| review article | Q7318358 |
| scholarly article | Q13442814 |
| P2093 | author name string | Yee-Ming Chan | |
| Jonathan M Swartz | |||
| Jessica Kremen | |||
| P2860 | cites work | A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif | Q24301723 |
| Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade | Q24316357 | ||
| Mutations in NR5A1 associated with ovarian insufficiency | Q24655709 | ||
| DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease | Q26798022 | ||
| Characterization and expression of a cDNA encoding the human androgen receptor | Q28360106 | ||
| Exome sequencing: a transformative technology | Q28731354 | ||
| A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development | Q29147443 | ||
| NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development | Q29147494 | ||
| Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer | Q33331554 | ||
| Autosomal XX sex reversal caused by duplication of SOX9. | Q33882931 | ||
| Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 | Q34169445 | ||
| Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males | Q34321595 | ||
| Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database | Q34385164 | ||
| Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study | Q34701653 | ||
| Exome sequencing for the diagnosis of 46,XY disorders of sex development. | Q35055057 | ||
| Familial 46,XY sex reversal without campomelic dysplasia caused by a deletion upstream of the SOX9 gene | Q35095022 | ||
| Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1 | Q35220379 | ||
| From SRY to SOX9: mammalian testis differentiation | Q36208398 | ||
| Consensus statement on management of intersex disorders. | Q37306928 | ||
| Two cases of isolated diffuse mesangial sclerosis with WT1 mutations | Q37323778 | ||
| WT1 in disease: shifting the epithelial-mesenchymal balance. | Q37940867 | ||
| Management of disorders of sex development | Q38229279 | ||
| Gonadal development | Q38253408 | ||
| Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development | Q38903739 | ||
| Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development. | Q38918334 | ||
| Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations | Q40923262 | ||
| Inherited WT1 mutation in Denys-Drash syndrome | Q42100733 | ||
| A rare case of 46, XX SRY-negative male with approximately 74-kb duplication in a region upstream of SOX9. | Q44657683 | ||
| Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals | Q45423123 | ||
| Steroidogenic factor 1 messenger ribonucleic acid expression in steroidogenic and nonsteroidogenic human tissues: Northern blot and in situ hybridization studies | Q48699893 | ||
| Two Unrelated Undervirilized 46,XY Males with Inherited NR5A1 Variants Identified by Whole-Exome Sequencing | Q50188676 | ||
| Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development. | Q52896148 | ||
| Genotype-phenotype analysis of pediatric patients with WT1 glomerulopathy. | Q53084424 | ||
| Localization of SRY by primed in situ labeling in XX and XY sex reversal | Q73179809 | ||
| Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD) | Q87165071 | ||
| P433 | issue | 1 | |
| P304 | page(s) | 1-6 | |
| P577 | publication date | 2017-01-01 | |
| P1433 | published in | Current Opinion in Urology | Q15746610 |
| P1476 | title | Recent findings on the genetics of disorders of sex development | |
| P478 | volume | 27 |
| Q99413967 | Applying Single-Cell Analysis to Gonadogenesis and DSDs (Disorders/Differences of Sex Development) | cites work | P2860 |
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