|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome (FXS) develops from excessive trinucleotide CGG repeats in the 5'-untranslated region at Xq27.3 of the Fmr-1 gene, which functionally silences its expression and prevents transcription of its protein.
|
26580204 |
2015 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening.
|
20168238 |
2010 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
In order to study the effects of APP and its proteolytic product Abeta on Fragile X syndrome (FXS) phenotypes, we created a novel mouse model (FRAXAD) that over-expresses human APPSwe/Abeta in an fmr-1 KO background.
|
19918329 |
2009 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Never having been married and smaller CGG repeat length were associated with increased likelihood of MDD while increased children with FXS in the family and greater child problem behaviors were associated with increased likelihood of an anxiety disorder in the FMR 1 premutation group.
|
18553360 |
2009 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The molecular studies of FMR-1 showed that the proportion of MRUC patients with Fra-X is 3.2%.
|
10818218 |
2000 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we describe the prenatal diagnosis of fragile X syndrome and the distribution of CGG repeat numbers in the FMR-1 gene, which has not been previously reported in Taiwanese.
|
10870330 |
2000 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The AGG interspersion pattern and flanking microsatellite markers and their association with instability of the FMR1 (CGG)(n) repeat, involved in the fragile X syndrome, were analyzed in DNA from filter-paper blood spots randomly collected from the Danish newborn population.
|
10869110 |
2000 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The human FMR1 (CGG)(n) array can exhibit genetic instability characterized by progressive expansion over several generations leading to gene silencing and the development of the fragile X syndrome.
|
10409756 |
1999 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spatial performance in a group of young Fragile-X syndrome males with FMR-1 full mutation was compared to a learning disabled control group comprising young Down's syndrome males and two control groups of mainstream schoolchildren.
|
10369098 |
1999 |
|
Fragile X Syndrome
|
0.100 |
PosttranslationalModification
|
disease |
BEFREE |
Here, we provide a direct proof that the formation of hairpins by (GCC)n at the 5'-UTR of the FMR-1 gene offers a mechanism for CpG hypermethylation associated with the fragile X syndrome.
|
9761677 |
1998 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Spatial performance in a group of young Fragile-X syndrome females with FMR-1 full mutation was compared to two control groups of mainstream schoolchildren.
|
9842768 |
1998 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report on the allele distribution in a normal Chilean population at 2 microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5' end of the FMR-1 gene, which causes the fragile X syndrome.
|
9475597 |
1998 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Novel point mutation within intron 10 of FMR-1 gene causing fragile X syndrome.
|
9375856 |
1997 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene.
|
8844092 |
1996 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fragile X syndrome (fraX) is associated with an amplification of a CGG repeat within the fraX mental retardation (FMR-1) gene.
|
8844074 |
1996 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report on the allele distributions in a normal black African population at two microsatellite loci neighbouring the FRAXA locus and at the CGG repeat in the 5' end of the FMR-1 gene, which causes the fragile X syndrome.
|
8826479 |
1996 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The aim is this study is to compare the longitudinal changes in IQ scores of females and males with fragile X syndrome and controls and to assess the impact on IQ of molecular variations of the FMR-1 gene in males.
|
8844079 |
1996 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A rapid screening test was developed to detect CGG repeat expansion of the FMR-1 gene causing the fragile X syndrome by a non-radioisotope PCR technique.
|
8579216 |
1996 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that the FMR-1 mutation causing the fragile X syndrome leads to observable changes in neuroanatomy that may be relevant to the neurodevelopmental disability and behavioural problems observed in affected individuals.
|
7585014 |
1995 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our study supports the idea that major FMR-I gene expansion detectable with Southern hybridization is rare in cytogenetically normal mentally retarded males, including those with physical and behavioural features seen in the fra(X) syndrome.
|
8746743 |
1995 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Fragile X syndrome is associated with an unstable repeated CGG trinucleotide sequence in the 5' untranslated region of the FMR-1 gene.
|
7485265 |
1995 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
Evaluation of school children at high risk for fragile X syndrome utilizing buccal cell FMR-1 testing.
|
7943023 |
1994 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A 2-year-old boy with manifestations of the fragile X syndrome was found to have a cytogenetically visible deletion of Xq27-q28 including deletion of FMR-1.
|
7942990 |
1994 |
|
Fragile X Syndrome
|
0.100 |
Biomarker
|
disease |
BEFREE |
The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene.
|
7927336 |
1994 |
|
Fragile X Syndrome
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The largest of the commonly used probes for Southern blot diagnosis of fragile X mental retardation syndrome spans the CGG repeat cluster in the FMR-1 gene.
|
7969199 |
1994 |