Varaico: Literature-Extracted Genetic Variants

Gene:BMP15
Variant:p.L148P
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BMP15

NM_005448.2:p.L148P

Associated Papers

A Tiered Approach to Exome Sequencing Analysis in Early-Onset Primary Ovarian Insufficiency.

McGlacken-Byrne SM et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

Reclassifying NOBOX variants in primary ovarian insufficiency cases with a corrected gene model and a novel quantitative framework.

Veitia RA et al.

Human Reproduction (oxford, England), 2025

40246288 (PubMed )
Supplement: deaf058_supplementary_table_s2.docx

From Dominant Assumptions to Recessive Trait: Rethinking BMP15 in Ovarian Dysfunction.

Hervé B et al.

Reproductive Sciences (thousand Oaks, Calif.), 2025

A Novel Homozygous BMP15 Mutation Causes Ovarian Dysgenesis and Primary Amenorrhea.

Cohen A et al.

Journal of the Endocrine Society, 2025

Screening for causative mutations in ovine BMPR1B and BMP15 genes and their homologous fragments in human.

Zamani P et al.

Journal of Assisted Reproduction and Genetics, 2023

Novel bone morphogenetic protein 15 (BMP15) gene variants implicated in premature ovarian insufficiency.

Afkhami F et al.

Reproductive Biology and Endocrinology : Rb&e, 2022

Two novel mutations in exon 2 of bone morphogenetic protein (BMP) 15 gene in Pakistani infertile females.

Faiza H et al.

Saudi Journal of Biological Sciences, 2021

Next Generation Sequencing Should Be Proposed to Every Woman With "Idiopathic" Primary Ovarian Insufficiency.

Eskenazi S et al.

Journal of the Endocrine Society, 2021

BMP15 Mutations Associated With Primary Ovarian Insufficiency Reduce Expression, Activity, or Synergy With GDF9.

Patiño LC et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

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

Deletion of CPEB1 Gene: A Rare but Recurrent Cause of Premature Ovarian Insufficiency.

Hyon C et al.

The Journal of Clinical Endocrinology and Metabolism, 2016

BMP15 c.-9C>G promoter sequence variant may contribute to the cause of non-syndromic premature ovarian failure.

Fonseca DJ et al.

Reproductive Biomedicine Online, 2014

Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: no association with premature ovarian failure (POF) in Serbian women.

Qin Y et al.

Maturitas, 2014

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

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

Variants of the BMP15 gene in a cohort of patients with premature ovarian failure.

Tiotiu D et al.

Human Reproduction (oxford, England), 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

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

Laissue P et al.

Molecular and Cellular Endocrinology, 2008

Sequence variants in exons of the BMP-15 gene in Chinese patients with premature ovarian failure.

Zhang P et al.

Acta Obstetricia Et Gynecologica Scandinavica, 2007

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

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

Laissue P et al.

European Journal of Endocrinology, 2006

Genetics of primary ovarian insufficiency: new developments and opportunities.

Qin Y et al.

Human Reproduction Update, 0

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