|
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 |
Diminished ovarian reserve (DOR) and premature ovarian failure are associated with elevated FMR1 CGG repeat alleles.
|
24788194 |
2014 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
This small case-control study failed to find associations between CGG repeat sizes or AGG interruptions in FMR1 and premature ovarian failure in Chinese women.
|
24912415 |
2014 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
The prevalence of intermediate FMR1 (41-54) was not increased significantly in sporadic POF than that in controls (2.9% vs. 1.7%, P = 0.343).
|
25050920 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure.
|
24423935 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Male premutation carriers presenting between 55 and 200 CGG repeats in the Fragile-X-associated (FMR1) gene are at risk of developing Fragile X Tremor/Ataxia Syndrome (FXTAS), and females undergo Premature Ovarian Failure (POF1).
|
24418349 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis was made subsequently to the evaluation of a FMR1 premutation as the cause for maternal premature ovarian failure.
|
25027833 |
2014 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The prevalence of FMR1 expansion mutations in early menopause (between the ages of 40 and 45 years) has not been published.
|
23703681 |
2014 |
|
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 |
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 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These data add to the growing evidence base that women with the FMR1 premutation have an increased risk of psychiatric illness and risk for early menopause.
|
24003006 |
2013 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
To identify the role of both genetic (number of CGG repeats in the FMR1 gene) and autoimmune factors (anti-ovarian antibodies) in premature ovarian failure (POF).
|
23504400 |
2013 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results suggest that in the analysed Basque sample the FMR1 gene has a role in the aetiology of POF.
|
23537988 |
2013 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Intermediate repeat expansions in the fragile X mental retardation 1 (FMR1) gene (55-200 repeats) are known to cause fragile X-associated premature ovarian insufficiency [(FX)POI; female carriers] or fragile X-associated tremor/ataxia syndrome (FXTAS; male carriers) by CGG-mediated RNA toxicity.
|
22507827 |
2012 |
|
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 |
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 |
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 |
The frequency of X-chromosome mosaicism in women with sporadic POF has been found to range between 3 and 10%, whereas the prevalence of POF in carriers of the FMR1 premutation is estimated to range between 13 and 25%.
|
20575655 |
2011 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Carriers of a premutation (CGG repeat length 55-200) in the fragile X mental retardation (FMR1) gene are at risk for primary ovarian insufficiency (FXPOI).
|
21576079 |
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 |
We therefore conclude that intermediate sized FMR1 CGG repeat alleles should not be considered a high-risk factor for POF based on current evidence.
|
20228389 |
2010 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The NXF5 gene is an appealing candidate for POF because it shows functional homology with the FMR1 (fragile X mental retardation 1) gene.
|
20338563 |
2010 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The occurrence of late-onset tremor and premature ovarian failure in the maternal branch of the family pointed to a possible defect in the FMR1 gene.
|
20425835 |
2010 |
|
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 |