Associated Papers
Genetic Etiology of 46, XY Disorders of Sex Development in Chinese Patients: Insights From Whole-Exome Sequencing.
Jing H et al.
Clinical Genetics, 2026
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
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
A novel variant of NR5A1, p.R350W implicates potential interactions with unknown co-factors or ligands.
Gau M et al.
Frontiers in Endocrinology, 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
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.
Song Y et al.
Frontiers in Pharmacology, 2018
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis.
Werner R et al.
Plos One, 2017
Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.
Hussain S et al.
Andrologia, 2016
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1.
Eggers S et al.
European Journal of Human Genetics : Ejhg, 2015
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
Steroidogenic factor-1 and human disease.
El-Khairi R et al.
Seminars in Reproductive Medicine, 2012
Isolated 'idiopathic' micropenis: hidden genetic defects?
Paris F et al.
International Journal of Andrology, 2011
Identification of novel SRY mutations and SF1 (NR5A1) changes in patients with pure gonadal dysgenesis and 46,XY karyotype.
Paliwal P et al.
Molecular Human Reproduction, 2011
Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B et al.
Molecular and Cellular Endocrinology, 2011
Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R et al.
Endocrine Development, 2011
NR5A1/SF-1 and development and function of the ovary.
Bashamboo A et al.
Annales D'endocrinologie, 2010
Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
Soardi FC et al.
Journal of Applied Genetics, 2010
[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
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