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Journal Abstract Search

297 related items for PubMed ID: 20818501

  • 21.
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  • 22. Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia.
    Marino R, Ramirez P, Galeano J, Perez Garrido N, Rocco C, Ciaccio M, Warman DM, Guercio G, Chaler E, Maceiras M, Bergadá I, Gryngarten M, Balbi V, Pardes E, Rivarola MA, Belgorosky A.
    Clin Endocrinol (Oxf); 2011 Oct; 75(4):427-35. PubMed ID: 21609351
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  • 27. A new CYP21A1P/CYP21A2 chimeric gene identified in an Italian woman suffering from classical congenital adrenal hyperplasia form.
    Concolino P, Mello E, Minucci A, Giardina E, Zuppi C, Toscano V, Capoluongo E.
    BMC Med Genet; 2009 Jul 22; 10():72. PubMed ID: 19624807
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  • 28. Molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: an update of new CYP21A2 mutations.
    Concolino P, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2010 Aug 22; 48(8):1057-62. PubMed ID: 20482300
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  • 31. Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report.
    Concolino P, Mello E, Toscano V, Ameglio F, Zuppi C, Capoluongo E.
    Clin Chim Acta; 2009 Apr 22; 402(1-2):164-70. PubMed ID: 19263525
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  • 32. [Development and application of a method for molecular diagnosis of 21-hydroxylase deficiency].
    Ma DY, Sun Y, Chen Y, Yang B, Cheng J, Huang ML, Zhang J, Zhang JJ, Hu P, Lin Y, Jiang T, Xu ZF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Feb 22; 30(1):49-54. PubMed ID: 23450479
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  • 33. Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency.
    Lee HH, Lee YJ, Wang YM, Chao HT, Niu DM, Chao MC, Tsai FJ, Lo FS, Lin SJ.
    Mol Genet Metab; 2008 Apr 22; 93(4):450-7. PubMed ID: 18039588
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  • 36. 21-Hydroxylase deficiency: Mutational spectrum and Genotype-Phenotype relations analyses by next-generation sequencing and multiplex ligation-dependent probe amplification.
    Turan I, Tastan M, Boga DD, Gurbuz F, Kotan LD, Tuli A, Yüksel B.
    Eur J Med Genet; 2020 Apr 22; 63(4):103782. PubMed ID: 31586465
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  • 37. Genetics of congenital adrenal hyperplasia and genotype-phenotype correlation.
    Narasimhan ML, Khattab A.
    Fertil Steril; 2019 Jan 22; 111(1):24-29. PubMed ID: 30611409
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  • 38. Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.
    Massimi A, Malaponti M, Federici L, Vinciguerra D, Manca Bitti ML, Vottero A, Ghizzoni L, Maccarrone M, Cappa M, Bernardini S, Porzio O.
    Horm Metab Res; 2014 Jun 22; 46(7):515-20. PubMed ID: 24799024
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  • 39. [Genetic analysis and prenatal diagnosis for 25 Chinese pedigrees affected with congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Luo C, Jiang T, Zhang J, Li L, Sun Y, Liu G, Wang Y, Cheng J, Ma D, Xu Z.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec 10; 35(6):832-835. PubMed ID: 30512157
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  • 40. CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
    Concolino P, Mello E, Zuppi C, Toscano V, Capoluongo E.
    Diagn Mol Pathol; 2013 Mar 10; 22(1):48-51. PubMed ID: 23370425
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