Associated Papers
Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.
Abseyi SN et al.
Journal of Endocrinological Investigation, 2025
A Novel Variant in NR5A1 Resulting in Normosmic Hypogonadotropic Hypogonadism With Short Stature.
Shah S et al.
Jcem Case Reports, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Broader impact and outcome of human NR5A1/SF1 variants.
Kouri C et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 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
Population-Based Study of Rare Coding Variants in NR5A1/SF-1.
Kouri C et al.
Journal of the Endocrine Society, 2024
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 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
Case Report: Longitudinal follow-up and testicular sperm extraction in a patient with a pathogenic NR5A1 (SF-1) frameshift variant: p.(Phe70Serfs*5).
Teoli J et al.
Frontiers in Endocrinology, 2023
Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations.
Martinez de Lapiscina I et al.
Plos One, 2023
WT1, NR0B1, NR5A1, LHX9, ZFP92, ZNF275, INSL3, and NRIP1 Genetic Variants in Patients with Premature Ovarian Insufficiency in a Mexican Cohort.
Ramos L
Genes, 2022
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I et al.
Endocrine, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Are NR5A1 Variations a Frequent Cause of 46,XX Ovotesticular Disorders of Sex Development? Analysis from a Single Center and Systematic Review.
Barros BA et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
Kherouatou-Chaoui N et al.
African Health Sciences, 2021
Genetics of Azoospermia.
Cioppi F et al.
International Journal of Molecular Sciences, 2021
Deleterious variants in genes regulating mammalian reproduction in Neanderthals, Denisovans and extant humans.
Greer C et al.
Human Reproduction (oxford, England), 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
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
Mkaouar R et al.
Frontiers in Genetics, 2021
New frontiers on the molecular underpinnings of hypospadias according to severity.
Piñeyro-Ruiz C et al.
Arab Journal of Urology, 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
Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development.
Sproll P et al.
Molecular Genetics & Genomic Medicine, 2018
NR5A1 mutations are not associated with male infertility in Indian men.
Sudhakar DVS et al.
Andrologia, 2018
Whole exome sequencing in Finnish families identifies new candidate genes for osteoarthritis.
Skarp S et al.
Plos One, 2018
Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Rehkämper J et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2017
Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals.
Domenice S et al.
Birth Defects Research. Part C, Embryo Today : Reviews, 2016
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.
Fabbri HC et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease.
Suntharalingham JP et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2015
Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations.
Ferlin A et al.
Fertility and Sterility, 2015
Mutational screening of the NR5A1 in azoospermia.
Zare-Abdollahi D et al.
Andrologia, 2015
Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.
Woo KH et al.
Hormone Research in Paediatrics, 2015
Novel Insights into 46,XY Disorders of Sex Development due to NR5A1 Gene Mutation.
Werner R et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2015
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
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
Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.
Tantawy S et al.
European Journal of Endocrinology, 2014
NR5A1 gene mutations: clinical, endocrine and genetic features in two girls with 46,XY disorder of sex development.
Bertelloni S et al.
Hormone Research in Paediatrics, 2014
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males.
Röpke A et al.
European Journal of Human Genetics : Ejhg, 2013
NR5A1 (SF-1) mutations are not a major cause of primary ovarian insufficiency.
Voican A et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development.
Wu JY et al.
Clinical Endocrinology, 2013
NR5A1 (SF-1) gene variants in a group of 26 young women with XX primary ovarian insufficiency.
Philibert P et al.
Fertility and Sterility, 2013
Gene mutations associated with anomalies of human gonad formation.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2013
Novel NR5A1 missense mutation in premature ovarian failure: detection in han chinese indicates causation in different ethnic groups.
Jiao X et al.
Plos One, 2013
Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism.
Hu SC et al.
Genetics and Molecular Research : Gmr, 2012
Mutational screening of SF1 and WNT4 in Tunisian women with premature ovarian failure.
Lakhal B et al.
Gene, 2012
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
The analysis of clinical manifestations and genetic mutations in Chinese boys with primary adrenal insufficiency.
Guoying C et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2012
The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians.
Adamovic T et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2012