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194 related items for PubMed ID: 23313747

  • 1. Variants of the CYP21A2 and CYP21A1P genes in congenital adrenal hyperplasia.
    Lee HH.
    Clin Chim Acta; 2013 Mar 15; 418():37-44. PubMed ID: 23313747
    [Abstract] [Full Text] [Related]

  • 2. Diversity of the CYP21A2 gene: a 6.2-kb TaqI fragment and a 3.2-kb TaqI fragment mistaken as CYP21A1P.
    Lee HH, Tsai FJ, Lee YJ, Yang YC.
    Mol Genet Metab; 2006 Aug 15; 88(4):372-7. PubMed ID: 16684614
    [Abstract] [Full Text] [Related]

  • 3. Comparing the Southern blot method and polymerase chain reaction product analysis for chimeric RCCX detection in CYP21A2 deficiency.
    Lee HH, Lee YJ, Chao MC.
    Anal Biochem; 2010 Apr 15; 399(2):293-8. PubMed ID: 19961824
    [Abstract] [Full Text] [Related]

  • 4. Analysis of the CYP21A1P pseudogene: indication of mutational diversity and CYP21A2-like and duplicated CYP21A2 genes.
    Tsai LP, Cheng CF, Chuang SH, Lee HH.
    Anal Biochem; 2011 Jun 15; 413(2):133-41. PubMed ID: 21324303
    [Abstract] [Full Text] [Related]

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

  • 6. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 7. Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module.
    Chang SF, Lee HH.
    Genet Test Mol Biomarkers; 2011 Sep 10; 15(1-2):35-42. PubMed ID: 21117955
    [Abstract] [Full Text] [Related]

  • 8. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
    Coeli FB, Soardi FC, Bernardi RD, de Araújo M, Paulino LC, Lau IF, Petroli RJ, de Lemos-Marini SH, Baptista MT, Guerra-Júnior G, de-Mello MP.
    BMC Med Genet; 2010 Jun 29; 11():104. PubMed ID: 20587039
    [Abstract] [Full Text] [Related]

  • 9. Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia.
    Vrzalová Z, Hrubá Z, Hrabincová ES, Vrábelová S, Votava F, Koloušková S, Fajkusová L.
    Eur J Med Genet; 2011 Jun 29; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 10. 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 29; 93(4):450-7. PubMed ID: 18039588
    [Abstract] [Full Text] [Related]

  • 11. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
    Chen W, Xu Z, Sullivan A, Finkielstain GP, Van Ryzin C, Merke DP, McDonnell NB.
    Clin Chem; 2012 Feb 29; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 12. Revisiting the association of HLA alleles and haplotypes with CYP21A2 mutations in a large cohort of patients with congenital adrenal hyperplasia.
    Jayakrishnan R, Lao Q, Adams SD, Ward WW, Merke DP.
    Gene; 2019 Mar 01; 687():30-34. PubMed ID: 30419250
    [Abstract] [Full Text] [Related]

  • 13. Salt-wasting congenital adrenal hyperplasia phenotype as a result of the TNXA/TNXB chimera 1 (CAH-X CH-1) and the pathogenic IVS2-13A/C > G in CYP21A2 gene.
    Fanis P, Skordis N, Phylactou LA, Neocleous V.
    Hormones (Athens); 2023 Mar 01; 22(1):71-77. PubMed ID: 36264454
    [Abstract] [Full Text] [Related]

  • 14. Sequence analysis of CYP21A1P in a German population to aid in the molecular biological diagnosis of congenital adrenal hyperplasia.
    Cantürk C, Baade U, Salazar R, Storm N, Pörtner R, Höppner W.
    Clin Chem; 2011 Mar 01; 57(3):511-7. PubMed ID: 21148302
    [Abstract] [Full Text] [Related]

  • 15. A rare CYP21A2 haplotype clarifies the phenotype-genotype discrepancy in an Italian patient with Non Classical Congenital Adrenal Hyperplasia (NC-CAH).
    Concolino P.
    Mol Biol Rep; 2020 Apr 01; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 16. High-resolution melting curve (HRM) analysis to establish CYP21A2 mutations converted from the CYP21A1P in congenital adrenal hyperplasia.
    Lin YC, Lin YC, Liu TC, Chang JG, Lee HH.
    Clin Chim Acta; 2011 Oct 09; 412(21-22):1918-23. PubMed ID: 21762683
    [Abstract] [Full Text] [Related]

  • 17. Targeted long-read sequencing for comprehensive detection of CYP21A2 mutations in patients with 21-hydroxylase deficiency.
    Zhang X, Gao Y, Lu L, Cao Y, Zhang W, Sun B, Wu X, Tong A, Chen S, Wang X, Mao J, Nie M.
    J Endocrinol Invest; 2024 Apr 09; 47(4):833-841. PubMed ID: 37815751
    [Abstract] [Full Text] [Related]

  • 18. Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
    Lee HH.
    Methods Mol Biol; 2014 Apr 09; 1167():275-87. PubMed ID: 24823785
    [Abstract] [Full Text] [Related]

  • 19. [Analysis of copy number variation of CYP21A2 gene and the type of CYP21A1P/CYP21A2 fused gene in patients with 21-hydroxylase deficiency].
    Gao YJ, Yu BQ, Lu L, Wu XY, Mao JF, Wang X, Tong AL, Chen S, Nie M.
    Zhonghua Yi Xue Za Zhi; 2019 Dec 24; 99(48):3765-3769. PubMed ID: 31874511
    [Abstract] [Full Text] [Related]

  • 20. Lack of genotypephenotype correlation in congenital adrenal hyperplasia due to a CYP21A2-like gene.
    Leccese A, Longo V, Dimatteo C, De Girolamo G, Trunzo R, D'Andrea G, Bafunno V, Margaglione M, Santacroce R.
    Clin Chim Acta; 2014 Nov 01; 437():48-51. PubMed ID: 25025300
    [Abstract] [Full Text] [Related]

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