Associated Papers
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
A novel c.64G > T (p.G22C) NR5A1 variant in a Chinese adolescent with 46,XY disorders of sex development: a case report.
Zhang D et al.
Bmc Pediatrics, 2023
The landscape of genetic variations in non-syndromic primary ovarian insufficiency in the MENA region: a systematic review.
Allouch A et al.
Frontiers in Endocrinology, 2023
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Yan YL et al.
Genetics, 2021
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
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
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
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
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina-Uchida N et al.
Hormone Research in Paediatrics, 2013
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
[SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
Martinerie L et al.
Annales D'endocrinologie, 2009
Mutations in NR5A1 associated with ovarian insufficiency.
Lourenço D et al.
The New England Journal of Medicine, 2009
Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency.
Köhler B et al.
Human Mutation, 2008
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development.
Lin L et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2008
A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.
Reuter AL et al.
European Journal of Endocrinology, 2007
Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.
Lin L et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
A Rare Differences of Sex Development: Male Sex Reversal Syndrome (NonSyndromic 46, XX with Negative Sex-Determining Region of Y Chromosome Gene).
Singhania P et al.
Journal of Indian Association of Pediatric Surgeons, 0