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Journal Abstract Search

191 related items for PubMed ID: 22333028

  • 1. [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]

  • 2. 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]

  • 3. 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]

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

  • 5. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 01; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

  • 6. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 01; 20(3):249-54. PubMed ID: 12428205
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 155(Pt A):126-34. PubMed ID: 26476331
    [Abstract] [Full Text] [Related]

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  • 9. 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]

  • 10. 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 Apr 01; 72(5):281-6. PubMed ID: 19844114
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  • 12. Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.
    Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G.
    J Clin Endocrinol Metab; 2000 Nov 01; 85(11):4060-8. PubMed ID: 11095433
    [Abstract] [Full Text] [Related]

  • 13. 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 01; 26(4):797-801. PubMed ID: 11196457
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. 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 30; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 16. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
    Ezquieta B, Luzuriaga C.
    Clin Genet; 2004 Sep 30; 66(3):229-35. PubMed ID: 15324322
    [Abstract] [Full Text] [Related]

  • 17. Steroid 11-beta hydroxylase deficiency caused by compound heterozygosity for a novel mutation in intron 7 (IVS 7 DS+4A to G) in one CYP11B1 allele and R448H in exon 8 in the other.
    Dumic K, Wilson R, Thanasawat P, Grubic Z, Kusec V, Stingl K, New MI.
    Eur J Pediatr; 2010 Jul 30; 169(7):891-4. PubMed ID: 20024693
    [Abstract] [Full Text] [Related]

  • 18. Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia.
    Portrat S, Mulatero P, Curnow KM, Chaussain JL, Morel Y, Pascoe L.
    J Clin Endocrinol Metab; 2001 Jul 30; 86(7):3197-201. PubMed ID: 11443188
    [Abstract] [Full Text] [Related]

  • 19. 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 30; 133():25-9. PubMed ID: 22964742
    [Abstract] [Full Text] [Related]

  • 20. 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 30; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

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