| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | group | BEFREE | Fragile X syndrome, the second most common genetic cause of mental retardation, is due to the expansion of a trinucleotide repeat (CGG)n within the first exon of the FMR-1 gene. | 18712171 | 2008 | ||||
|
0.090 | GeneticVariation | group | 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 | ||||
|
0.090 | Biomarker | group | BEFREE | A 6-year experience demonstrates the utility of screening for both cytogenetic and FMR-1 abnormalities in patients with mental retardation. | 10495929 | 1999 | ||||
|
0.090 | 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 | ||||
|
0.090 | 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 | ||||
|
0.090 | 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 | ||||
|
0.090 | 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 | ||||
|
0.090 | GeneticVariation | group | BEFREE | A point mutation in the FMR-1 gene associated with fragile X mental retardation. | 8490650 | 1993 | ||||
|
0.090 | 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 |