|
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 |
The results of this study indicate that FMR1 premutations are rare in sporadic cases of POF with no family history of fragile X syndrome.
|
19712568 |
2009 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
The results failed to show a direct effect of X-inactivation in the manifestation of premature ovarian failure among FMR1 premutation carriers.
|
19373114 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To increase awareness of the unique clinical and ethical considerations invoked by the request of a patient with premature ovarian failure (POF) and her nulliparous sister, both with intermediate-size mutations in fragile X mental retardation 1 (FMR1), to pursue sibling ovum donation.
|
19410248 |
2009 |
|
Premature Menopause
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
To study three molecular parameters (number of CGG repeats, X-inactivation ratio, and expression of FMR1 mRNA) in premutation carriers of fragile X syndrome with and without premature ovarian failure (POF) to find differences between these two groups that could be useful in reproductive counseling.
|
18427356 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The FMR1 mutations can cause a variety of disabilities, including cognitive deficits, attention-deficit/hyperactivity disorder, autism, and other socioemotional problems, in individuals with the full mutation form (fragile X syndrome) and distinct difficulties, including primary ovarian insufficiency, neuropathy and the fragile X-associated tremor/ataxia syndrome, in some older premutation carriers.
|
19117905 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The risk for premature ovarian failure increases in association with two principal known etiologies: in the presence of excessive triple CGG expansions on the FMR1 (fragile X) gene (genetic etiology) and in association with a variety of autoimmune conditions (autoimmune etiology).
|
19197218 |
2009 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.
|
18973899 |
2009 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
We found no significant association between FMR1 CGG repeat premutation and POF in Indian population.
|
24452737 |
2014 |