Associated Papers
Advances in monogenic female infertility.
Gu H et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2025
From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.
Hervé B et al.
Reproductive Sciences (thousand Oaks, Calif.), 2025
Identification of novel variants underlying non-syndromic primary ovarian insufficiency using a targeted NGS gene panel.
Veneziano C et al.
Frontiers in Endocrinology, 2025
Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.
Afkhami F et al.
Reproductive Biology and Endocrinology : Rb&e, 2022
Meiotic Cohesin and Variants Associated With Human Reproductive Aging and Disease.
Beverley R et al.
Frontiers in Cell and Developmental Biology, 2021
Screening of targeted panel genes in Brazilian patients with primary ovarian insufficiency.
França MM et al.
Plos One, 2020
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
A novel homozygous mutation of bone morphogenetic protein 15 identified in a consanguineous marriage family with primary ovarian insufficiency.
Zhang W et al.
Reproductive Biomedicine Online, 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
Genes involved in human premature ovarian failure.
Persani L et al.
Journal of Molecular Endocrinology, 2010
BMP15 and premature ovarian failure: causal mutations, variants, polymorphisms?
Lakhal B et al.
Clinical Endocrinology, 2010
A novel BMP15 variant, potentially affecting the signal peptide, in a familial case of premature ovarian failure.
Lakhal B et al.
Clinical Endocrinology, 2009
BMP15 mutations associated with primary ovarian insufficiency cause a defective production of bioactive protein.
Rossetti R et al.
Human Mutation, 2009
Identification of new variants of human BMP15 gene in a large cohort of women with premature ovarian failure.
Di Pasquale E et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Genetics of primary ovarian insufficiency: new developments and opportunities.
Qin Y et al.
Human Reproduction Update, 0