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Journal Abstract Search

212 related items for PubMed ID: 20970527

  • 1. 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; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 2. 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; 58(2):421-30. PubMed ID: 22156666
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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]

  • 5. Identification of CYP21A2 mutant alleles in Czech patients with 21-hydroxylase deficiency.
    Vrzalová Z, Hrubá Z, St'ahlová Hrabincová E, Pouchlá S, Votava F, Kolousková S, Fajkusová L.
    Int J Mol Med; 2010 Oct 29; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 6. Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
    Lee HH.
    Methods Mol Biol; 2014 Oct 29; 1167():275-87. PubMed ID: 24823785
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. Congenital adrenal hyperplasia due to two rare CYP21A2 variant alleles, including a novel attenuated CYP21A1P/CYP21A2 chimera.
    Lao Q, Burkardt DD, Kollender S, Faucz FR, Merke DP.
    Mol Genet Genomic Med; 2023 Jul 01; 11(7):e2195. PubMed ID: 37157918
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. A new CYP21A2 nonsense mutation causing severe 21-hydroxylase deficiency.
    Concolino P, Minucci A, Mello E, Zuppi C, Capoluongo E.
    Clin Chem Lab Med; 2009 Sep 10; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 11. Application of the DHPLC method for mutational detection of the CYP21A2 gene in congenital adrenal hyperplasia.
    Tsai LP, Cheng CF, Hsieh JP, Teng MS, Lee HH.
    Clin Chim Acta; 2009 Dec 10; 410(1-2):48-53. PubMed ID: 19778530
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation.
    Toraman B, Ökten A, Kalay E, Karagüzel G, Dinçer T, Açıkgöz EG, Karagüzel A.
    Gene; 2013 Jan 15; 513(1):202-8. PubMed ID: 23142378
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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]

  • 16. [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]

  • 17. Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency.
    Araújo RS, Mendonca BB, Barbosa AS, Lin CJ, Marcondes JA, Billerbeck AE, Bachega TA.
    J Clin Endocrinol Metab; 2007 Oct 24; 92(10):4028-34. PubMed ID: 17666484
    [Abstract] [Full Text] [Related]

  • 18. p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
    Concolino P, Mello E, Patrosso MC, Penco S, Zuppi C, Capoluongo E.
    Metabolism; 2012 Apr 24; 61(4):519-24. PubMed ID: 22014889
    [Abstract] [Full Text] [Related]

  • 19. Steroid 21-hydroxylase gene mutational spectrum in 50 Tunisian patients: characterization of three novel polymorphisms.
    Ben Charfeddine I, Riepe FG, Clauser E, Ayedi A, Makni S, Sfar MT, Sboui H, Kahloul N, Ben Hamouda H, Chouchane S, Trimech S, Zouari N, M'Rabet S, Amri F, Saad A, Holterhus PM, Gribaa M.
    Gene; 2012 Oct 01; 507(1):20-6. PubMed ID: 22841790
    [Abstract] [Full Text] [Related]

  • 20. 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]

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