Research graph
References from Father and son with a pathogenic variant c.614dup p.(Gln206Thrfs*20) in the NR5A1 gene: a case report. Local targets link to admitted publications; unresolved targets remain external evidence.
Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents
10.1007/s00431-009-1086-x · 2010 · External reference
Consensus statement on management of intersex disorders. International consensus conference on intersex
10.1542/peds.2006-0738 · 2006 · External reference
Consensus statement on management of intersex disorders
10.1136/adc.2006.098319 · 2006 · External reference
Male pseudohermaphroditism: a hitherto undescribed form
10.1136/bmj.2.4941.709 · 1955 · External reference
Swyer syndrome: presentation and outcomes
10.1111/j.1471-0528.2008.01703.x · 2008 · External reference
case report: severe gonadal dysgenesis causing 46,XY disorder of sex development due to a novel NR5A1 variant
10.3389/fgene.2022.885589 · 2022 · External reference
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
10.1016/j.beem.2015.07.004 · 2015 · External reference
Genetics of 46,XY gonadal dysgenesis
10.1016/j.beem.2022.101633 · 2022 · External reference
Gene mutations associated with anomalies of human gonad formation
10.1159/000342188 · 2012 · External reference
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
10.1038/s41431-018-0202-7 · 2018 · External reference
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
10.1016/j.fertnstert.2018.02.123 · 2018 · External reference
Mutations in NR5A1 associated with ovarian insufficiency
10.1056/nejmoa0806228 · 2009 · External reference
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
10.1210/jc.2011-3169 · 2012 · External reference
Multifunctional role of steroidogenic factor 1 and disorders of sex development
10.1590/s0004-27302011000800015 · 2011 · External reference
Structural characterization of human Ad4 bp (SF-1) gene
10.1006/bbrc.1996.1343 · 1996 · External reference
Mutation update for the NR5A1 gene involved in DSD and infertility
10.1002/humu.23916 · 2020 · External reference
Steroidogenic factor 1: a key determinant of endocrine development and function
10.1210/edrv.18.3.0301 · 1997 · External reference
Molecular aspects of steroidogenic factor 1 (SF-1)
10.1016/j.mce.2009.07.003 · 2010 · External reference
Steroidogenic factor 1 (NR5A1) resides in centrosomes and maintains genomic stability by controlling centrosome homeostasis
10.1038/cdd.2011.54 · 2011 · External reference
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
10.1016/0092-8674(94)90211-9 · 1994 · External reference
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development
10.1159/000152036 · 2008 · External reference
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
10.1038/nature06944 · 2008 · External reference
Phenotype and molecular characterizations of 30 children from China with NR5A1 mutations
10.3389/fphar.2018.01224 · 2018 · External reference
Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease
10.1210/me.2009-0519 · 2010 · External reference
Steroidogenic factor 1 (SF-1; NR5A1) regulates the formation of the ovarian reserve
10.1073/pnas.2220849120 · 2023 · External reference
WNT4/beta-catenin Pathway maintains female germ cell survival by inhibiting activin betaB in the mouse fetal ovary
10.1371/journal.pone.0010382 · 2010 · External reference
A versatile two-stage hypospadias repair
10.1016/s0007-1226(95)90023-3 · 1995 · External reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
10.1038/gim.2015.30 · 2015 · External reference
Identification of NR5A1 mutations and possible digenic inheritance in 46,XY gonadal dysgenesis
10.1159/000445983 · 2016 · External reference
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
10.1016/j.ebiom.2025.105624 · 2025 · External reference
Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1
10.3390/ijms21228554 · 2020 · External reference
Fertility preservation in a family with a novel NR5A1 mutation
10.1507/endocrj.ej14-0340 · 2015 · External reference
Predominant sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father
10.1016/j.fertnstert.2010.11.035 · 2011 · External reference
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
10.1159/000338346 · 2012 · External reference
Disorders of sex development in a large Ukrainian cohort: clinical diversity and genetic findings
10.3389/fendo.2022.810782 · 2022 · External reference
Consensus guide on prophylactic gonadectomy in different sex development
10.1016/j.endien.2022.10.002 · 2022 · External reference
Gonadectomy in individuals with a difference of sex development—for whom, when, why, and why not?
10.1016/j.beem.2025.102019 · 2025 · External reference
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
10.1515/jpem-2014-0522 · 2015 · External reference
Role of NR5A1 gene mutations in disorders of sex development: molecular and clinical features
10.3390/cimb46050274 · 2024 · External reference
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study
10.1093/ejendo/lvad174 · 2024 · External reference
Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how?
10.1016/j.jpurol.2016.04.001 · 2016 · External reference
46, XY under-virilization and NR5A1 variants: monocentric Indian experience and systematic review
10.1016/j.ando.2025.101731 · 2025 · External reference
Management of 46,XY differences/disorders of sex development (DSD) throughout life
10.1210/er.2019-00049 · 2019 · External reference
Mutation update for the NR5A1 gene involved in DSD and infertility
10.1002/humu.23916 · ExternalCitation · doi-reference
Structural characterization of human Ad4 bp (SF-1) gene
10.1006/bbrc.1996.1343 · ExternalCitation · doi-reference
Ethical principles and recommendations for the medical management of differences of sex development (DSD)/intersex in children and adolescents
10.1007/s00431-009-1086-x · ExternalCitation · doi-reference
A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation
10.1016/0092-8674(94)90211-9 · ExternalCitation · doi-reference
46, XY under-virilization and NR5A1 variants: monocentric Indian experience and systematic review
10.1016/j.ando.2025.101731 · ExternalCitation · doi-reference
DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease
10.1016/j.beem.2015.07.004 · ExternalCitation · doi-reference
Genetics of 46,XY gonadal dysgenesis
10.1016/j.beem.2022.101633 · ExternalCitation · doi-reference
Gonadectomy in individuals with a difference of sex development—for whom, when, why, and why not?
