|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR).
|
18835247 |
2008 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The authors report a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation and review the spectrum of ARX mutations.
|
17641262 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Aristaless-related homeobox gene, ARX, have been a cause of X-linked mental retardation (XLMR) and are responsible for a vast phenotypic spectrum including syndromic and non-syndromic forms of mental retardation.
|
17613295 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Mutations in the Aristaless-related homeobox gene, ARX, have been a cause of X-linked mental retardation (XLMR) and are responsible for a vast phenotypic spectrum including syndromic and non-syndromic forms of mental retardation.
|
17613295 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
The Aristaless-related homeobox gene (ARX) is one of the major genes causing X-linked mental retardation.
|
17490853 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the Aristaless related homeobox (ARX) gene are associated with a broad spectrum of disorders, including nonsyndromic X-linked mental retardation, sometimes associated with epilepsy, as well as syndromic forms with brain abnormalities and abnormal genitalia.
|
17044103 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
The authors report a novel 24-bp in-frame deletion within exon 2 of the ARX gene in a male child with X-linked mental retardation and review the spectrum of ARX mutations.
|
17641262 |
2007 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
|
17082467 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This study confirms that the frequency of ARX mutations is high in XLMR, and the analysis of ARX in MRX should not be limited to duplication.
|
16235064 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our results confirm the significant contribution of ARX mutations in the etiology of MR, especially in this group of patients selected for XLMR (3%).
|
16523516 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
LHGDN |
Our results confirm the significant contribution of ARX mutations in the etiology of MR, especially in this group of patients selected for XLMR (3%).
|
16523516 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation.
|
17082467 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation.
|
16762829 |
2006 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have identified 4 additional XLMR families with the ARX dup24 mutation from a panel of 11 XLMR families linked to Xp22.1.
|
15850492 |
2005 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Maternal mosaicism for mutations in the ARX gene in a family with X linked mental retardation.
|
16078051 |
2005 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Three new families with X-linked mental retardation caused by the 428-451dup(24bp) mutation in ARX.
|
15200506 |
2004 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, forms of syndromic and nonspecific X-linked mental retardation have been found to be associated with mutations in the Aristaless-related homeobox gene ARX.
|
12874405 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We describe a 72 year old man with X-linked mental retardation due to a 24 bp duplication mutation in exon 2 of the ARX gene.
|
12640086 |
2003 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Partington et al.[1988] described a three-generation family (MRXS1, MIM *309510, PRTS) with a syndromic form of X-linked mental retardation (XLMR).
|
12376938 |
2002 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, it would seem that mutation of ARX is a major contributor to X-linked mental retardation and epilepsy.
|
11889467 |
2002 |
|
Mental Retardation, X-Linked
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Investigation of a critical region for an X-linked mental retardation (XLMR) locus led us to identify a novel Aristaless related homeobox gene (ARX ).
|
11971879 |
2002 |
|
Mental Retardation, X-Linked
|
0.100 |
Biomarker
|
disease |
BEFREE |
Nonsyndromic X-linked mental retardation: review and mapping of MRX29 to Xp21.
|
9001795 |
1996 |