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
40037090 (PubMed )
Supplement: mmc2.pdf
In Silico Analysis of Functional SNPs in Genes of Complete Androgen Insensitivity Syndrome (CAIS): A Retrospective, Case-Control Study.
Ramgir SS et al.
Journal of Obstetrics and Gynaecology of India, 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
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I et al.
Endocrine, 2022
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Autosomal single-gene disorders involved in human infertility.
Jedidi I et al.
Saudi Journal of Biological Sciences, 2018
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development.
Fabbri-Scallet H et al.
Human Mutation, 2018
Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation.
Pedace L et al.
American Journal of Medical Genetics. Part A, 2014
The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency.
Fabbri HC et al.
Bmc Medical Genetics, 2014
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