BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

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]
    of 10.