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Journal Abstract Search

240 related items for PubMed ID: 20019388

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  • 3. 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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  • 4. 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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  • 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. Uniparental disomy in steroid 5alpha-reductase 2 deficiency.
    Chávez B, Valdez E, Vilchis F.
    J Clin Endocrinol Metab; 2000 Sep; 85(9):3147-50. PubMed ID: 10999800
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  • 9. 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
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  • 10. 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; 81(5):711-20. PubMed ID: 24665940
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  • 11. 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
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  • 15. The IVS1-2A>G mutation in the SRD5A2 gene predominates in Cypriot patients with 5α reductase deficiency.
    Skordis N, Neocleous V, Kyriakou A, Efstathiou E, Sertedaki A, Philibert P, Phylactou LA, Lumbroso S, Sultan C.
    J Endocrinol Invest; 2010 Dec; 33(11):810-4. PubMed ID: 20511729
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  • 16. 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
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  • 18. 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
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  • 19. 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 01; 56(10):685-692. PubMed ID: 31186340
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  • 20. New Territory for an Old Disease: 5-Alpha-Reductase Type 2 Deficiency in Bulgaria.
    Andonova S, Robeva R, Vazharova R, Ledig S, Grozdanova L, Stefanova E, Bradinova I, Todorov T, Hadjidekov G, Sirakov M, Wieacker P, Kumanov P, Savov A.
    Sex Dev; 2017 Oct 01; 11(1):21-28. PubMed ID: 28110336
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