Associated Papers
Genetic Testing for Monogenic Forms of Male Infertility Contributes to the Clinical Diagnosis of Men with Severe Idiopathic Male Infertility.
Podgrajsek R et al.
The World Journal of Men's Health, 2025
39843174 (PubMed )
Supplement: wjmh-43-908-s001.pdf
Broader impact and outcome of human NR5A1/SF1 variants.
Kouri C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2025
A systematic review and evidence assessment of monogenic gene-disease relationships in human male infertility.
Zhao Q et al.
Frontiers in Endocrinology, 2025
40951413 (PubMed )
Supplement: Table2.xlsx › All_articles_and_genes
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
39337600 (PubMed )
Supplement: ijms-25-10109-s001.zip › ijms-3175587-supplementary.pdf
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
38168586 (PubMed )
Supplement: mmc1.pdf
Undiagnosed RASopathies in infertile men.
Juchnewitsch AG et al.
Frontiers in Endocrinology, 2024
38654924 (PubMed )
Supplement: DataSheet_1.pdf
NR5A1 c.991-1G > C splice-site variant causes familial 46,XY partial gonadal dysgenesis with incomplete penetrance.
Laan M et al.
Clinical Endocrinology, 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
Select a paper to view details