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499 related items for PubMed ID: 21147889

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

  • 2. 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 Feb; 62(5):259-64. PubMed ID: 15528927
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. 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; 83(4):518-26. PubMed ID: 25899528
    [Abstract] [Full Text] [Related]

  • 5. 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
    [Abstract] [Full Text] [Related]

  • 6. 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
    [Abstract] [Full Text] [Related]

  • 7. 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
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic variation in a family with partial androgen insensitivity syndrome explained by differences in 5alpha dihydrotestosterone availability.
    Boehmer AL, Brinkmann AO, Nijman RM, Verleun-Mooijman MC, de Ruiter P, Niermeijer MF, Drop SL.
    J Clin Endocrinol Metab; 2001 Mar; 86(3):1240-6. PubMed ID: 11238515
    [Abstract] [Full Text] [Related]

  • 9. 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; 56(10):685-692. PubMed ID: 31186340
    [Abstract] [Full Text] [Related]

  • 10. 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; 22(3):247-54. PubMed ID: 19492581
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. Molecular diagnosis of 5α-reductase deficiency in 4 elite young female athletes through hormonal screening for hyperandrogenism.
    Fénichel P, Paris F, Philibert P, Hiéronimus S, Gaspari L, Kurzenne JY, Chevallier P, Bermon S, Chevalier N, Sultan C.
    J Clin Endocrinol Metab; 2013 Jun; 98(6):E1055-9. PubMed ID: 23633205
    [Abstract] [Full Text] [Related]

  • 14. 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; 165(Pt A):79-85. PubMed ID: 27163392
    [Abstract] [Full Text] [Related]

  • 15. 5α-Reductase-2 Deficiency: Clinical Findings, Endocrine Pitfalls, and Genetic Features in a Large Italian Cohort.
    Bertelloni S, Baldinotti F, Russo G, Ghirri P, Dati E, Michelucci A, Moscuzza F, Meroni S, Colombo I, Sessa MR, Baroncelli GI.
    Sex Dev; 2016 Jan; 10(1):28-36. PubMed ID: 27070133
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 01; 115(5):1270-1279. PubMed ID: 33602557
    [Abstract] [Full Text] [Related]

  • 18. Phenotypic and molecular characteristics in eleven Chinese patients with 5α-reductase Type 2 deficiency.
    Zhu H, Liu W, Han B, Fan M, Zhao S, Wang H, Lu Y, Pan C, Chen F, Chen M, Song H, Cheng K, Qiao J.
    Clin Endocrinol (Oxf); 2014 Nov 01; 81(5):711-20. PubMed ID: 24665940
    [Abstract] [Full Text] [Related]

  • 19. 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 Nov 01; 74(1):67-71. PubMed ID: 20395661
    [Abstract] [Full Text] [Related]

  • 20. Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.
    Ko JM, Cheon CK, Kim GH, Kim SH, Kim KS, Yoo HW.
    Horm Res Paediatr; 2010 Nov 01; 73(1):41-8. PubMed ID: 20190539
    [Abstract] [Full Text] [Related]

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