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Journal Abstract Search

248 related items for PubMed ID: 15770495

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  • 3. 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
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  • 4. Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.
    Vilchis F, Valdez E, Ramos L, García R, Gómez R, Chávez B.
    J Hum Genet; 2008; 53(5):401-406. PubMed ID: 18350250
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  • 5. 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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  • 6. 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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  • 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. 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
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  • 13. 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 05; 8(2):218-23. PubMed ID: 26761946
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  • 14. 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 05; 56(10):685-692. PubMed ID: 31186340
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  • 17. The identification of 5 alpha-reductase-2 and 17 beta-hydroxysteroid dehydrogenase-3 gene defects in male pseudohermaphrodites from a Turkish kindred.
    Can S, Zhu YS, Cai LQ, Ling Q, Katz MD, Akgun S, Shackleton CH, Imperato-McGinley J.
    J Clin Endocrinol Metab; 1998 Feb 05; 83(2):560-9. PubMed ID: 9467575
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  • 18. New frameshift mutation in the 5alpha-reductase type 2 gene in a Brazilian patient with 5alpha-reductase deficiency.
    Ferraz LF, Mathias Baptista MT, Maciel-Guerra AT, Júnior GG, Hackel C.
    Am J Med Genet; 1999 Nov 26; 87(3):221-5. PubMed ID: 10564874
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  • 19. 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 26; 81(5):711-20. PubMed ID: 24665940
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  • 20. [The importance of DNA analysis in the diagnosis of steroid 5-alpha-reductase deficiency].
    Kostyrko A, Antkowiak J, Warenik-Szymankiewicz A, Trzeciak WH.
    Ginekol Pol; 1994 Jul 26; 65(7):400-6. PubMed ID: 8001864
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