Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n.
|
1675488 |
1991 |
Fragile X Syndrome
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
|
1710175 |
1991 |
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
To study the involvement of the FMR-1 gene in the fragile X syndrome, its expression was studied in lymphoblastoid cell lines and leukocytes derived from patients and normal controls.
|
1878973 |
1991 |
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Localization of the brain-expressed FMR-1 gene to this EcoRI fragment suggests the involvement of this gene in the phenotypic expression of the fragile X syndrome.
|
1710175 |
1991 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In this study, 40 families segregating for fragile X [fra (X)] syndrome were examined for the presence of a mutation within the FMR-1 gene.
|
1605198 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The fragile X [fra(X)] syndrome is the most frequent form of inherited mental retardation, and co-segregates with a fragile site at Xq27.3 as well as with insertion of a variable number of trinucleotide repeats in the 5'-end of the FMR-1 gene.
|
1605199 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
These data support the hypothesis that loss of function of the FMR-1 gene leads to the clinical phenotype of the fragile-X syndrome.
|
1642231 |
1992 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
These recombination events were used to define the position of Fmr-1, the murine homologue of FMR1, which is the gene implicated in the fragile X syndrome in man, and that of DXS296h, the murine homologue of DXS296.
|
1572655 |
1992 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
The mother shows a premutation (small unmethylated insertion) in her FMR-1 gene as the sole manifestation of the fragile X syndrome.
|
1307252 |
1992 |
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
DNA methylation represses FMR-1 transcription in fragile X syndrome.
|
1301913 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This finding confirms that the fragile X phenotype can exist, without amplification of the CCG repeat or cytogenetic expression of the fragile X, and that fragile X syndrome is a genetically homogeneous disorder involving FMR1.
|
1302032 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The mutation that underlies the fragile X syndrome is presumed to be a large expansion in the number of CGG repeats within the gene FMR-1.
|
1427787 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Population genetics of the fragile-X syndrome: multiallelic model for the FMR1 locus.
|
1570349 |
1992 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is associated with massive expansion of a CGG trinucleotide repeat within the FMR-1 gene and transcriptional silencing of the gene due to abnormal methylation.
|
8358432 |
1993 |
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome.
|
8268919 |
1993 |
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
In the case of fragile X syndrome, sequences adjacent to the repeat are methylated in affected individuals and the FMR1 gene is transcriptionally inactive.
|
8242066 |
1993 |
Fragile X Syndrome
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
|
8490651 |
1993 |
Fragile X Syndrome
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
BEFREE |
Association of fragile X syndrome with delayed replication of the FMR1 gene.
|
8324827 |
1993 |
Fragile X Syndrome
|
1.000 |
PosttranslationalModification
|
disease |
BEFREE |
The results described here indicate that some "nonpenetrant" carrier males may have varying amounts of methylation of the FMR-1 region, which can result in mild expression of the fragile X syndrome.
|
8213810 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
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 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Tissue specific expression of FMR-1 provides evidence for a functional role in fragile X syndrome.
|
8490651 |
1993 |
Fragile X Syndrome
|
1.000 |
Biomarker
|
disease |
CLINGEN |
Fragile X mental retardation syndrome is caused by the unstable expansion of a CGG repeat in the FMR-1 gene.
|
8401578 |
1993 |