|
Ovarian Failure, Premature
|
0.400 |
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 |
|
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 |
Mapping of the POF1 locus and identification of putative genes for premature ovarian failure.
|
10729312 |
2000 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Premature ovarian failure and the FMR1 gene.
|
11299521 |
2000 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
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 |
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 |
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 |
|
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutations are known to be associated with premature ovarian failure (POF), but the underlying mechanism is unknown.
|
16251893 |
2006 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
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 |
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 |
|
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 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
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 |
|
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 |
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 |
|
Ovarian Failure, Premature
|
0.400 |
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 |