Associated Papers
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study.
Kouri C et al.
Ebiomedicine, 2025
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M et al.
European Journal of Endocrinology, 2024
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
Disorders of Sex Development: Classification, Review, and Impact on Fertility.
Acién P et al.
Journal of Clinical Medicine, 2020
Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.
Pan S et al.
Journal of Assisted Reproduction and Genetics, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development.
Baetens D et al.
Orphanet Journal of Rare Diseases, 2014
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