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Journal Abstract Search

190 related items for PubMed ID: 19624807

  • 21. 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; 57(3):511-7. PubMed ID: 21148302
    [Abstract] [Full Text] [Related]

  • 22. 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; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

  • 23. 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; 410(1-2):48-53. PubMed ID: 19778530
    [Abstract] [Full Text] [Related]

  • 24. Genotyping of CYP21A2 for congenital adrenal hyperplasia screening using allele-specific primer extension followed by bead array hybridization.
    Oh Y, Park SW, Chun SM, Lim N, Ahn KS, Ka JO, Jin DK, Han BD.
    Mol Diagn Ther; 2009 Dec 01; 13(6):397-405. PubMed ID: 19925038
    [Abstract] [Full Text] [Related]

  • 25. 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]

  • 26. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
    Manfras BJ, Swinyard M, Rudert WA, Ball EJ, Lee PA, Kühnl P, Trucco M, Böhm BO.
    Hum Genet; 1993 Aug 09; 92(1):33-9. PubMed ID: 8365724
    [Abstract] [Full Text] [Related]

  • 27. Molecular analysis of the CYP21A2 gene in Chinese patients with steroid 21-hydroxylase deficiency.
    Ma D, Chen Y, Sun Y, Yang B, Cheng J, Huang M, Zhang J, Zhang J, Hu P, Lin Y, Jiang T, Xu Z.
    Clin Biochem; 2014 Apr 09; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 28. The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency.
    Lee YJ, Tsai LP, Niu DM, Shu SG, Chao MC, Lee HH.
    Mol Genet Metab; 2009 May 09; 97(1):75-9. PubMed ID: 19201236
    [Abstract] [Full Text] [Related]

  • 29. 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 09; 92(10):4028-34. PubMed ID: 17666484
    [Abstract] [Full Text] [Related]

  • 30. Duplications of the functional CYP21A2 gene are primarily restricted to Q318X alleles: evidence for a founder effect.
    Kleinle S, Lang R, Fischer GF, Vierhapper H, Waldhauser F, Födinger M, Baumgartner-Parzer SM.
    J Clin Endocrinol Metab; 2009 Oct 09; 94(10):3954-8. PubMed ID: 19773403
    [Abstract] [Full Text] [Related]

  • 31. Functional analysis of two rare CYP21A2 mutations detected in Italian patients with a mildest form of congenital adrenal hyperplasia.
    Concolino P, Vendittelli F, Mello E, Minucci A, Carrozza C, Rossodivita A, Giardina B, Zuppi C, Capoluongo E.
    Clin Endocrinol (Oxf); 2009 Oct 09; 71(4):470-6. PubMed ID: 19170707
    [Abstract] [Full Text] [Related]

  • 32. 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 09; 93(4):450-7. PubMed ID: 18039588
    [Abstract] [Full Text] [Related]

  • 33. 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 Apr 09; 15(1-2):35-42. PubMed ID: 21117955
    [Abstract] [Full Text] [Related]

  • 34. Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation.
    Araujo RS, Billerbeck AE, Madureira G, Mendonca BB, Bachega TA.
    Clin Endocrinol (Oxf); 2005 Feb 09; 62(2):132-6. PubMed ID: 15670187
    [Abstract] [Full Text] [Related]

  • 35. Clinical phenotype and mutation spectrum of the CYP21A2 gene in patients with steroid 21-hydroxylase deficiency.
    Choi JH, Jin HY, Lee BH, Ko JM, Lee JJ, Kim GH, Jung CW, Lee J, Yoo HW.
    Exp Clin Endocrinol Diabetes; 2012 Jan 09; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 36. Mutational characterization of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Malaysia.
    Balraj P, Lim PG, Sidek H, Wu LL, Khoo AS.
    J Endocrinol Invest; 2013 Jun 09; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 37. 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 09; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 38. 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 09; 402(1-2):164-70. PubMed ID: 19263525
    [Abstract] [Full Text] [Related]

  • 39. 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 09; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 40. A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia.
    Menabò S, Balsamo A, Baldazzi L, Barbaro M, Nicoletti A, Conti V, Pirazzoli P, Wedell A, Cicognani A.
    J Endocrinol Invest; 2012 Mar 09; 35(3):298-305. PubMed ID: 21521936
    [Abstract] [Full Text] [Related]

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