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202 related items for PubMed ID: 20529578

  • 1. 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]

  • 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. 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]

  • 4. 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 Apr 01; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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 01; 84(9):3129-34. PubMed ID: 10487675
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 8. [Clinical and genetic analysis of 11β-hydroxylase deficiency].
    Sun SY, Zhang MN, Yang J, Zhang HJ, Liu JM, Hong J, Ning G, Li XY.
    Zhonghua Yi Xue Za Zhi; 2011 Nov 15; 91(42):2999-3002. PubMed ID: 22333028
    [Abstract] [Full Text] [Related]

  • 9. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 15; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

  • 11. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 15; 20(3):249-54. PubMed ID: 12428205
    [Abstract] [Full Text] [Related]

  • 12. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
    Tang S, Xu W, Xuan M, Liu Q, Li Y, Kong D, Yang H, Liu Y, Xue Y.
    Endocrine; 2024 Jun 15; 84(3):1193-1205. PubMed ID: 38411873
    [Abstract] [Full Text] [Related]

  • 13. 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 Jun 15; 67(4):189-93. PubMed ID: 17124386
    [Abstract] [Full Text] [Related]

  • 14. Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants.
    Sun B, Lu L, Xie S, Zhang W, Zhang X, Tong A, Chen S, Wu X, Mao J, Wang X, Qiu L, Nie M.
    FASEB J; 2023 Apr 15; 37(4):e22869. PubMed ID: 36929050
    [Abstract] [Full Text] [Related]

  • 15. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations.
    Gu C, Tan H, Yang J, Lu Y, Ma Y.
    Gene; 2017 Aug 30; 626():89-94. PubMed ID: 28514642
    [Abstract] [Full Text] [Related]

  • 16. Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
    Wu C, Zhou Q, Wan L, Ni L, Zheng C, Qian Y, Jin J.
    Fertil Steril; 2011 Mar 01; 95(3):1122.e3-6. PubMed ID: 20947076
    [Abstract] [Full Text] [Related]

  • 17. A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.
    Zhang M, Liu Y, Sun S, Zhang H, Wang W, Ning G, Li X.
    J Steroid Biochem Mol Biol; 2013 Jan 01; 133():25-9. PubMed ID: 22964742
    [Abstract] [Full Text] [Related]

  • 18. 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 01; 70(3):145-9. PubMed ID: 18663314
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient.
    Li J, Zhang F, Xu M, Qiu H, Zhou C, Li L, Qin L.
    Front Endocrinol (Lausanne); 2023 Jun 17; 14():1216767. PubMed ID: 38027139
    [Abstract] [Full Text] [Related]

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