|
Premature Ovarian Failure 2a
|
0.500 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterility.
|
9497258 |
1998 |
|
Premature Ovarian Failure 2a
|
0.500 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Premature Menopause
|
0.190 |
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 |
|
Premature Menopause
|
0.190 |
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
|
0.190 |
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 |
|
Premature Menopause
|
0.190 |
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 |
|
Premature Menopause
|
0.190 |
Biomarker
|
disease |
BEFREE |
Our results indicated that DIAPH2 may be a polygenic pleiotropy for POF and AMD.
|
21386871 |
2011 |
|
Premature Menopause
|
0.190 |
GeneticVariation
|
disease |
BEFREE |
We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration.
|
17549761 |
2007 |
|
Premature Menopause
|
0.190 |
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
|
0.190 |
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
|
0.190 |
Biomarker
|
disease |
BEFREE |
We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
|
9497258 |
1998 |
|
Premature Menopause
|
0.190 |
Biomarker
|
disease |
HPO |
|
|
|
|
Secondary physiologic amenorrhea
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Secondary amenorrhea
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
X-linked dominant inheritance
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Ovarian Failure, Premature
|
0.080 |
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
|
0.080 |
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
|
0.080 |
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
|
0.080 |
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
|
0.080 |
Biomarker
|
disease |
BEFREE |
Our results indicated that DIAPH2 may be a polygenic pleiotropy for POF and AMD.
|
21386871 |
2011 |
|
Ovarian Failure, Premature
|
0.080 |
GeneticVariation
|
disease |
BEFREE |
We found that a SNP (rs10521496) covered by DIAPH2, known to cause premature ovarian failure (POF) in females, is associated with age-related macular degeneration.
|
17549761 |
2007 |
|
Ovarian Failure, Premature
|
0.080 |
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
|
0.080 |
Biomarker
|
disease |
BEFREE |
We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation.
|
9497258 |
1998 |
|
Mental disorders
|
0.040 |
Biomarker
|
group |
BEFREE |
Addiction, DIA), and comorbid psychiatric disorders (Kiddie-Schedule for Affective Disorders and Schizophrenia-Present and Lifetime Version-Korean version, K-SADS-PL).
|
31261841 |
2019 |
|
Mental disorders
|
0.040 |
Biomarker
|
group |
BEFREE |
Both the short screening questionnaire and the standardized interview from the DIA-X expert system were used for diagnosing mental disorders.
|
30416461 |
2018 |