173 related articles for article (PubMed ID: 19878766)
1. [SF-1, a key player in adrenal and gonadal differentiation: implications in gonadal dysgenesis and primary ovarian insufficiency].
Martinerie L; Bouvattier C; Lombes M
Ann Endocrinol (Paris); 2009 Sep; 70 Suppl 1():S26-32. PubMed ID: 19878766
[TBL] [Abstract][Full Text] [Related]
2. Update--steroidogenic factor 1 (SF-1, NR5A1).
Köhler B; Achermann JC
Minerva Endocrinol; 2010 Jun; 35(2):73-86. PubMed ID: 20595937
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. NR5A1/SF-1 and development and function of the ovary.
Bashamboo A; McElreavey K
Ann Endocrinol (Paris); 2010 May; 71(3):177-82. PubMed ID: 20394914
[TBL] [Abstract][Full Text] [Related]
5. Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease.
Schimmer BP; White PC
Mol Endocrinol; 2010 Jul; 24(7):1322-37. PubMed ID: 20203099
[TBL] [Abstract][Full Text] [Related]
6. Complete XY gonadal dysgenesis due to p.D293N homozygous mutation in the NR5A1 gene: a case study.
Soardi FC; Coeli FB; Maciel-Guerra AT; Guerra-Júnior G; Mello MP
J Appl Genet; 2010; 51(2):223-4. PubMed ID: 20453312
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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; Costanzo M; Guercio G; De Dona V; Marino R; Ramirez PC; Galeano J; Warman DM; Berensztein E; Saraco N; Baquedano MS; Chaler E; Maceiras M; Lazzatti JM; Rivarola MA; Belgorosky A
Horm Res Paediatr; 2012; 78(2):119-26. PubMed ID: 22907560
[TBL] [Abstract][Full Text] [Related]
9. Steroidogenic factor-1 and human disease.
El-Khairi R; Achermann JC
Semin Reprod Med; 2012 Oct; 30(5):374-81. PubMed ID: 23044873
[TBL] [Abstract][Full Text] [Related]
10. Role of DAX-1 (NR0B1) and steroidogenic factor-1 (NR5A1) in human adrenal function.
El-Khairi R; Martinez-Aguayo A; Ferraz-de-Souza B; Lin L; Achermann JC
Endocr Dev; 2011; 20():38-46. PubMed ID: 21164257
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Steroidogenic factor-1 (SF-1, NR5A1) and human disease.
Ferraz-de-Souza B; Lin L; Achermann JC
Mol Cell Endocrinol; 2011 Apr; 336(1-2):198-205. PubMed ID: 21078366
[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. 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]
17. Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
Mazen I; Abdel-Hamid M; Mekkawy M; Bignon-Topalovic J; Boudjenah R; El Gammal M; Essawi M; Bashamboo A; McElreavey K
Sex Dev; 2016; 10(3):147-51. PubMed ID: 27169744
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Comparative localization of Dax-1 and Ad4BP/SF-1 during development of the hypothalamic-pituitary-gonadal axis suggests their closely related and distinct functions.
Ikeda Y; Takeda Y; Shikayama T; Mukai T; Hisano S; Morohashi KI
Dev Dyn; 2001 Apr; 220(4):363-76. PubMed ID: 11307169
[TBL] [Abstract][Full Text] [Related]
20. Four Novel NR5A1 Mutations in 46,XY Gonadal Dysgenesis Patients Including Frameshift Mutations with Altered Subcellular SF-1 Localization.
Rehkämper J; Tewes AC; Horvath J; Scherer G; Wieacker P; Ledig S
Sex Dev; 2017; 11(5-6):248-253. PubMed ID: 29190620
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
