Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
LHGDN |
Microarray detection of a de novo der(X)t(X;11)(q28;p13) in a girl with premature ovarian failure and features of Beckwith-Wiedemann syndrome.
|
16708166 |
2006 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
LHGDN |
Premature ovarian failure and fragile X premutation: a study on 45 women.
|
14746957 |
2004 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
LHGDN |
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 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
LHGDN |
The results obtained strengthen the correlation between FMR1 expansion and POF and suggest that the manifestation of the ovarian dysfunction could be influenced both by the pattern of interruption of the CGG repeat and by X-inactivation.
|
16361284 |
2006 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
CTD_human |
Female carriers of fragile X premutations have no increased risk for additional diseases other than premature ovarian failure.
|
12548733 |
2003 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure and the FMR1 gene.
|
11299521 |
2000 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
The FMR1 CGG repeat number was determined by PCR amplification in women diagnosed with POI and women with a known age at natural menopause ≥40 years.
|
24812319 |
2014 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We studied five groups of women with ovarian dysfunction for the CGG expansion in FMR1 and a (TA)n polymorphism in the estrogen receptor gene: a) poor responders to ovarian stimulation as part of in vitro fertilization (n = 13); b) women with familial premature ovarian failure (POF) (n = 7); c) sporadic cases with POF (n = 16); d) FRAXA premutation carriers with POF (n = 7); and e) FRAXA premutation carriers without POF (n = 9).
|
10331614 |
1999 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Molecular screening of intellectually disabled patients and those with premature ovarian failure for CGG repeat expansion at FMR1 locus: Implication of combined triplet repeat primed polymerase chain reaction and methylation-specific polymerase chain reaction analysis.
|
27841182 |
2018 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI).
|
29179771 |
2017 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The FMR1 premutation (55-200 repeats) is a known cause of primary ovarian insufficiency.
|
26345686 |
2015 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Diagnosis was made subsequently to the evaluation of a FMR1 premutation as the cause for maternal premature ovarian failure.
|
25027833 |
2014 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Premutations in the fragile X mental retardation 1 (FMR1) gene cause fragile X-associated tremor/ataxia syndrome (FXTAS) and FMR1-related primary ovarian insufficiency (POI).
|
27230899 |
2016 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
The FMR1 gene is involved in three different syndromes: fragile X syndrome (FXS), primary ovarian insufficiency (POI), and fragile X-associated tremor/ataxia syndrome (FXTAS) in older patients.
|
19631721 |
2009 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Women who carry the FMR1 PM are at 20-fold increased risk to develop primary ovarian insufficiency (FXPOI).
|
26537920 |
2016 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Approximately 20% of women with a premutation in the FMR1 gene experience primary ovarian insufficiency (POI).
|
27552334 |
2016 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Population-based estimates of the prevalence of FMR1 expansion mutations in women with early menopause and primary ovarian insufficiency.
|
23703681 |
2014 |