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Journal Abstract Search

464 related items for PubMed ID: 15528927

  • 1. 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
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  • 2. 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
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  • 4. 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
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  • 5. 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
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  • 6. Compound heterozygous mutations in the SRD5A2 gene exon 4 in a male pseudohermaphrodite patient of Chinese origin.
    Fernández-Cancio M, Nistal M, Gracia R, Molina MA, Tovar JA, Esteban C, Carrascosa A, Audí L.
    J Androl; 2004 Jul; 25(3):412-6. PubMed ID: 15064320
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  • 7. 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
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  • 8. 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
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  • 9. 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 Jun; 31(4):358-64. PubMed ID: 20019388
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  • 10. 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
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  • 11. 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; 74(1):67-71. PubMed ID: 20395661
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  • 12. 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
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  • 16. New mutations, hotspots, and founder effects in Brazilian patients with steroid 5alpha-reductase deficiency type 2.
    Hackel C, Oliveira LE, Ferraz LF, Tonini MM, Silva DN, Toralles MB, Stuchi-Perez EG, Guerra-Junior G.
    J Mol Med (Berl); 2005 Jul; 83(7):569-76. PubMed ID: 15770495
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