|
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 |
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 |
Premutation alleles (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene are associated with autism spectrum disorder in childhood, premature ovarian failure, and the neurodegenerative disorder, fragile X-associated tremor/ataxia syndrome (FXTAS).
|
17166860 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
While translocations in the region may lead to ovarian dysfunction by disrupting normal meiosis or by a position effect, two recent reports of patients with premature ovarian failure and Xq deletions suggest that there is a gene (POF1) localized to Xq21.3-q27 [Krauss et al., N Engl J Med 317:125-131, 1987; Davies et al., Cytogenet Cell Genet 58:853-966, 1991] or within Xq26.1-q27 [Tharapel et al., Am J Hum Genet 52:463-471, 1993] responsible for POF.(ABSTRACT TRUNCATED AT 250 WORDS)
|
7977456 |
1994 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Women with premature ovarian failure are at increased risk of having an FMR1 premutation and should be informed of the availability of fragile X testing.
|
17074338 |
2007 |
|
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 |
Biomarker
|
disease |
BEFREE |
This comprehensive review first examines where and how the dogma of a finite pool was established, how this has been challenged over the years and addresses the most pertinent questions as to the current status of their existence, their role in female fertility, and perhaps most importantly, if they do exist, how can we harness these cells to improve a woman's oocyte reserve and treat conditions such as premature ovarian insufficiency (POI: also known as premature ovarian failure, POF).
|
28389520 |
2017 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
There was no association of the shorter or longer FMR1 allele or their combined genotype with the clinically relevant end point of early menopause in our main analysis.
|
27614355 |
2016 |
|
Premature Menopause
|
0.200 |
Biomarker
|
disease |
BEFREE |
The association between the FMR1 premutation (50-200 CGG repeats) and the premature ovarian failure (POF) suggests that epigenetic disorders of FMR1 can act as a risk factor for the DOR as well.
|
29308622 |
2018 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
This was a cross-sectional survey of women with elevated follicle stimulating hormone levels with (premature ovarian failure or early menopause [POF/EM], n = 20) or without (diminished ovarian reserve [DOR], n = 20) amenorrhea.Seventy-five percent participated.
|
16522406 |
2006 |
|
Premature Menopause
|
0.200 |
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 |
|
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The FMR1 premutation (55-200 repeats) is a known cause of primary ovarian insufficiency.
|
26345686 |
2015 |
|
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 |
Our breakpoint mapping data will help to identify additional candidate POF genes and to delineate the Xq POF critical region(s).
|
10894934 |
2000 |