Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Distribution of CGG/GCC repeats at the FMR1 and FMR2 genes in an Indian population with mental retardation of unknown etiology.
|
21254876 |
2011 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
With the forthcoming identification of the gene targets that trigger Purkinje cell death in the robotic cerebellum, and the functional conservation among the ALF proteins, the robotic mouse promises to deliver important insights into the pathogenesis of human ataxia, but also of mental retardation to which FMR2 and LAF4 have been linked.
|
19340490 |
2009 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
FRAXE is associated with X-linked non-specific mental retardation, and FRA11B with Jacobsen syndrome.
|
18078840 |
2008 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
In contrast, a relationship between the second main group of fragile sites characterized by repeat expansion, the rare fragile sites, and mental retardation has been proposed many years ago, but after the molecular cloning of FRAXA and FRAXE both unequivocally involved in mental retardation, no additional fragile sites linked with mental retardation have been cloned for over a decade.
|
17567780 |
2007 |
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Reverse transcriptase PCR studies on the FMR2 and FMR3 genes showed that only the FMR3 gene transcription was abolished, suggesting a possible causal relationship between the lack of FMR3 expression and mental retardation in this patient.
|
16469443 |
2006 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mutated protein, Af4, is a member of the AF4/LAF4/FMR2 (ALF) family of putative transcription factors previously implicated in childhood leukaemia and FRAXE mental retardation.
|
16321881 |
2005 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we report molecular screening survey of 97 unrelated individuals diagnosed with non-specific mental retardation (MR), which produced positive test for FRAXA in two boys and none positive for the FRAXE mutation.
|
14668200 |
2004 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FRAXE syndrome is distinct from fragile X syndrome, a more common genetic form of mental retardation caused by expansion and methylation of a similar repeat in the FMR1 gene located 600 kb proximal to FRAXE.
|
14526173 |
2003 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Three individuals (2.6%) with the FRAXA form of the fragile X syndrome and one boy (0.9%) with FRAXE mental retardation were detected; a total of four newly diagnosed fragile X families were identified.
|
12113322 |
2002 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Molecular screening of FRAXA and FRAXE in Indian patients with unexplained mental retardation.
|
12537661 |
2002 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review summarises the new data on FRAXE associated mental retardation and the FMR2 gene in the light of the recent discoveries of new genes responsible for other forms of non-specific X-linked mental retardation.
|
11246464 |
2000 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
If confirmed by future studies, these neurophysiological findings might be considered as a marker for FRAXE mental retardation.
|
10964075 |
2000 |
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The presence of a phenotypically normal male with absent FMR2 expression in fibroblasts suggests that the relationship between the FRAXE mutation, FMR2 expression and MR needs to be further investigated.
|
10780779 |
2000 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 321 patients with nonspecific MR were screened for the FMR1 and FMR2 mutation.
|
10850542 |
2000 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The transcriptional silencing of the FMR2 gene has been implicated in FRAXE mental retardation.
|
10651894 |
2000 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim of this population screening study was to determine if Fra-X or FRAXE mutations are the cause of a number of cases of mental retardation in a sample of Mexican children with mental retardation of unknown cause (MRUC) and to stress the importance of performing molecular analysis of the FMR-1 gene in all patients with MRUC.
|
10818218 |
2000 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations at FRAXA and FRAXE loci are due to expansions of a CGG trinucleotide repeat and are characterized by mental retardation.
|
9523214 |
1998 |
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The FRAXE fragile site, 600 Kb distal to the more common FRAXA, has been reported to be expressed in subjects with mild nonsyndromal mental retardation.
|
9475603 |
1998 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We examined the prevalence of the fragile X mental retardation (FMR1) full mutation and fragile X E mutation (FMR2) among preschoolers evaluated for language delay.
|
9602188 |
1998 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
FMR2 is the gene associated with FRAXE mental retardation.
|
9299237 |
1997 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These results suggest that neither the FMR1 nor the FMR2 mutation is a common etiology of academic failure among school-age children without mental retardation and that the prevalence of the FMR1 premutation is no more frequent in children with academic failure than it is in the general population.
|
9431501 |
1997 |
Mental Retardation
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
FMR2 expression in families with FRAXE mental retardation.
|
9147647 |
1997 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Expansion of a (CCG)n repeat in the FMR2 gene corresponds to the FRAXE fragile site which lies distal to FRAXA and is also associated with mental retardation, but it is less frequent and lacks a consistent phenotype.
|
9341861 |
1997 |
Mental Retardation
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Identification of the gene FMR2, associated with FRAXE mental retardation.
|
8673085 |
1996 |
Mental Retardation
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of the three X chromosome sites, FRAXA, FRAXE and FRAXF, the former two are associated with mental retardation in their expanded forms.
|
8673086 |
1996 |