10.1016/j.beem.2025.102019 · ExternalCitation · doi-reference
Oligogenic analysis across broad phenotypes of 46,XY differences in sex development associated with NR5A1/SF-1 variants: findings from the international SF1next study
10.1016/j.ebiom.2025.105624 · ExternalCitation · doi-reference
Consensus guide on prophylactic gonadectomy in different sex development
10.1016/j.endien.2022.10.002 · ExternalCitation · doi-reference
Predominant sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father
10.1016/j.fertnstert.2010.11.035 · ExternalCitation · doi-reference
Mutational and functional studies on NR5A1 gene in 46,XY disorders of sex development: identification of six novel loss of function mutations
10.1016/j.fertnstert.2018.02.123 · ExternalCitation · doi-reference
Surgery in disorders of sex development (DSD) with a gender issue: if (why), when, and how?
10.1016/j.jpurol.2016.04.001 · ExternalCitation · doi-reference
Molecular aspects of steroidogenic factor 1 (SF-1)
10.1016/j.mce.2009.07.003 · ExternalCitation · doi-reference
A versatile two-stage hypospadias repair
10.1016/s0007-1226(95)90023-3 · ExternalCitation · doi-reference
Steroidogenic factor 1 (NR5A1) resides in centrosomes and maintains genomic stability by controlling centrosome homeostasis
10.1038/cdd.2011.54 · ExternalCitation · doi-reference
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology
10.1038/gim.2015.30 · ExternalCitation · doi-reference
Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer
10.1038/nature06944 · ExternalCitation · doi-reference
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
10.1038/s41431-018-0202-7 · ExternalCitation · doi-reference
Mutations in NR5A1 associated with ovarian insufficiency
10.1056/nejmoa0806228 · ExternalCitation · doi-reference
Steroidogenic factor 1 (SF-1; NR5A1) regulates the formation of the ovarian reserve
10.1073/pnas.2220849120 · ExternalCitation · doi-reference
Spleen function is reduced in individuals with NR5A1 variants with or without a difference of sex development: a cross-sectional study
10.1093/ejendo/lvad174 · ExternalCitation · doi-reference
Swyer syndrome: presentation and outcomes
10.1111/j.1471-0528.2008.01703.x · ExternalCitation · doi-reference
Consensus statement on management of intersex disorders
10.1136/adc.2006.098319 · ExternalCitation · doi-reference
Male pseudohermaphroditism: a hitherto undescribed form
10.1136/bmj.2.4941.709 · ExternalCitation · doi-reference
Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development
10.1159/000152036 · ExternalCitation · doi-reference
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
10.1159/000338346 · ExternalCitation · doi-reference
Gene mutations associated with anomalies of human gonad formation
10.1159/000342188 · ExternalCitation · doi-reference
Identification of NR5A1 mutations and possible digenic inheritance in 46,XY gonadal dysgenesis
10.1159/000445983 · ExternalCitation · doi-reference
Steroidogenic factor 1: a key determinant of endocrine development and function
10.1210/edrv.18.3.0301 · ExternalCitation · doi-reference
Management of 46,XY differences/disorders of sex development (DSD) throughout life
10.1210/er.2019-00049 · ExternalCitation · doi-reference
Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals
10.1210/jc.2011-3169 · ExternalCitation · doi-reference
Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease
10.1210/me.2009-0519 · ExternalCitation · doi-reference
WNT4/beta-catenin Pathway maintains female germ cell survival by inhibiting activin betaB in the mouse fetal ovary
10.1371/journal.pone.0010382 · ExternalCitation · doi-reference
Fertility preservation in a family with a novel NR5A1 mutation
10.1507/endocrj.ej14-0340 · ExternalCitation · doi-reference
Gonadal malignancy risk and prophylactic gonadectomy in disorders of sexual development
10.1515/jpem-2014-0522 · ExternalCitation · doi-reference
Consensus statement on management of intersex disorders. International consensus conference on intersex
10.1542/peds.2006-0738 · ExternalCitation · doi-reference
Multifunctional role of steroidogenic factor 1 and disorders of sex development
10.1590/s0004-27302011000800015 · ExternalCitation · doi-reference
Disorders of sex development in a large Ukrainian cohort: clinical diversity and genetic findings
10.3389/fendo.2022.810782 · ExternalCitation · doi-reference
case report: severe gonadal dysgenesis causing 46,XY disorder of sex development due to a novel NR5A1 variant
10.3389/fgene.2022.885589 · ExternalCitation · doi-reference
Phenotype and molecular characterizations of 30 children from China with NR5A1 mutations
10.3389/fphar.2018.01224 · ExternalCitation · doi-reference
Role of NR5A1 gene mutations in disorders of sex development: molecular and clinical features
10.3390/cimb46050274 · ExternalCitation · doi-reference
Variants of STAR, AMH and ZFPM2/FOG2 may contribute towards the broad phenotype observed in 46,XY DSD patients with heterozygous variants of NR5A1
10.3390/ijms21228554 · ExternalCitation · doi-reference
