Varaico: Literature-Extracted Genetic Variants

Gene:GDF9
Variant:p.V216M
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GDF9

NM_005260.7:p.V216M

Associated Papers

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

Association of FSHR, LH, LHR, BMP15, GDF9, AMH, and AMHR polymorphisms with poor ovarian response in patients undergoing in vitro fertilization.

Meireles AJC et al.

Jbra Assisted Reproduction, 2021

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Shen J et al.

Journal of Assisted Reproduction and Genetics, 2021

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

GDF9 polymorphisms: influence on ovarian response in women undergoing controlled ovarian hyperstimulation.

Bilibio JP et al.

Jbra Assisted Reproduction, 2020

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

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

Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome.

Wang B et al.

Reproductive Biomedicine Online, 2010

Two distinct regions of latency-associated peptide coordinate stability of the latent transforming growth factor-beta1 complex.

Walton KL et al.

The Journal of Biological Chemistry, 2010

Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.

Zhao ZZ et al.

Human Reproduction (oxford, England), 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

Novel variants in growth differentiation factor 9 in mothers of dizygotic twins.

Palmer JS et al.

The Journal of Clinical Endocrinology and Metabolism, 2006

Missense mutations in the BMP15 gene are associated with ovarian failure.

Dixit H et al.

Human Genetics, 2006

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

Laissue P et al.

European Journal of Endocrinology, 2006

Mutational screening of the coding region of growth differentiation factor 9 gene in Indian women with ovarian failure.

Dixit H et al.

Menopause (new York, N.y.), 0

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