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
Gonadal Genetics and Germ Cell Tumor Risk in SRY-Negative 46,XX Testicular/Ovotesticular Disorders of Sex Development.
Yang H et al.
Hormone Research in Paediatrics, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.
Yoon H et al.
Annals of Pediatric Endocrinology & Metabolism, 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
Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.
Yavas Abalı Z et al.
Frontiers in Endocrinology, 2024
46,XX Differences of Sex Development outside congenital adrenal hyperplasia: pathogenesis, clinical aspects, puberty, sex hormone replacement therapy and fertility outcomes.
Stancampiano MR et al.
Frontiers in Endocrinology, 2024
Nuclear Receptor Gene Variants Underlying Disorders/Differences of Sex Development through Abnormal Testicular Development.
Hattori A et al.
Biomolecules, 2023
Pubertal development in 46,XY patients with NR5A1 mutations.
Mönig I et al.
Endocrine, 2022
Can Non-Coding NR5A1 Gene Variants Explain Phenotypes of Disorders of Sex Development?
Fabbri-Scallet H et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 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
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): I) Physiology, classification, approach, and methodologyII) Biochemical and genetic markers in 46,XX DSD.
Granada ML et al.
Advances in Laboratory Medicine, 2021
Towards improved genetic diagnosis of human differences of sex development.
Délot EC et al.
Nature Reviews. Genetics, 2021
SRY and NR5A1 gene mutation in Algerian children and adolescents with DSD and testicular dysgenesis.
Kherouatou-Chaoui N et al.
African Health Sciences, 2021
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
Approach to the Virilizing Girl at Puberty.
Santi M et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
SRY-negative 46,XX testicular/ovotesticular DSD: Long-term outcomes and early blockade of gonadotropic axis.
Lambert S et al.
Clinical Endocrinology, 2021
A fish with no sex: gonadal and adrenal functions partition between zebrafish NR5A1 co-orthologs.
Yan YL et al.
Genetics, 2021
Under-reported aspects of diagnosis and treatment addressed in the Dutch-Flemish guideline for comprehensive diagnostics in disorders/differences of sex development.
Bever YV et al.
Journal of Medical Genetics, 2020
A missense mutation in NR5A1 causing female to male sex reversal: A case report.
Askari M et al.
Andrologia, 2020
Functional study of a novel c.630delG (p.Y211Tfs*85) mutation in NR5A1 gene in a Chinese boy with 46,XY disorders of sex development.
Pan S et al.
Journal of Assisted Reproduction and Genetics, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
A mutation inactivating the distal SF1 binding site on the human anti-Müllerian hormone promoter causes persistent Müllerian duct syndrome.
Schteingart HF et al.
Human Molecular Genetics, 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
A 46,XX testicular disorder of sex development caused by a Wilms' tumour Factor-1 (WT1) pathogenic variant.
Gomes NL et al.
Clinical Genetics, 2019
A Follow-Up from Infancy to Puberty in a Japanese Male with SRY-Negative 46,XX Testicular Disorder of Sex Development Carrying a p.Arg92Trp Mutation in NR5A1.
Saito-Hakoda A et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Translating genomics to the clinical diagnosis of disorders/differences of sex development.
Parivesh A et al.
Current Topics in Developmental Biology, 2019
Cytogenetic Spectrum of Ovotesticular Difference of Sex Development (OT DSD) among a Large Cohort of DSD Patients and Literature Review.
Mekkawy MK et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2019
Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M et al.
Endocrine Journal, 2018
Integrating clinical and genetic approaches in the diagnosis of 46,XY disorders of sex development.
Kolesinska Z et al.
Endocrine Connections, 2018
Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.
Splinter K et al.
The New England Journal of Medicine, 2018
GENETICS IN ENDOCRINOLOGY: Approaches to molecular genetic diagnosis in the management of differences/disorders of sex development (DSD): position paper of EU COST Action BM 1303 ‘DSDnet’
Audi L et al.
European Journal of Endocrinology, 2018
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats N et al.
European Journal of Human Genetics : Ejhg, 2018
New technologies to uncover the molecular basis of disorders of sex development.
Barseghyan H et al.
Molecular and Cellular Endocrinology, 2018
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations.
Rocca MS et al.
Fertility and Sterility, 2018
Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model.
Barseghyan H et al.
Biology of Sex Differences, 2018
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.
Song Y et al.
Frontiers in Pharmacology, 2018
Next generation sequencing and array-based comparative genomic hybridization for molecular diagnosis of pediatric endocrine disorders.
Fukami M et al.
Annals of Pediatric Endocrinology & Metabolism, 2017
Genetic disorders of nuclear receptors.
Achermann JC et al.
The Journal of Clinical Investigation, 2017
NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.
Baetens D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
Bashamboo A et al.
Clinical Genetics, 2017
Identical NR5A1 Missense Mutations in Two Unrelated 46,XX Individuals with Testicular Tissues.
Igarashi M et al.
Human Mutation, 2017
Recent findings on the genetics of disorders of sex development.
Kremen J et al.
Current Opinion in Urology, 2017
A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant.
Swartz JM et al.
Hormone Research in Paediatrics, 2017