Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis of the FMR1 gene in over three generations of females revealed that six carried pre-mutated alleles (61-200), of which two were also affected by POF.
|
17428316 |
2007 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure associated with FMR1 premutation at such an early age has not been reported in the literature before.
|
19041959 |
2009 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To assess whether the number of triple CGG expansion of the FMR1 (fragile X) gene, known to correlate at premutation (55-200 repeats) and full mutation (>200 repeats) ranges with risk toward premature ovarian failure (POF), also correlates with milder forms of premature ovarian senescence.
|
18384775 |
2009 |
Premature Menopause
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
DNA and RNA samples were isolated from 74 patients with idiopathic POF to evaluate quantitatively the expression of FMR1 in leukocytes and CGG triplet number on FMR1 gene alleles. mRNA levels were normalized and compared with those of control women.
|
21335413 |
2011 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers of CGG repeats are supposed to be at increased risk for POF.
|
30030199 |
2018 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF).
|
28454580 |
2017 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Based on the current evidence, we concluded that intermediate-sized FMR1 CGG repeat alleles should not be considered as a high-risk factor for POF and DOR.
|
27876427 |
2017 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
We found no significant association between FMR1 CGG repeat premutation and POF in Indian population.
|
24452737 |
2014 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
|
28812997 |
2017 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Presently, guidelines for FMR1 genetic testing includes early menopause, congenital intellectual disability, autism spectrum disorder, tremor or ataxia, and a family history of FXTAS or fragile X syndrome.
|
21926154 |
2011 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
Analysis of the CGG expansion in the FMR1 gene may be justified in women with POF and EM until the real role of the FMR1 premutation is determined.
|
11256870 |
2001 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mapping of the POF1 locus and identification of putative genes for premature ovarian failure.
|
10729312 |
2000 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Number of CGG repeats in the FMR1 gene of Japanese patients with primary ovarian insufficiency.
|
21944929 |
2011 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
FMR1 and the continuum of primary ovarian insufficiency.
|
21969264 |
2011 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Our patient demonstrates that a distal X-breakpoint involving POF1 locus is able to cause POF without virilization during adolescence.
|
20425841 |
2010 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FMR1 gene are associated with fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency.
|
23765048 |
2013 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Participants have been investigated in cytogenetic analysis followed by FMR1 repeat size expansions and search of variants for nine premature ovarian insufficiency-associated genes.
|
31026518 |
2019 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency.
|
19460937 |
2009 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The most common single-gene cause of POF is premutation carriers for FMR1 (fragile X syndrome).
|
24782005 |
2014 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One in 3.5 women with a family history of fragile X and 1 in 10 with premature ovarian failure had a FMR1 mutation.
|
18310361 |
2008 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
These results are clinically relevant and suggest that the FMR1 gene plays a more significant role in the incidence of POF than has previously been thought.
|
16078053 |
2005 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
The FMR1 gene is involved in three different syndromes, the fragile X syndrome (FXS), premature ovarian insufficiency (POI) and the fragile X-associated tremor/ataxia syndrome (FXTAS) at older age.
|
19233246 |
2009 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
Premature ovarian failure / primary ovarian insufficiency (POF/POI) associated with the mutations of the FMR1 (Fragile-X Mental Retardation 1) gene belongs to the group of the so-called trinucleotide expansion diseases.
|
29986653 |
2018 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We explored whether AMH, as a surrogate for oocyte supply, varies by FMR1 genotype in women diagnosed with diminished ovarian reserve (DOR), a subset of the Primary Ovarian Insufficiency phenotype.
|
24938362 |
2014 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
FMR1 low sub-genotype does not rescue BRCA1/2-mutated human embryos and does not explain primary ovarian insufficiency among BRCA1/2-carriers.
|
23760159 |
2013 |