These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
4. Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function. Lin L; Philibert P; Ferraz-de-Souza B; Kelberman D; Homfray T; Albanese A; Molini V; Sebire NJ; Einaudi S; Conway GS; Hughes IA; Jameson JL; Sultan C; Dattani MT; Achermann JC J Clin Endocrinol Metab; 2007 Mar; 92(3):991-9. PubMed ID: 17200175 [TBL] [Abstract][Full Text] [Related]
5. Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development. Tantawy S; Mazen I; Soliman H; Anwar G; Atef A; El-Gammal M; El-Kotoury A; Mekkawy M; Torky A; Rudolf A; Schrumpf P; Grüters A; Krude H; Dumargne MC; Astudillo R; Bashamboo A; Biebermann H; Köhler B Eur J Endocrinol; 2014 May; 170(5):759-67. PubMed ID: 24591553 [TBL] [Abstract][Full Text] [Related]
6. Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex development. Fabbri-Scallet H; de Mello MP; Guerra-Júnior G; Maciel-Guerra AT; de Andrade JGR; de Queiroz CMC; Monlleó IL; Struve D; Hiort O; Werner R Hum Mutat; 2018 Jan; 39(1):114-123. PubMed ID: 29027717 [TBL] [Abstract][Full Text] [Related]
7. A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. Tajima T; Fujiwara F; Fujieda K Endocr J; 2009; 56(4):619-24. PubMed ID: 19318730 [TBL] [Abstract][Full Text] [Related]
8. 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; Amar A; Najeeb MN; Khaliq S Andrologia; 2016 Jun; 48(5):509-17. PubMed ID: 26260161 [TBL] [Abstract][Full Text] [Related]
9. The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency. Fabbri HC; de Andrade JG; Soardi FC; de Calais FL; Petroli RJ; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP BMC Med Genet; 2014 Jan; 15():7. PubMed ID: 24405868 [TBL] [Abstract][Full Text] [Related]
10. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development. Barbaro M; Cools M; Looijenga LH; Drop SL; Wedell A Sex Dev; 2011; 5(4):181-7. PubMed ID: 21654157 [TBL] [Abstract][Full Text] [Related]
11. Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. Philibert P; Zenaty D; Lin L; Soskin S; Audran F; Léger J; Achermann JC; Sultan C Hum Reprod; 2007 Dec; 22(12):3255-61. PubMed ID: 17940071 [TBL] [Abstract][Full Text] [Related]
12. NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. Fabbri HC; Ribeiro de Andrade JG; Maciel-Guerra AT; Guerra-Júnior G; de Mello MP Sex Dev; 2016; 10(4):191-199. PubMed ID: 27463801 [TBL] [Abstract][Full Text] [Related]
13. The importance of the multiplex ligation-dependent probe amplification in the identification of a novel two-exon deletion of the NR5A1 gene in a patient with 46,XY differences of sex development. Nagy O; Kárteszi J; Hartwig M; Bertalan R; Jávorszky E; Erhardt É; Patócs A; Tornóczky T; Balogh I; Ujfalusi A Mol Biol Rep; 2019 Oct; 46(5):5595-5601. PubMed ID: 31338750 [TBL] [Abstract][Full Text] [Related]
14. 46,XY disorder of sex development and developmental delay associated with a novel 9q33.3 microdeletion encompassing NR5A1. Brandt T; Blanchard L; Desai K; Nimkarn S; Cohen N; Edelmann L; Mehta L Eur J Med Genet; 2013 Nov; 56(11):619-23. PubMed ID: 24056159 [TBL] [Abstract][Full Text] [Related]
15. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. Allali S; Muller JB; Brauner R; Lourenço D; Boudjenah R; Karageorgou V; Trivin C; Lottmann H; Lortat-Jacob S; Nihoul-Fékété C; De Dreuzy O; McElreavey K; Bashamboo A PLoS One; 2011; 6(10):e24117. PubMed ID: 22028768 [TBL] [Abstract][Full Text] [Related]
16. Novel NR5A1 Pathogenic Variants Cause Phenotypic Heterogeneity in 46,XY Disorders of Sex Development. Sudhakar DVS; Jaishankar S; Regur P; Kumar U; Singh R; Kabilan U; Namduri S; Dhyani J; Gupta NJ; Chakravarthy B; Vaman K; Shabir I; Khadgawat R; Deenadayal M; Chaitanya A D; Dada R; Sharma Y; Anand A; Thangaraj K Sex Dev; 2019; 13(4):178-186. PubMed ID: 32008008 [TBL] [Abstract][Full Text] [Related]
17. Wide spectrum of NR5A1-related phenotypes in 46,XY and 46,XX individuals. Domenice S; Machado AZ; Ferreira FM; Ferraz-de-Souza B; Lerario AM; Lin L; Nishi MY; Gomes NL; da Silva TE; Silva RB; Correa RV; Montenegro LR; Narciso A; Costa EM; Achermann JC; Mendonca BB Birth Defects Res C Embryo Today; 2016 Dec; 108(4):309-320. PubMed ID: 28033660 [TBL] [Abstract][Full Text] [Related]
18. Characteristic testicular histology is useful for the identification of NR5A1 gene mutations in prepubertal 46,XY patients. Nishina-Uchida N; Fukuzawa R; Numakura C; Suwanai AS; Hasegawa T; Hasegawa Y Horm Res Paediatr; 2013; 80(2):119-28. PubMed ID: 23969951 [TBL] [Abstract][Full Text] [Related]
19. Screening and familial characterization of copy-number variations in NR5A1 in 46,XY disorders of sex development and premature ovarian failure. Harrison SM; Campbell IM; Keays M; Granberg CF; Villanueva C; Tannin G; Zinn AR; Castrillon DH; Shaw CA; Stankiewicz P; Baker LA Am J Med Genet A; 2013 Oct; 161A(10):2487-94. PubMed ID: 23918653 [TBL] [Abstract][Full Text] [Related]
20. Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency. Woo KH; Cheon B; Kim JH; Cho J; Kim GH; Yoo HW; Choi JH Horm Res Paediatr; 2015; 84(2):116-23. PubMed ID: 26139438 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]