Associated Papers
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
Revisiting GDF9 variants in primary ovarian insufficiency: A shift from dominant to recessive pathogenicity?
Jordan P et al.
Gene, 2024
Genetic regulation of ovulation rate and multiple births.
Montgomery GW
Reproduction, Fertility, and Development, 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
Targeted Next-Generation Sequencing Indicates a Frequent Oligogenic Involvement in Primary Ovarian Insufficiency Onset.
Rossetti R et al.
Frontiers in Endocrinology, 2021
Identification and characterization of rare toll-like receptor 3 variants in patients with autoimmune Addison's disease.
Aslaksen S et al.
Journal of Translational Autoimmunity, 2019
Morphogenetic defects underlie Superior Coloboma, a newly identified closure disorder of the dorsal eye.
Hocking JC et al.
Plos Genetics, 2018
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
Identification of Multiple Gene Mutations Accounts for a new Genetic Architecture of Primary Ovarian Insufficiency.
Bouilly J et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency.
Bouali N et al.
Clinical Genetics, 2016
Aberrant GDF9 expression and activation are associated with common human ovarian disorders.
Simpson CM et al.
The Journal of Clinical Endocrinology and Metabolism, 2014
Polymorphism identification in goat GNRH1 and GDF9 genes and their association analysis with litter size.
An XP et al.
Animal Genetics, 2013
Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.
Suo SB et al.
Journal of Proteome Research, 2013
Integral role of GDF-9 and BMP-15 in ovarian function.
Otsuka F et al.
Molecular Reproduction and Development, 2011
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
Impaired production of BMP-15 and GDF-9 mature proteins derived from proproteins WITH mutations in the proregion.
Inagaki K et al.
Molecular and Cellular Endocrinology, 2010
Identification of novel missense mutations of GDF9 in Chinese women with polycystic ovary syndrome.
Wang B et al.
Reproductive Biomedicine Online, 2010
Variation in bone morphogenetic protein 15 is not associated with spontaneous human dizygotic twinning.
Zhao ZZ et al.
Human Reproduction (oxford, England), 2008
Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes.
Simpson JL
Annals of the New York Academy of Sciences, 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