182 related articles for article (PubMed ID: 23112260)
21. Clinical and molecular characterization of 5α-reductase type 2 deficiency due to mutations (p.Q6X, p.R246Q) in SRD5A2 gene.
Jia W; Zheng D; Zhang L; Li C; Zhang X; Wang F; Guan Q; Fang L; Zhao J; Xu C
Endocr J; 2018 Jun; 65(6):645-655. PubMed ID: 29643321
[TBL] [Abstract][Full Text] [Related]
22. A novel SRD5A2 mutation in a Taiwanese newborn with ambiguous genitalia.
Tsai MC; Chou YY; Lin SJ; Tsai LP
Kaohsiung J Med Sci; 2012 Apr; 28(4):231-5. PubMed ID: 22453073
[TBL] [Abstract][Full Text] [Related]
23. Recognition of 5α-reductase-2 deficiency in an adult female 46XY DSD clinic.
Berra M; Williams EL; Muroni B; Creighton SM; Honour JW; Rumsby G; Conway GS
Eur J Endocrinol; 2011 Jun; 164(6):1019-25. PubMed ID: 21402750
[TBL] [Abstract][Full Text] [Related]
24. Mutational analysis of compound heterozygous mutation p.Q6X/p.H232R in SRD5A2 causing 46,XY disorder of sex development.
Li L; Zhang J; Li Q; Qiao L; Li P; Cui Y; Li S; Hao S; Wu T; Liu L; Yin J; Hu P; Dou X; Li S; Yang H
Ital J Pediatr; 2022 Mar; 48(1):47. PubMed ID: 35331321
[TBL] [Abstract][Full Text] [Related]
25. [Identification of a novel variant of SRD5A2 gene in a child featuring steroid 5α-reductase type 2 deficiency].
Li M; Che F; Qiu S; Wang Z
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Dec; 38(12):1233-1236. PubMed ID: 34839514
[TBL] [Abstract][Full Text] [Related]
26. Novel Deleterious Mutation in Steroid-5α-Reductase-2 in 46, XY Disorders of Sex Development: Case Report Study.
Rafigh M; Salmaninejad A; Sorouri Khorashad B; Arabi A; Milanizadeh S; Hiradfar M; Abbaszadegan MR
Fetal Pediatr Pathol; 2022 Feb; 41(1):141-148. PubMed ID: 32449406
[No Abstract] [Full Text] [Related]
27. 5alpha-reductase 2 gene mutations in three unrelated patients of Greek Cypriot origin: identification of an ancestral founder effect.
Skordis N; Patsalis PC; Bacopoulou I; Sismani C; Sultan C; Lumbroso S
J Pediatr Endocrinol Metab; 2005 Mar; 18(3):241-6. PubMed ID: 15813602
[TBL] [Abstract][Full Text] [Related]
28. Clinical, biochemical and morphologic diagnostic markers in an infant male pseudohermaphrodite patient with compound heterozygous mutations (G115D/R246W) in SRD5A2 gene.
Fernández-Cancio M; Rodó J; Andaluz P; Martínez de Osaba MJ; Rodríguez-Hierro F; Esteban C; Carrascosa A; Audí L
Horm Res; 2004; 62(5):259-64. PubMed ID: 15528927
[TBL] [Abstract][Full Text] [Related]
29. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
Skordis N; Neocleous V; Kyriakou A; Efstathiou E; Sertedaki A; Philibert P; Phylactou LA; Lumbroso S; Sultan C
J Endocrinol Invest; 2010 Dec; 33(11):810-4. PubMed ID: 20511729
[TBL] [Abstract][Full Text] [Related]
30. Difficulties in diagnosis and treatment of 5alpha-reductase type 2 deficiency in a newborn with 46,XY DSD.
Walter KN; Kienzle FB; Frankenschmidt A; Hiort O; Wudy SA; van der Werf-Grohmann N; Superti-Furga A; Schwab KO
Horm Res Paediatr; 2010; 74(1):67-71. PubMed ID: 20395661
[TBL] [Abstract][Full Text] [Related]
