Associated Papers
A homozygous TRIP13 pathogenic variant associated with familiar oocyte arrest and prematurely condensed sperm chromosomes.
Schweiger M et al.
Molecular Cytogenetics, 2025
46, XY under-virilization and NR5A1 variants: Monocentric Indian experience and systematic review.
Kumar S et al.
Annales D'endocrinologie, 2025
Correlation between LHCGR and NR5A1 genes polymorphism and male infertility risk.
Behvarz M et al.
Actas Urologicas Espanolas, 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
Next-generation sequencing of 500 POI patients identified novel responsible monogenic and oligogenic variants.
Luo W et al.
Journal of Ovarian Research, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].
Kalinchenko NY et al.
Problemy Endokrinologii, 2020
Mutation update for the NR5A1 gene involved in DSD and infertility.
Fabbri-Scallet H et al.
Human Mutation, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
Phenotype and Molecular Characterizations of 30 Children From China With NR5A1 Mutations.
Song Y et al.
Frontiers in Pharmacology, 2018
Fertility preservation in a family with a novel NR5A1 mutation.
Yagi H et al.
Endocrine Journal, 2015
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
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
Malikova J et al.
Plos One, 2014
Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients.
Nishina-Uchida N et al.
Hormone Research in Paediatrics, 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
Limited contribution of NR5A1 (SF-1) mutations in women with primary ovarian insufficiency (POI).
Janse F et al.
Fertility and Sterility, 2012
Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred.
Ciaccio M et al.
Hormone Research in Paediatrics, 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