Mental Retardation, X-Linked
|
0.400 |
Biomarker
|
disease |
BEFREE |
We also analyzed ACSL4 and DLG3, which have previously been known to cause XLMR and IL1RAPL2, a homologous gene for IL1RAPL1 that is mutated in autism and XLMR.
|
21384559 |
2011 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
This study should help to identify the novel XLMR genes and mechanisms leading to MR and reveal the clinical conditions and genomic background of XLMR.
|
20613765 |
2010 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
|
15185169 |
2004 |
Mental Retardation, X-Linked
|
0.400 |
Biomarker
|
disease |
CTD_human |
Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation.
|
15185169 |
2004 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To validate SOX3 as an X-linked mental retardation (XLMR) gene, we performed mutation analyses in families with XLMR whose causative gene mapped to Xq26-q27.
|
12428212 |
2002 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Most considerably, genotype-phenotype correlation studies of affected individuals in XLMR families with MRX gene mutations are necessary to define the criteria of MRX vs MRXS subclassification.
|
12485186 |
2002 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Here we report on the localization of a presumptive MRX gene to chromosomal region Xq24-q26 in a German family with nonspecific X-linked mental retardation (MRX 75, HUGO Human Gene Nomenclature Committee).
|
10946355 |
2000 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Thorough investigation of an MRX critical region in Xp22.1-21.3 enabled us to identify a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation.
|
10471494 |
1999 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene.
|
10644430 |
1999 |
Mental Retardation, X-Linked
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
MRX genes of 2 families with X-linked mental retardation (XLMR) were localized by linkage analysis.
|
8826456 |
1996 |
Mental Retardation, X-Linked
|
0.400 |
Biomarker
|
disease |
BEFREE |
We report on a family with 4 affected males in 3 generations with a previously unreported X-linked mental retardation/multiple congenital anomaly (XLMR/MCA) syndrome.
|
6538755 |
1984 |
Mental Retardation, X-Linked
|
0.400 |
Biomarker
|
disease |
BEFREE |
Golabi and Rosen (1984) have reported on a new X-linked mental retardation/multiple congenital anomalies (XLMR/MCA) syndrome of pre- and postnatal overgrowth, characteristic "coarse" facial appearance with macrostomia, midline groove of tongue, lower alveolar ridge and lip, submucous cleft of palate, supernumerary nipples, intestinal anomalies, supernumerary pair of ribs, anomalies of sacrum and tailbone, hypoplastic index fingernails, postaxial polydactyly and other digital anomalies.
|
6538756 |
1984 |