Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
This dinucleotide repeat could be useful in determining the parental origin of a new fra (X) mutations and evaluating the role of FMR-1 in X-linked non-specific mental retardation.
|
1605197 |
1992 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The fragile-X syndrome of mental retardation is associated with an expansion in the number of CGG repeats present in the FMR1 gene.
|
1301165 |
1992 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The normal function of the FMR1 protein (FMRP) and the mechanism by which its absence leads to mental retardation are unknown.
|
7692601 |
1993 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
The early transcription of FMR-1 gene and the distribution of FMR-1 mRNAs in human fetuses suggest that alterations of FMR-1 gene expression may contribute to the pathogenesis of fragile-X syndrome and especially the mental retardation.
|
8348153 |
1993 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
A point mutation in the FMR-1 gene associated with fragile X mental retardation.
|
8490650 |
1993 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Two brothers were discordant for the region containing the FMR1 gene; if there is a common cause for the mental retardation this is not located in the FMR1 gene.
|
7942992 |
1994 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
In this study, 977 genetically unrelated individuals from families unselected for mental retardation or fragile X were analyzed with Southern blot analysis for the presence of FMR1 mutations.
|
8012350 |
1994 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Consequently, this knockout mouse may serve as a valuable tool in the elucidation of the physiological role of FMR1 and the mechanisms involved in macroorchidism, abnormal behavior, and mental retardation.
|
8033209 |
1994 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
No mental retardation in a man with 40% abnormal methylation at the FMR-1 locus and transmission of sperm cell mutations as premutations.
|
7951239 |
1994 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The lack of FMR1 protein is believed to be responsible for the mental retardation.
|
8552426 |
1995 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Neuroanatomical differences between two monozygotic twins with an FMR-1 mutation who are discordant for mental retardation are localized to the cerebellum, lateral ventricles and subcortical nuclei.
|
7585014 |
1995 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X mental retardation syndrome, the most common cause of hereditary mental retardation, is directly associated with the FMR1 gene at Xq27.3.
|
7781595 |
1995 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Most males with the FMR1 full mutation function in the mentally retarded range of intelligence; in contrast, females with the FMR1 full mutation show a broader range of intelligence, from mental retardation to normal IQ.(ABSTRACT TRUNCATED AT 250 WORDS)
|
7581460 |
1995 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
Fragile X syndrome is the most common form of inherited mental retardation and results from the transcriptional inactivation of the FMR1 gene.
|
7726157 |
1995 |
Intellectual Disability
|
0.400 |
AlteredExpression
|
group |
BEFREE |
These deletion patients provide further confirmatory evidence that loss of FMR1 gene expression is indeed responsible for mental retardation.
|
7825604 |
1995 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Its expansion in the human FMR1 gene leads to the fragile X syndrome, one of the most frequent causes of mental retardation in human males.
|
8626781 |
1996 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The human FMR1 protein, which has two KH domains, is associated with fragile X syndrome, the most common inherited cause of mental retardation.
|
8612276 |
1996 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Fragile X syndrome is a frequent cause of mental retardation resulting from the absence of FMRP, the protein encoded by the FMR1 gene.
|
8842725 |
1996 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
The FMR-1 gene for the human fragile-chi syndrome, a mental retardation disease inherited by non-Mendelian transmission, contains a genetically unstable CGG region in the 5' non-translated region.
|
8636996 |
1996 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The transcriptional silencing of the human gene, fragile X mental retardation 1 (FMR1), is due to abnormal methylation in response to an expanded 5'-untranslated CGG trinucleotide repeat and accounts for most cases of fragile X syndrome, a frequent inherited form of mental retardation.
|
8808273 |
1996 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Fragile X syndrome is caused by mutations in the FMR1 gene and is one of the most frequent forms of inherited mental retardation in males.
|
9132500 |
1997 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
The fragile X syndrome is caused by the amplification of a polymorphic CGG repeat in the 5' untranslated region of the FMR1 gene and is the most common form of inherited mental retardation.
|
9211186 |
1997 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
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 |
Intellectual Disability
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation.
|
9341861 |
1997 |
Intellectual Disability
|
0.400 |
Biomarker
|
group |
BEFREE |
Fragile X syndrome is the most frequent form of inherited mental retardation and it is caused by deficiency of FMRP, the protein encoded by the FMR1 gene.
|
9440121 |
1997 |