Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.S186Y
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GDF9

NM_005260.7:p.S186Y

Associated Papers

Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?

Jordan P et al.

Gene, 2024

Ovarian insufficiency and secondary amenorrhea in a patient with a novel variant within GDF9 gene.

Marinakis NM et al.

Menopause (new York, N.y.), 2022

Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.

França MM et al.

Clinical Genetics, 2018

Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms.

De Conto E et al.

Journal of Assisted Reproduction and Genetics, 2017

Single nucleotide polymorphisms in premature ovarian failure-associated genes in a Chinese Hui population.

Ma L et al.

Molecular Medicine Reports, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Aberrant GDF9 expression and activation are associated with common human ovarian disorders.

Simpson CM et al.

The Journal of Clinical Endocrinology and Metabolism, 2014

G546A polymorphism of growth differentiation factor-9 contributes to the poor outcome of ovarian stimulation in women with diminished ovarian reserve.

Wang TT et al.

Fertility and Sterility, 2010

Genes involved in human premature ovarian failure.

Persani L et al.

Journal of Molecular Endocrinology, 2010

Chromosomal abnormalities in women with premature ovarian failure.

Artini PG et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2010

Recent advances in the study of genes involved in non-syndromic premature ovarian failure.

Laissue P et al.

Molecular and Cellular Endocrinology, 2008

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure.

Zhao H et al.

Fertility and Sterility, 2007

Growth differentiating factor-9 mutations may be associated with premature ovarian failure.

Kovanci E et al.

Fertility and Sterility, 2007

Mutations and sequence variants in GDF9 and BMP15 in patients with premature ovarian failure.

Laissue P et al.

European Journal of Endocrinology, 2006

Inhibin and premature ovarian failure.

Chand AL et al.

Human Reproduction Update, 0

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