Premature Menopause
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure and the FMR1 gene.
|
11299521 |
2000 |
Premature Menopause
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
POF and FXTAS are found in individuals with an expanded repeat between 50 and 200 CGGs and are associated with increased FMR1 mRNA levels.
|
12952862 |
2003 |
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 |
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 |
FMR1 premutations are known to be associated with premature ovarian failure (POF), but the underlying mechanism is unknown.
|
16251893 |
2006 |
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
FMR1 and the continuum of primary ovarian insufficiency.
|
21969264 |
2011 |
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 |
FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
|
25366135 |
2015 |
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 |
FMR1 CGG trinucleotide repeat expansions are associated with Fragile X syndrome (full mutations) and primary ovarian insufficiency (premutation range); the effect of FMR1 on the success of fertility treatment is unclear.
|
30711457 |
2019 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Because changes in number of CGG triplets in FMR1 exon 1 (below or beyond normal values of 26-34 triplets) affect ovarian reserve and pre-mutations containing >54 CGG triplets represent a known risk factor for premature ovarian insufficiency/failure, we investigated in the human GC model (COV434) how FMR1/FMRP and mTOR/AKT are expressed and potentially interact during GC proliferation.
|
28826600 |
2017 |
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 |
Chromosomal abnormalities and FMR1 gene premutation in Chinese women with premature menopause.
|
16085940 |
2005 |
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 |
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 |
Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
|
28812997 |
2017 |
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 |
First, the couples have to be informative (the number of triplet repeats on the healthy FMR-1 allele of the mother has to be different from the number of repeats on the healthy FMR-1 allele of the father) and second, women with a premutation are at increased risk of premature ovarian failure.
|
12407031 |
2002 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Fragile X-associated primary ovarian insufficiency (FXPOI) is caused by inheritance of the FMR1 premutation allele and approximately 20% of women with the premutation allele develop ovarian dysfunction and premature ovarian insufficiency.
|
27695106 |
2016 |
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 |
In this work we describe a large Brazilian family in which a POF/premutated woman has transmitted to five out of seven daughters a FMR1 premutated allele.
|
12119565 |
2002 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency.
|
18973899 |
2009 |