31. Identification of missense mutations in the SRD5A2 gene from patients with steroid 5alpha-reductase 2 deficiency.
Vilchis F; Méndez JP; Canto P; Lieberman E; Chávez B
Clin Endocrinol (Oxf); 2000 Mar; 52(3):383-7. PubMed ID: 10718838
[TBL] [Abstract][Full Text] [Related]
32. Homozygous Ala65Pro Mutation with V89L Polymorphism in SRD5A2 Deficiency.
Eren E; Edgünlü T; Asut E; Karakaş Çelik S
J Clin Res Pediatr Endocrinol; 2016 Jun; 8(2):218-23. PubMed ID: 26761946
[TBL] [Abstract][Full Text] [Related]
33. Molecular analysis of the SRD5A2 in 46,XY subjects with incomplete virilization: the P212R substitution of the steroid 5alpha-reductase 2 may constitute an ancestral founder mutation in Mexican patients.
Vilchis F; Ramos L; Méndez JP; Benavides S; Canto P; Chávez B
J Androl; 2010; 31(4):358-64. PubMed ID: 20019388
[TBL] [Abstract][Full Text] [Related]
34. Comparison between two inhibin B ELISA assays in 46,XY testicular disorders of sex development (DSD) with normal testosterone secretion.
Guaragna-Filho G; Calixto AR; De Paula GB; De Oliveira LC; Morcillo AM; De Mello MP; Maciel-Guerra AT; Guerra-Junior G
J Pediatr Endocrinol Metab; 2018 Jan; 31(2):191-194. PubMed ID: 29306929
[TBL] [Abstract][Full Text] [Related]
35. Five novel mutations of SRD5A2 found in eight Chinese patients with 46,XY disorders of sex development.
Nie M; Zhou Q; Mao J; Lu S; Wu X
Mol Hum Reprod; 2011 Jan; 17(1):57-62. PubMed ID: 20736251
[TBL] [Abstract][Full Text] [Related]
36. 5α-Reductase type 2 deficiency in families from an isolated Andean population in Venezuela.
Avendaño A; González-Coira M; Paradisi I; Rojas A; Da Silva G; Gómez-Pérez R; Ceballos JO
Ann Hum Genet; 2020 Mar; 84(2):151-160. PubMed ID: 31613402
[TBL] [Abstract][Full Text] [Related]
37. Clinical and genetic analysis of three Chinese patients with steroid 5α-reductase type 2 deficiency.
Yang Y; Wang BA; Guo QH; Dou JT; Lv ZH; Ba JM; Lu JM; Pan CY; Mu YM
J Pediatr Endocrinol Metab; 2012; 25(11-12):1077-82. PubMed ID: 23329752
[TBL] [Abstract][Full Text] [Related]
38. Correlation of androgen receptor and SRD5A2 gene mutations with pediatric hypospadias in 46, XY DSD children.
Fu XH; Zhang WQ; Qu XS
Genet Mol Res; 2016 Mar; 15(1):15018232. PubMed ID: 27051040
[TBL] [Abstract][Full Text] [Related]
39. Mutation analysis of the SRD5A2, AR and SF-1 genes in 52 Chinese boys with hypospadias.
Wang R; Dong Z; Wang W; Xiao Y; Ni J; Wang D
J Pediatr Endocrinol Metab; 2013; 26(9-10):887-93. PubMed ID: 23729601
[TBL] [Abstract][Full Text] [Related]
40. Molecular investigation of mutations in androgen receptor and 5-alpha-reductase-2 genes in 46,XY Disorders of Sex Development with normal testicular development.
Ahmadifard M; Kajbafzadeh A; Panjeh-Shahi S; Vand-Rajabpour F; Ahmadi-Beni R; Arshadi H; Setoodeh A; Rostami P; Tavakkoly-Bazzaz J; Tabrizi M
Andrologia; 2019 Jun; 51(5):e13250. PubMed ID: 30815925
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]