Associated Papers
Molecular Diagnosis of 46,XY Disorders of Sex Development: An Efficient Initial Molecular Analysis Using a Custom-Designed Targeted Gene Panel in a Single-Center Study.
Poyrazoglu S et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2026
The clinical diversity and molecular etiology in 46, XY disorders of sex development patients without uterus.
Ding L et al.
Orphanet Journal of Rare Diseases, 2025
Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese.
Chen H et al.
Biology of Sex Differences, 2024
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study.
Cools M et al.
European Journal of Endocrinology, 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
Clinical characteristics and genetic expansion of 46,XY disorders of sex development children in a Chinese prospective study.
Tang Y et al.
Endocrine Connections, 2023
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Characteristics and possible mechanisms of 46, XY differences in sex development caused by novel compound variants in NR5A1 and MAP3K1.
Cheng Y et al.
Orphanet Journal of Rare Diseases, 2021
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Yan YL et al.
Genetics, 2021
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Kalinchenko NY et al.
Problemy Endokrinologii, 2020
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Oligogenic Origin of Differences of Sex Development in Humans.
Camats N et al.
International Journal of Molecular Sciences, 2020
Analysis of variants in GATA4 and FOG2/ZFPM2 demonstrates benign contribution to 46,XY disorders of sex development.
van den Bergen JA et al.
Molecular Genetics & Genomic Medicine, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development.
Xu Y et al.
European Journal of Endocrinology, 2019
NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.
Knarston IM et al.
Human Mutation, 2019
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
Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development.
Robevska G et al.
Human Mutation, 2018
Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort.
Eggers S et al.
Genome Biology, 2016
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
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
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
Different Clinical Manifestations Related to Subvirilization in Three XY Patients With the Same Pathogenic Variant of Steroidogenic Factor 1.
Ochoa MF et al.
Aace Clinical Case Reports, 0