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190 related items for PubMed ID: 17556864

  • 1. Familial pericentric inversion chromosome 3 and R448C mutation of CYP11B1 gene in Turkish kindred with 11beta-hydroxylase deficiency.
    Cingöz S, Ozkan B, Döneray H, Sakizli M.
    J Endocrinol Invest; 2007 Apr; 30(4):285-91. PubMed ID: 17556864
    [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. 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 Feb 01; 63(3):301-10. PubMed ID: 26806323
    [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. 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 01; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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]

  • 8. 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]

  • 9. Mutations in CYP11B1 and congenital adrenal hyperplasia in Moroccan Jews.
    Paperna T, Gershoni-Baruch R, Badarneh K, Kasinetz L, Hochberg Z.
    J Clin Endocrinol Metab; 2005 Sep 30; 90(9):5463-5. PubMed ID: 16030166
    [Abstract] [Full Text] [Related]

  • 10. Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.
    Menabò S, Polat S, Baldazzi L, Kulle AE, Holterhus PM, Grötzinger J, Fanelli F, Balsamo A, Riepe FG.
    Eur J Hum Genet; 2014 May 30; 22(5):610-6. PubMed ID: 24022297
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
    Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F.
    J Steroid Biochem Mol Biol; 2018 Jul 30; 181():88-97. PubMed ID: 29626607
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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]

  • 15. Chimeric CYP11B2/CYP11B1 causing 11β-hydroxylase deficiency in Chinese patients with congenital adrenal hyperplasia.
    Xu L, Xia W, Wu X, Wang X, Zhao L, Nie M.
    Steroids; 2015 Sep 15; 101():51-5. PubMed ID: 26066897
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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 15; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 18. Detection of Small CYP11B1 Deletions and One Founder Chimeric CYP11B2/CYP11B1 Gene in 11β-Hydroxylase Deficiency.
    Xie H, Yin H, Ye X, Liu Y, Liu N, Zhang Y, Chen X, Chen X.
    Front Endocrinol (Lausanne); 2022 Oct 15; 13():882863. PubMed ID: 35685215
    [Abstract] [Full Text] [Related]

  • 19. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
    White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A.
    J Clin Invest; 1991 May 15; 87(5):1664-7. PubMed ID: 2022736
    [Abstract] [Full Text] [Related]

  • 20. Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
    Khattab A, Haider S, Kumar A, Dhawan S, Alam D, Romero R, Burns J, Li D, Estatico J, Rahi S, Fatima S, Alzahrani A, Hafez M, Musa N, Razzghy Azar M, Khaloul N, Gribaa M, Saad A, Charfeddine IB, Bilharinho de Mendonça B, Belgorosky A, Dumic K, Dumic M, Aisenberg J, Kandemir N, Alikasifoglu A, Ozon A, Gonc N, Cheng T, Kuhnle-Krahl U, Cappa M, Holterhus PM, Nour MA, Pacaud D, Holtzman A, Li S, Zaidi M, Yuen T, New MI.
    Proc Natl Acad Sci U S A; 2017 Mar 07; 114(10):E1933-E1940. PubMed ID: 28228528
    [Abstract] [Full Text] [Related]

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