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4. 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]
5. 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]
6. The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. Köhler B; Lin L; Mazen I; Cetindag C; Biebermann H; Akkurt I; Rossi R; Hiort O; Grüters A; Achermann JC Eur J Endocrinol; 2009 Aug; 161(2):237-42. PubMed ID: 19439508 [TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency. Köhler B; Lin L; Ferraz-de-Souza B; Wieacker P; Heidemann P; Schröder V; Biebermann H; Schnabel D; Grüters A; Achermann JC Hum Mutat; 2008 Jan; 29(1):59-64. PubMed ID: 17694559 [TBL] [Abstract][Full Text] [Related]
11. Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals. Camats N; Pandey AV; Fernández-Cancio M; Andaluz P; Janner M; Torán N; Moreno F; Bereket A; Akcay T; García-García E; Muñoz MT; Gracia R; Nistal M; Castaño L; Mullis PE; Carrascosa A; Audí L; Flück CE J Clin Endocrinol Metab; 2012 Jul; 97(7):E1294-306. PubMed ID: 22549935 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. Tuhan H; Anik A; Catli G; Onay H; Aykut A; Abaci A; Bober E Andrologia; 2017 Feb; 49(1):. PubMed ID: 27135758 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects. Warman DM; Costanzo M; Marino R; Berensztein E; Galeano J; Ramirez PC; Saraco N; Baquedano MS; Ciaccio M; Guercio G; Chaler E; Maceiras M; Lazzatti JM; Bailez M; Rivarola MA; Belgorosky A Horm Res Paediatr; 2011; 75(1):70-7. PubMed ID: 20861607 [TBL] [Abstract][Full Text] [Related]
15. A report of two novel NR5A1 mutation families: possible clinical phenotype of psychiatric symptoms of anxiety and/or depression. Suwanai AS; Ishii T; Haruna H; Yamataka A; Narumi S; Fukuzawa R; Ogata T; Hasegawa T Clin Endocrinol (Oxf); 2013 Jun; 78(6):957-65. PubMed ID: 23095176 [TBL] [Abstract][Full Text] [Related]
16. 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]
17. Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. Peycelon M; Mansour-Hendili L; Hyon C; Collot N; Houang M; Legendre M; Chabaud M; Bouvier MD; Audry G; Amselem S; Siffroi JP Sex Dev; 2017; 11(5-6):293-297. PubMed ID: 29332064 [TBL] [Abstract][Full Text] [Related]
18. A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development. Bashamboo A; Donohoue PA; Vilain E; Rojo S; Calvel P; Seneviratne SN; Buonocore F; Barseghyan H; Bingham N; Rosenfeld JA; Mulukutla SN; Jain M; Burrage L; Dhar S; Balasubramanyam A; Lee B; ; Dumargne MC; Eozenou C; Suntharalingham JP; de Silva K; Lin L; Bignon-Topalovic J; Poulat F; Lagos CF; McElreavey K; Achermann JC Hum Mol Genet; 2016 Aug; 25(16):3446-3453. PubMed ID: 27378692 [TBL] [Abstract][Full Text] [Related]
19. Mutations in NR5A1 associated with ovarian insufficiency. Lourenço D; Brauner R; Lin L; De Perdigo A; Weryha G; Muresan M; Boudjenah R; Guerra-Junior G; Maciel-Guerra AT; Achermann JC; McElreavey K; Bashamboo A N Engl J Med; 2009 Mar; 360(12):1200-10. PubMed ID: 19246354 [TBL] [Abstract][Full Text] [Related]
20. [NR5A1 and ovarian failure]. Bashamboo A; Ravel C; Brauner R; McElreavey K Med Sci (Paris); 2009 Oct; 25(10):809-13. PubMed ID: 19849982 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]