These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

199 related items for PubMed ID: 19778530

  • 1. 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]

  • 2. 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]

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

  • 4. 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 Oct 09; 54(2):112-7. PubMed ID: 20970527
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 10; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 7. 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]

  • 8. 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]

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

  • 10. 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]

  • 11. 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]

  • 12. 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 01; 58(2):421-30. PubMed ID: 22156666
    [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. 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 15; 57(3):511-7. PubMed ID: 21148302
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 71(4):470-6. PubMed ID: 19170707
    [Abstract] [Full Text] [Related]

  • 17. 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 15; 48(8):1057-62. PubMed ID: 20482300
    [Abstract] [Full Text] [Related]

  • 18. Three novel CYP21A2 mutations and their protein modelling in patients with classical 21-hydroxylase deficiency from northeastern Iran.
    Baradaran-Heravi A, Vakili R, Robins T, Carlsson J, Ghaemi N, A'rabi A, Abbaszadegan MR.
    Clin Endocrinol (Oxf); 2007 Sep 15; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 19. Molecular genetic study of congenital adrenal hyperplasia in Serbia: novel p.Leu129Pro and p.Ser165Pro CYP21A2 gene mutations.
    Milacic I, Barac M, Milenkovic T, Ugrin M, Klaassen K, Skakic A, Jesic M, Joksic I, Mitrovic K, Todorovic S, Vujovic S, Pavlovic S, Stojiljkovic M.
    J Endocrinol Invest; 2015 Nov 15; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 20. 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]

    Page: [Next] [New Search]
    of 10.