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Journal Abstract Search

159 related items for PubMed ID: 12966519

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. 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]

  • 6. Novel CYP11B1 mutations in congenital adrenal hyperplasia due to steroid 11 beta-hydroxylase deficiency.
    Merke DP, Tajima T, Chhabra A, Barnes K, Mancilla E, Baron J, Cutler GB.
    J Clin Endocrinol Metab; 1998 Jan 01; 83(1):270-3. PubMed ID: 9435454
    [Abstract] [Full Text] [Related]

  • 7. 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 01; 30(4):285-91. PubMed ID: 17556864
    [Abstract] [Full Text] [Related]

  • 8. Novel homozygous p.Y395X mutation in the CYP11B1 gene found in a Vietnamese patient with 11β-hydroxylase deficiency.
    Nguyen HH, Nguyen TH, Vu CD, Nguyen KT, Le BV, Nguyen TL, Nong VH.
    Gene; 2012 Nov 10; 509(2):295-7. PubMed ID: 22921894
    [Abstract] [Full Text] [Related]

  • 9. Compound heterozygosity of a novel Q73X mutation and a known R141X mutation in CYP11B1 resulting in 11β-hydroxylase deficiency in a Chinese boy with congenital adrenal hyperplasia.
    Wei C, Zhang Z, Sang M, Dai H, Yang T, Sun M.
    J Steroid Biochem Mol Biol; 2021 Jul 10; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 11. Insights on the phenotypic heterogenity of 11β-hydroxylase deficiency: clinical and genetic studies in two novel families.
    Valadares LP, Pfeilsticker ACV, de Brito Sousa SM, Cardoso SC, de Moraes OL, Gonçalves de Castro LC, de Oliveira RS, Lofrano-Porto A.
    Endocrine; 2018 Nov 10; 62(2):326-332. PubMed ID: 30242600
    [Abstract] [Full Text] [Related]

  • 12. Two novel mutations in CYP11B1 and modeling the consequent alterations of the translated protein in classic congenital adrenal hyperplasia patients.
    Abbaszadegan MR, Hassani S, Vakili R, Saberi MR, Baradaran-Heravi A, A'rabi A, Hashemipour M, Razzaghi-Azar M, Moaven O, Baratian A, Ahadian M, Keify F, Meurice N.
    Endocrine; 2013 Aug 10; 44(1):212-9. PubMed ID: 23345044
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 181():88-97. PubMed ID: 29626607
    [Abstract] [Full Text] [Related]

  • 14. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr 10; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

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

  • 16. 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 10; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 17. 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 Aug 10; 67(4):189-93. PubMed ID: 17124386
    [Abstract] [Full Text] [Related]

  • 18. 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 10; 22(5):610-6. PubMed ID: 24022297
    [Abstract] [Full Text] [Related]

  • 19. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
    Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC.
    Hum Mol Genet; 1997 Oct 10; 6(11):1829-34. PubMed ID: 9302260
    [Abstract] [Full Text] [Related]

  • 20. 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 Oct 10; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

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