Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Recent functional studies have validated genetic factors (Progesterone receptor membrane component 1 (<i>PGRMC1</i>)), Fragile X mental retardation 1 (<i>FMR1</i>, <i>GDF9</i> and <i>BMP15</i>) as being causative of primary ovarian insufficiency (POI), <i>BMP15/GDF9</i> gene variants were found to have a high incidence on the POI phenotype.
|
31607184 |
2019 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Mutations in MCM8/9 correlate principally with primary ovarian failure/insufficiency (POF/POI) and infertility indicating a meiotic defect.
|
30743181 |
2019 |
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 |
GeneticVariation
|
disease |
BEFREE |
We conducted molecular analysis of the FMR1 gene from 300 women of reproductive age and 140 women with POI using triplet primed-polymerase chain reaction.
|
29188551 |
2018 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
FMR1 premutation carriers of CGG repeats are supposed to be at increased risk for POF.
|
30030199 |
2018 |
Ovarian Failure, Premature
|
0.400 |
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 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Together with fragile X-associated tremor and ataxia (FXTAS) and fragile X-associated premature ovarian failure (POF)/primary ovarian insufficiency (POI), FXS depends on dysfunctional expression of the FMR1 gene on Xq27.3.
|
29170104 |
2018 |
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 |
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 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Fewer than 26 or more than 28 CGG repeats in FMR1 allele1 were both risk factors of POI occurrence.
|
27916452 |
2017 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Women who carry a fragile X premutation, defined as having 55-200 unmethylated CGG repeats in the 5' UTR of the X-linked FMR1 gene, have a 20-fold increased risk for primary ovarian insufficiency (FXPOI).
|
28941155 |
2017 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Women who develop primary ovarian insufficiency related to a premutation in FMR1 are at risk of having a child with fragile X syndrome, the most common cause of inherited intellectual disability.
|
27827529 |
2017 |
Ovarian Failure, Premature
|
0.400 |
Biomarker
|
disease |
BEFREE |
Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency.
|
28812997 |
2017 |
Ovarian Failure, Premature
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Premutation range CGGn repeats of the FMR1 gene denote risk toward primary ovarian insufficiency (POI), also called premature ovarian failure (POF).
|
28454580 |
2017 |
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 |
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 |
Six deleterious variants in POF genes were also detected which might explain the pathogenesis of POF with abnormalities in the sex chromosomes.
|
27989800 |
2016 |
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 |
FMR1 gene mutation screening by TP-PCR in patients with premature ovarian failure and fragile-X.
|
25366135 |
2015 |
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 |
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 |
Premutation and intermediate CGG repeat length at the fragile X mental retardation 1 (FMR1) locus have been associated with premature ovarian failure.
|
24423935 |
2014 |