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207 related items for PubMed ID: 20331679

  • 1. Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.
    Kharrat M, Trabelsi S, Chaabouni M, Maazoul F, Kraoua L, Ben Jemaa L, Gandoura N, Barsaoui S, Morel Y, M'rad R, Chaabouni H.
    Clin Genet; 2010 Oct; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 2. Two novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11β hydroxylase deficiency in a Tunisian family.
    Ben Charfeddine I, Riepe FG, Kahloul N, Kulle AE, Adala L, Mamaï O, Amara A, Mili A, Amri F, Saad A, Holterhus PM, Gribaa M.
    Gen Comp Endocrinol; 2012 Feb 01; 175(3):514-8. PubMed ID: 22210247
    [Abstract] [Full Text] [Related]

  • 3. Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.
    Kuribayashi I, Nomoto S, Massa G, Oostdijk W, Wit JM, Wolffenbuttel BH, Shizuta Y, Honke K.
    Horm Res; 2005 Feb 01; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 4. Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency.
    Wang X, Nie M, Lu L, Tong A, Chen S, Lu Z.
    Steroids; 2015 Aug 01; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 5. Novel missense mutations, GCC [Ala306]- > GTC [Val] and ACG [Thr318]- > CCG [Pro], in the CYP11B1 gene cause steroid 11beta-hydroxylase deficiency in the Chinese.
    Lee HH, Won GS, Chao HT, Lee YJ, Chung BC.
    Clin Endocrinol (Oxf); 2005 Apr 01; 62(4):418-22. PubMed ID: 15807871
    [Abstract] [Full Text] [Related]

  • 6. A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency.
    Ye ZQ, Zhang MN, Zhang HJ, Jiang JJ, Li XY, Zhang KQ.
    Chin Med J (Engl); 2010 May 20; 123(10):1264-8. PubMed ID: 20529578
    [Abstract] [Full Text] [Related]

  • 7. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency--insights from two novel CYP11B1 mutations (p.M92X, p.R453Q).
    Krone N, Grötzinger J, Holterhus PM, Sippell WG, Schwarz HP, Riepe FG.
    Horm Res; 2009 May 20; 72(5):281-6. PubMed ID: 19844114
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.
    Nguyen HH, Eiden-Plach A, Hannemann F, Malunowicz EM, Hartmann MF, Wudy SA, Bernhardt R.
    J Steroid Biochem Mol Biol; 2016 Jan 20; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

  • 9. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 20; 20(3):249-54. PubMed ID: 12428205
    [Abstract] [Full Text] [Related]

  • 10. Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G.
    Endocr Res; 2000 Nov 20; 26(4):797-801. PubMed ID: 11196457
    [Abstract] [Full Text] [Related]

  • 11. Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.
    Kandemir N, Yilmaz DY, Gonc EN, Ozon A, Alikasifoglu A, Dursun A, Ozgul RK.
    J Steroid Biochem Mol Biol; 2017 Jan 20; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 12. Cosegregation of a novel homozygous CYP11B1 mutation with the phenotype of non-classical congenital adrenal hyperplasia in a consanguineous family.
    Peters CJ, Nugent T, Perry LA, Davies K, Morel Y, Drake WM, Savage MO, Johnston LB.
    Horm Res; 2007 Jan 20; 67(4):189-93. PubMed ID: 17124386
    [Abstract] [Full Text] [Related]

  • 13. A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
    Riedl S, Nguyen HH, Clausmeyer S, Schulze E, Waldhauser F, Bernhardt R.
    Horm Res; 2008 Jan 20; 70(3):145-9. PubMed ID: 18663314
    [Abstract] [Full Text] [Related]

  • 14. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.
    Charnwichai P, Yeetong P, Suphapeetiporn K, Supornsilchai V, Sahakitrungruang T, Shotelersuk V.
    BMC Endocr Disord; 2016 Jun 17; 16(1):37. PubMed ID: 27316665
    [Abstract] [Full Text] [Related]

  • 15. Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene.
    Simm PJ, Zacharin MR.
    Horm Res; 2007 Jun 17; 68(6):294-7. PubMed ID: 17726333
    [Abstract] [Full Text] [Related]

  • 16. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 17; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

  • 17. Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
    Cerame BI, Newfield RS, Pascoe L, Curnow KM, Nimkarn S, Roe TF, New MI, Wilson RC.
    J Clin Endocrinol Metab; 1999 Sep 17; 84(9):3129-34. PubMed ID: 10487675
    [Abstract] [Full Text] [Related]

  • 18. A novel nonsense mutation in the Cyp11B1 gene from a subject with the steroid 11beta-hydroxylase form of congenital adrenal hyperplasia.
    Kuribayashi I, Massa G, van den Tooren-de Groot HK, Oostdijk W, Wit JM, Shizuta Y.
    Endocr Res; 2003 Nov 17; 29(4):377-81. PubMed ID: 14682466
    [Abstract] [Full Text] [Related]

  • 19. The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency.
    Long Y, Han S, Zhang X, Zhang X, Chen T, Gao Y, Tian H.
    Endocr J; 2016 Nov 17; 63(3):301-10. PubMed ID: 26806323
    [Abstract] [Full Text] [Related]

  • 20. Mutations in CYP11B1 gene: phenotype-genotype correlations.
    Zhu YS, Cordero JJ, Can S, Cai LQ, You X, Herrera C, DeFillo-Ricart M, Shackleton C, Imperato-McGinley J.
    Am J Med Genet A; 2003 Oct 15; 122A(3):193-200. PubMed ID: 12966519
    [Abstract] [Full Text] [Related]

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