Associated Papers
Performance of mutation pathogenicity prediction tools on missense variants associated with 46,XY differences of sex development.
Montenegro LR et al.
Clinics (sao Paulo, Brazil), 2021
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Mutant NR5A1/SF-1 in patients with disorders of sex development shows defective activation of the SOX9 TESCO enhancer.
Sreenivasan R et al.
Human Mutation, 2018
Novel NR5A1 mutations found in Chinese patients with 46, XY disorders of sex development.
Yu B et al.
Clinical Endocrinology, 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
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
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
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias.
Allali S et al.
Plos One, 2011
Epididymis cell atlas in a patient with a sex development disorder and a novel NR5A1 gene mutation.
Shi JW et al.
Asian Journal of Andrology, 0
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