Associated Papers
Novel NR5A1 variants associated with hypospadias and disorders of sex development: A series case report of 4 patients.
Peng X et al.
Medicine, 2025
Role of NR5A1 Gene Mutations in Disorders of Sex Development: Molecular and Clinical Features.
Luppino G et al.
Current Issues in Molecular Biology, 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
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
SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
Colson C et al.
Clinical Genetics, 2017
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
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.
Bashamboo A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2016
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A et al.
Seminars in Cell & Developmental Biology, 2015
The molecular-genetic basis of functional hyperandrogenism and the polycystic ovary syndrome.
Escobar-Morreale HF et al.
Endocrine Reviews, 2005
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