171 related articles for article (PubMed ID: 24231572)
1. A novel heterozygous mutation in steroidogenic factor-1 in pubertal virilization of a 46,XY female adolescent.
Sıklar Z; Berberoğlu M; Ceylaner S; Çamtosun E; Kocaay P; Göllü G; Sertçelik A; Öcal G
J Pediatr Adolesc Gynecol; 2014 Apr; 27(2):98-101. PubMed ID: 24231572
[TBL] [Abstract][Full Text] [Related]
2. Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth.
Cools M; Hoebeke P; Wolffenbuttel KP; Stoop H; Hersmus R; Barbaro M; Wedell A; Brüggenwirth H; Looijenga LH; Drop SL
Eur J Endocrinol; 2012 Feb; 166(2):341-9. PubMed ID: 22080441
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Spontaneous virilization around puberty in NR5A1-related 46,XY sex reversal: additional case and a literature review.
Adachi M; Hasegawa T; Tanaka Y; Asakura Y; Hanakawa J; Muroya K
Endocr J; 2018 Dec; 65(12):1187-1192. PubMed ID: 30224582
[TBL] [Abstract][Full Text] [Related]
5. Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations.
Tantawy S; Lin L; Akkurt I; Borck G; Klingmüller D; Hauffa BP; Krude H; Biebermann H; Achermann JC; Köhler B
Eur J Endocrinol; 2012 Jul; 167(1):125-30. PubMed ID: 22474171
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome.
Coutant R; Mallet D; Lahlou N; Bouhours-Nouet N; Guichet A; Coupris L; Croué A; Morel Y
J Clin Endocrinol Metab; 2007 Aug; 92(8):2868-73. PubMed ID: 17488792
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Testicular dysgenesis without adrenal insufficiency in a 46,XY patient with a heterozygous inactive mutation of steroidogenic factor-1.
Hasegawa T; Fukami M; Sato N; Katsumata N; Sasaki G; Fukutani K; Morohashi K; Ogata T
J Clin Endocrinol Metab; 2004 Dec; 89(12):5930-5. PubMed ID: 15579739
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Gonadal dysgenesis without adrenal insufficiency in a 46, XY patient heterozygous for the nonsense C16X mutation: a case of SF1 haploinsufficiency.
Mallet D; Bretones P; Michel-Calemard L; Dijoud F; David M; Morel Y
J Clin Endocrinol Metab; 2004 Oct; 89(10):4829-32. PubMed ID: 15472171
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis.
Chauhan V; Jyotsna VP; Jain V; Khadgawat R; Dada R
Horm Metab Res; 2017 Jan; 49(1):36-42. PubMed ID: 27711951
[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. [Pure 46,XY gonadal dysgenesis].
Ságodi L; Ladányi E; Kiss Á; Tar A; Lukács V; Minik K; Vámosi I
Orv Hetil; 2010 Nov; 151(48):1991-5. PubMed ID: 21084251
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.
Idkowiak J; Malunowicz EM; Dhir V; Reisch N; Szarras-Czapnik M; Holmes DM; Shackleton CH; Davies JD; Hughes IA; Krone N; Arlt W
J Clin Endocrinol Metab; 2010 Jul; 95(7):3418-27. PubMed ID: 20410220
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
