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Journal Abstract Search

233 related items for PubMed ID: 22014889

  • 1. 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; 61(4):519-24. PubMed ID: 22014889
    [Abstract] [Full Text] [Related]

  • 2. 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; 71(4):470-6. PubMed ID: 19170707
    [Abstract] [Full Text] [Related]

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

  • 4. Functional and structural analysis of four novel mutations of CYP21A2 gene in Italian patients with 21-hydroxylase deficiency.
    Massimi A, Malaponti M, Federici L, Vinciguerra D, Manca Bitti ML, Vottero A, Ghizzoni L, Maccarrone M, Cappa M, Bernardini S, Porzio O.
    Horm Metab Res; 2014 Jun; 46(7):515-20. PubMed ID: 24799024
    [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. CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian congenital adrenal hyperplasia (CAH) family.
    Concolino P, Mello E, Zuppi C, Toscano V, Capoluongo E.
    Diagn Mol Pathol; 2013 Mar 22; 22(1):48-51. PubMed ID: 23370425
    [Abstract] [Full Text] [Related]

  • 7. Two novel CYP21A2 missense mutations in Italian patients with 21-hydroxylase deficiency: Identification and functional characterisation.
    Concolino P, Vendittelli F, Mello E, Carelli Alinovi C, Minucci A, Carrozza C, Santini SA, Zuppi C, Capoluongo E.
    IUBMB Life; 2009 Mar 22; 61(3):229-35. PubMed ID: 19152428
    [Abstract] [Full Text] [Related]

  • 8. CYP21A2 intronic variants causing 21-hydroxylase deficiency.
    Concolino P, Rizza R, Costella A, Carrozza C, Zuppi C, Capoluongo E.
    Metabolism; 2017 Jun 22; 71():46-51. PubMed ID: 28521877
    [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. 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]

  • 11. 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]

  • 12. 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]

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

  • 14. 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]

  • 15. 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 09; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 16. 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 09; 11(7):e2195. PubMed ID: 37157918
    [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 09; 48(8):1057-62. PubMed ID: 20482300
    [Abstract] [Full Text] [Related]

  • 18. Functional characterization and molecular modeling of the mutations in CYP21A2 gene from patients with Congenital Adrenal Hyperplasia.
    Khajuria R, Walia R, Bhansali A, Prasad R.
    Biochimie; 2018 Jun 09; 149():115-121. PubMed ID: 29684512
    [Abstract] [Full Text] [Related]

  • 19. Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia.
    Karlsson L, de Paula Michelatto D, Lusa ALG, D'Almeida Mgnani Silva C, Östberg LJ, Persson B, Guerra-Júnior G, Valente de Lemos-Marini SH, Baldazzi L, Menabó S, Balsamo A, Greggio NA, Palandi de Mello M, Barbaro M, Lajic S.
    Clin Biochem; 2019 Nov 09; 73():50-56. PubMed ID: 31344365
    [Abstract] [Full Text] [Related]

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

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