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Journal Abstract Search

261 related items for PubMed ID: 19925038

  • 21. [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
    [Abstract] [Full Text] [Related]

  • 22. 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 Dec 10; 47(7):824-5. PubMed ID: 19499972
    [Abstract] [Full Text] [Related]

  • 23. CYP21A2 gene mutations in congenital adrenal hyperplasia: genotype-phenotype correlation in Turkish children.
    Baş F, Kayserili H, Darendeliler F, Uyguner O, Günöz H, Yüksel Apak M, Atalar F, Bundak R, Wilson RC, New MI, Wollnik B, Saka N.
    J Clin Res Pediatr Endocrinol; 2009 Dec 10; 1(3):116-28. PubMed ID: 21274396
    [Abstract] [Full Text] [Related]

  • 24. Long-read sequencing: An effective method for genetic analysis of CYP21A2 variation in congenital adrenal hyperplasia.
    Li H, Zhu X, Yang Y, Wang W, Mao A, Li J, Bao S, Li J.
    Clin Chim Acta; 2023 Jul 01; 547():117419. PubMed ID: 37276943
    [Abstract] [Full Text] [Related]

  • 25. Mutational analysis of CYP21A2 gene and CYP21A1P pseudogene: long-range PCR on genomic DNA.
    Lee HH.
    Methods Mol Biol; 2014 Jul 01; 1167():275-87. PubMed ID: 24823785
    [Abstract] [Full Text] [Related]

  • 26. 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 01; 47(6):455-63. PubMed ID: 24503005
    [Abstract] [Full Text] [Related]

  • 27. Pitfalls of PCR-based genotyping in patients with 21-hydroxylase deficiency.
    Tsai CH, Lin WD, Tsai FJ, Peng CT, Wu JY.
    Acta Paediatr Taiwan; 2001 Apr 01; 42(3):145-50. PubMed ID: 11431859
    [Abstract] [Full Text] [Related]

  • 28. 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 01; 35(3):298-305. PubMed ID: 21521936
    [Abstract] [Full Text] [Related]

  • 29. 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]

  • 30. 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]

  • 31. [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 15; 30(1):49-54. PubMed ID: 23450479
    [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 15; 93(4):450-7. PubMed ID: 18039588
    [Abstract] [Full Text] [Related]

  • 33. 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 Apr 15; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 34. 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 15; 36(6):366-74. PubMed ID: 23027774
    [Abstract] [Full Text] [Related]

  • 35. 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 15; 75(4):427-35. PubMed ID: 21609351
    [Abstract] [Full Text] [Related]

  • 36. Predisposition for de novo gene aberrations in the offspring of mothers with a duplicated CYP21A2 gene.
    Baumgartner-Parzer SM, Fischer G, Vierhapper H.
    J Clin Endocrinol Metab; 2007 Mar 15; 92(3):1164-7. PubMed ID: 17164306
    [Abstract] [Full Text] [Related]

  • 37. Molecular analysis of the CYP21A2 gene in dried blood spot samples.
    Marino S, Perez Garrido N, Ramírez P, Pujana M, Dratler G, Belgorosky A, Marino R.
    Medicina (B Aires); 2020 Mar 15; 80(3):197-202. PubMed ID: 32442933
    [Abstract] [Full Text] [Related]

  • 38. Clinical application of a novel next generation sequencing assay for CYP21A2 gene in 310 cases of 21- hydroxylase congenital adrenal hyperplasia from India.
    Gangodkar P, Khadilkar V, Raghupathy P, Kumar R, Dayal AA, Dayal D, Ayyavoo A, Godbole T, Jahagirdar R, Bhat K, Gupta N, Kamalanathan S, Jagadeesh S, Ranade S, Lohiya N, Oke RL, Ganesan K, Khatod K, Agarwal M, Phadke N, Khadilkar A.
    Endocrine; 2021 Jan 15; 71(1):189-198. PubMed ID: 32948948
    [Abstract] [Full Text] [Related]

  • 39. 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]

  • 40. 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 15; 47(4):3049-3052. PubMed ID: 32185686
    [Abstract] [Full Text] [Related]

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