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Journal Abstract Search

202 related items for PubMed ID: 24799024

  • 1. 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]

  • 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. 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]

  • 4. 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; 149():115-121. PubMed ID: 29684512
    [Abstract] [Full Text] [Related]

  • 5. 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; 67(3):335-41. PubMed ID: 17573904
    [Abstract] [Full Text] [Related]

  • 6. Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
    Grischuk Y, Rubtsov P, Riepe FG, Grötzinger J, Beljelarskaia S, Prassolov V, Kalintchenko N, Semitcheva T, Peterkova V, Tiulpakov A, Sippell WG, Krone N.
    J Clin Endocrinol Metab; 2006 Dec; 91(12):4976-80. PubMed ID: 16984992
    [Abstract] [Full Text] [Related]

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

  • 8. 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]

  • 9. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier.
    Tardy V, Menassa R, Sulmont V, Lienhardt-Roussie A, Lecointre C, Brauner R, David M, Morel Y.
    J Clin Endocrinol Metab; 2010 Mar 10; 95(3):1288-300. PubMed ID: 20080860
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 38(11):1199-210. PubMed ID: 26233337
    [Abstract] [Full Text] [Related]

  • 11. 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 10; 22(1):48-51. PubMed ID: 23370425
    [Abstract] [Full Text] [Related]

  • 12. Molecular genetic analysis in 93 patients and 193 family members with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia.
    Dumic KK, Grubic Z, Yuen T, Wilson RC, Kusec V, Barisic I, Stingl K, Sansovic I, Skrabic V, Dumic M, New MI.
    J Steroid Biochem Mol Biol; 2017 Jan 10; 165(Pt A):51-56. PubMed ID: 27041116
    [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. 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 15; 26(4):595-603. PubMed ID: 20818501
    [Abstract] [Full Text] [Related]

  • 15. A rare CYP21A2 mutation in a congenital adrenal hyperplasia kindred displaying genotype-phenotype nonconcordance.
    Khattab A, Yuen T, Al-Malki S, Yau M, Kazmi D, Sun L, Harbison M, Haider S, Zaidi M, New MI.
    Ann N Y Acad Sci; 2016 Jan 15; 1364(1):5-10. PubMed ID: 26291314
    [Abstract] [Full Text] [Related]

  • 16. 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 15; 120(1):23-7. PubMed ID: 22020670
    [Abstract] [Full Text] [Related]

  • 17. Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia.
    Gaffney D, Howie AF, Bakkush AM, Hoffmann TM, Mason JI, Wallace AM, Donaldson MD.
    J Steroid Biochem Mol Biol; 2011 Feb 15; 123(3-5):109-14. PubMed ID: 21134444
    [Abstract] [Full Text] [Related]

  • 18. In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia.
    Barbaro M, Soardi FC, Östberg LJ, Persson B, de Mello MP, Wedell A, Lajic S.
    Clin Endocrinol (Oxf); 2015 Jan 15; 82(1):37-44. PubMed ID: 24953648
    [Abstract] [Full Text] [Related]

  • 19. Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.
    Concolino P, Costella A.
    Mol Diagn Ther; 2018 Jun 15; 22(3):261-280. PubMed ID: 29450859
    [Abstract] [Full Text] [Related]

  • 20. 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]

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