Premature Menopause
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Our sample size was sufficient to rule out a > or = 3-fold increased risk of early menopause and a > or = 9-fold increased risk of premature menopause due to an FMR1 premutation, under a model considering the risk of both sporadic and familial early menopause.
|
9399905 |
1997 |
Premature Menopause
|
0.200 |
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 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mapping of the POF1 locus and identification of putative genes for premature ovarian failure.
|
10729312 |
2000 |
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 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure and the FMR1 gene.
|
11299521 |
2000 |
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 |
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 |
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 |
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 |
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 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Women with spontaneous premature ovarian failure are at increased risk of having an FMR1 premutation and should be informed of the availability of fragile X testing.
|
16275254 |
2005 |
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 |
FMR1 premutations are known to be associated with premature ovarian failure (POF), but the underlying mechanism is unknown.
|
16251893 |
2006 |
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 |
Biomarker
|
disease |
BEFREE |
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 |
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 |
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 |
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 |
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 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Smaller (CGG)(n) repeat expansions in FMR1, premutations, are associated with premature ovarian failure and fragile X-associated tremor/ataxia syndrome.
|
18165276 |
2008 |
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 |
GeneticVariation
|
disease |
BEFREE |
To assess whether the number of triple CGG expansion of the FMR1 (fragile X) gene, known to correlate at premutation (55-200 repeats) and full mutation (>200 repeats) ranges with risk toward premature ovarian failure (POF), also correlates with milder forms of premature ovarian senescence.
|
18384775 |
2009 |
Premature Menopause
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Non-coding (CGG-repeat) expansions in the fragile X mental retardation 1 (FMR1) gene result in a spectrum of disorders involving altered neurodevelopment (fragile X syndrome), neurodegeneration (late-onset fragile X-associated tremor/ataxia syndrome), or primary ovarian insufficiency.
|
19460937 |
2009 |