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Journal Abstract Search

297 related items for PubMed ID: 21402750

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. 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
    [Abstract] [Full Text] [Related]

  • 3. Validation of steroid ratios for random urine by mass spectrometry to detect 5α-reductase deficiency in Vietnamese children.
    Tran TCM, Tran TNA, Le HBN, Nguyen VH, Tran MD, Vu CD, Greaves RF.
    Clin Chem Lab Med; 2022 Jul 26; 60(8):1225-1233. PubMed ID: 35607271
    [Abstract] [Full Text] [Related]

  • 4. 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 27; 65(6):645-655. PubMed ID: 29643321
    [Abstract] [Full Text] [Related]

  • 5. New insights into 5α-reductase type 2 deficiency based on a multi-centre study: regional distribution and genotype-phenotype profiling of SRD5A2 in 190 Chinese patients.
    Gui B, Song Y, Su Z, Luo FH, Chen L, Wang X, Chen R, Yang Y, Wang J, Zhao X, Fan L, Liu X, Wang Y, Chen S, Gong C.
    J Med Genet; 2019 Oct 27; 56(10):685-692. PubMed ID: 31186340
    [Abstract] [Full Text] [Related]

  • 6. Effects of pre- and post-pubertal dihydrotestosterone treatment on penile length in 5α-reductase type 2 deficiency.
    Sasaki G, Ishii T, Hori N, Amano N, Homma K, Sato S, Hasegawa T.
    Endocr J; 2019 Sep 28; 66(9):837-842. PubMed ID: 31178538
    [Abstract] [Full Text] [Related]

  • 7. Phenotype and molecular characteristics in 45 Chinese children with 5α-reductase type 2 deficiency from South China.
    Cheng J, Lin R, Zhang W, Liu G, Sheng H, Li X, Zhou Z, Mao X, Liu L.
    Clin Endocrinol (Oxf); 2015 Oct 28; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

  • 8. 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 Oct 28; 31(4):358-64. PubMed ID: 20019388
    [Abstract] [Full Text] [Related]

  • 9. 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 01; 30(1):19-26. PubMed ID: 27849622
    [Abstract] [Full Text] [Related]

  • 10. Mutations in AR or SRD5A2 Genes: Clinical Findings, Endocrine Pitfalls, and Genetic Features of Children with 46,XY DSD.
    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 07; 14(2):153-171. PubMed ID: 35135181
    [Abstract] [Full Text] [Related]

  • 11. 46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.
    Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S.
    J Steroid Biochem Mol Biol; 2017 Jan 07; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 12. Identification of three novel SRD5A2 mutations in Chinese patients with 5α-reductase 2 deficiency.
    Cheng T, Wang H, Han B, Zhu H, Yao HJ, Zhao SX, Zhu WJ, Zhai HL, Chen FG, Song HD, Cheng KX, Liu Y, Qiao J.
    Asian J Androl; 2019 Jan 07; 21(6):577-581. PubMed ID: 31031332
    [Abstract] [Full Text] [Related]

  • 13. The Molecular Basis of 5α-Reductase Type 2 Deficiency.
    Batista RL, Mendonca BB.
    Sex Dev; 2022 Jan 07; 16(2-3):171-183. PubMed ID: 35793650
    [Abstract] [Full Text] [Related]

  • 14. Genetic analysis of the SRD5A2 gene in Indian patients with 5alpha-reductase deficiency.
    Sahu R, Boddula R, Sharma P, Bhatia V, Greaves R, Rao S, Desai M, Wakhlu A, Phadke S, Shukla M, Dabadghao P, Mehrotra RN, Bhatia E.
    J Pediatr Endocrinol Metab; 2009 Mar 07; 22(3):247-54. PubMed ID: 19492581
    [Abstract] [Full Text] [Related]

  • 15. 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 Mar 07; 74(1):67-71. PubMed ID: 20395661
    [Abstract] [Full Text] [Related]

  • 16. 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 31; 15(1):15018232. PubMed ID: 27051040
    [Abstract] [Full Text] [Related]

  • 17. 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 31; 3(6):1132-9. PubMed ID: 26453174
    [Abstract] [Full Text] [Related]

  • 18. Diagnosis of 5α-reductase 2 deficiency: is measurement of dihydrotestosterone essential?
    Chan AO, But BW, Lee CY, Lam YY, Ng KL, Tung JY, Kwan EY, Chan YK, Tsui TK, Lam AL, Tse WY, Cheung PT, Shek CC.
    Clin Chem; 2013 May 31; 59(5):798-806. PubMed ID: 23513070
    [Abstract] [Full Text] [Related]

  • 19. Diagnosis of 5alpha-reductase 2 deficiency: a local experience.
    Chan AO, But BW, Lau GT, Lam AL, Ng KL, Lam YY, Lee CY, Shek CC.
    Hong Kong Med J; 2009 Apr 31; 15(2):130-5. PubMed ID: 19342739
    [Abstract] [Full Text] [Related]

  • 20. Late diagnosis of 5alpha steroid-reductase deficiency due to IVS12A>G mutation of the SRD5a2 gene in an adolescent girl presented with primary amenorrhea.
    Skordis N, Shammas C, Efstathiou E, Sertedaki A, Neocleous V, Phylactou L.
    Hormones (Athens); 2011 Apr 31; 10(3):230-5. PubMed ID: 22001134
    [Abstract] [Full Text] [Related]

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