BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

392 related articles for article (PubMed ID: 27849622)

  • 1. Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development.
    Ittiwut C; Pratuangdejkul J; Supornsilchai V; Muensri S; Hiranras Y; Sahakitrungruang T; Watcharasindhu S; Suphapeetiporn K; Shotelersuk V
    J Pediatr Endocrinol Metab; 2017 Jan; 30(1):19-26. PubMed ID: 27849622
    [TBL] [Abstract][Full Text] [Related]  

  • 2. AR and SRD5A2 gene mutations in a series of 51 Turkish 46,XY DSD children with a clinical diagnosis of androgen insensitivity.
    Akcay T; Fernandez-Cancio M; Turan S; Güran T; Audi L; Bereket A
    Andrology; 2014 Jul; 2(4):572-8. PubMed ID: 24737579
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Mutations in
    Akcan N; Uyguner O; Baş F; Altunoğlu U; Toksoy G; Karaman B; Avcı Ş; Yavaş Abalı Z; Poyrazoğlu Ş; Aghayev A; Karaman V; Bundak R; Başaran S; Darendeliler F
    J Clin Res Pediatr Endocrinol; 2022 Jun; 14(2):153-171. PubMed ID: 35135181
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Screening for mutations in 17β-hydroxysteroid dehydrogenase and androgen receptor in women presenting with partially virilised 46,XY disorders of sex development.
    Phelan N; Williams EL; Cardamone S; Lee M; Creighton SM; Rumsby G; Conway GS
    Eur J Endocrinol; 2015 Jun; 172(6):745-51. PubMed ID: 25740850
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Clinical characteristics and molecular genetics of complete androgen insensitivity syndrome patients: a series study of 30 cases from a Chinese tertiary medical center.
    Zhang D; Yao F; Tian T; Deng S; Luo M; Tian Q
    Fertil Steril; 2021 May; 115(5):1270-1279. PubMed ID: 33602557
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Molecular analysis of the AR and SRD5A2 genes in patients with 46,XY disorders of sex development.
    Choi JH; Kim GH; Seo EJ; Kim KS; Kim SH; Yoo HW
    J Pediatr Endocrinol Metab; 2008 Jun; 21(6):545-53. PubMed ID: 18717241
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Phenotypical, biological, and molecular heterogeneity of 5α-reductase deficiency: an extensive international experience of 55 patients.
    Maimoun L; Philibert P; Cammas B; Audran F; Bouchard P; Fenichel P; Cartigny M; Pienkowski C; Polak M; Skordis N; Mazen I; Ocal G; Berberoglu M; Reynaud R; Baumann C; Cabrol S; Simon D; Kayemba-Kay's K; De Kerdanet M; Kurtz F; Leheup B; Heinrichs C; Tenoutasse S; Van Vliet G; Grüters A; Eunice M; Ammini AC; Hafez M; Hochberg Z; Einaudi S; Al Mawlawi H; Nuñez CJ; Servant N; Lumbroso S; Paris F; Sultan C
    J Clin Endocrinol Metab; 2011 Feb; 96(2):296-307. PubMed ID: 21147889
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Undervirilization in XY newborns may hide a 5α-reductase deficiency: report of three new SRD5A2 gene mutations.
    Maimoun L; Philibert P; Cammas B; Audran F; Pienkowski C; Kurtz F; Heinrich C; Cartigny M; Sultan C
    Int J Androl; 2010 Dec; 33(6):841-7. PubMed ID: 20132346
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Clinical, hormonal and genetic characteristics of androgen insensitivity syndrome in 39 Chinese patients.
    Liu Q; Yin X; Li P
    Reprod Biol Endocrinol; 2020 Apr; 18(1):34. PubMed ID: 32345305
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Phenotype, genotype and gender identity in a large cohort of patients from India with 5α-reductase 2 deficiency.
    Shabir I; Khurana ML; Joseph AA; Eunice M; Mehta M; Ammini AC
    Andrology; 2015 Nov; 3(6):1132-9. PubMed ID: 26453174
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
    Audi L; Fernández-Cancio M; Carrascosa A; Andaluz P; Torán N; Piró C; Vilaró E; Vicens-Calvet E; Gussinyé M; Albisu MA; Yeste D; Clemente M; Hernández de la Calle I; Del Campo M; Vendrell T; Blanco A; Martínez-Mora J; Granada ML; Salinas I; Forn J; Calaf J; Angerri O; Martínez-Sopena MJ; Del Valle J; García E; Gracia-Bouthelier R; Lapunzina P; Mayayo E; Labarta JI; Lledó G; Sánchez Del Pozo J; Arroyo J; Pérez-Aytes A; Beneyto M; Segura A; Borrás V; Gabau E; Caimarí M; Rodríguez A; Martínez-Aedo MJ; Carrera M; Castaño L; Andrade M; Bermúdez de la Vega JA;
    J Clin Endocrinol Metab; 2010 Apr; 95(4):1876-88. PubMed ID: 20150575
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Investigation of androgen receptor gene mutations in a series of 21 patients with 46,XY disorders of sex development.
    Topcu V; Ilgin-Ruhi H; Siklar Z; Karabulut HG; Berberoglu M; Hacihamdioglu B; Savas-Erdeve S; Aycan Z; Peltek-Kendirci HN; Ocal G; Tukun FA
    J Pediatr Endocrinol Metab; 2015 Nov; 28(11-12):1257-63. PubMed ID: 26197461
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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]  

  • 20. Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.
    Nagaraja MR; Gubbala SP; Delphine Silvia CRW; Amanchy R
    Syst Biol Reprod Med; 2019 Apr; 65(2):105-120. PubMed ID: 30550360
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 20.