screening of the ARX gene in 682 retarded males.Q47336770
P433issue6
P1104number of pages5
P304page(s)744-748
P577publication date2007-06-01
P1433published inJournal of Child NeurologyQ6294935
P1476titleA novel mutation of the ARX gene in a male with nonsyndromic mental retardation
P478volume22

Reverse relations

cites work (P2860)
Q57733973A novel de novo 27 bp duplication of theARXgene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
Q48887866A 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
Q37761093ARX spectrum disorders: making inroads into the molecular pathology
Q57529907Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms
Q50773650Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders.
Q33641779Mutations 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
Q34283901The genetic basis of non-syndromic intellectual disability: a review
Q35648072Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

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