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Journal Abstract Search

232 related items for PubMed ID: 18661760

  • 1. Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Zhao LQ, Han S, Tian HM.
    World J Pediatr; 2008 May; 4(2):85-90. PubMed ID: 18661760
    [Abstract] [Full Text] [Related]

  • 2. 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; 22(5):610-6. PubMed ID: 24022297
    [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
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  • 4. 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]

  • 5. 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]

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

  • 7. 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]

  • 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. 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]

  • 10. Diagnosis, treatment and genetic analysis of 11β -hydroxylase deficiency caused by CYP11B gene mutation.
    Song QQ, Zhang SS, Zhang Z, Sun J, Yang R, Li JT, Chen H.
    Yi Chuan; 2022 Dec 20; 44(12):1175-1182. PubMed ID: 36927563
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  • 12. 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 20; 29(4):377-81. PubMed ID: 14682466
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  • 15. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
    Shammas C, Byrou S, Phelan MM, Toumba M, Stylianou C, Skordis N, Neocleous V, Phylactou LA.
    Hormones (Athens); 2016 Apr 20; 15(2):235-242. PubMed ID: 27376426
    [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 20; 100():11-6. PubMed ID: 25911436
    [Abstract] [Full Text] [Related]

  • 17. 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 20; 84(3):1193-1205. PubMed ID: 38411873
    [Abstract] [Full Text] [Related]

  • 18. 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 20; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 19. A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report.
    Yuan X, Lu L, Chen S, Jiang J, Wang X, Liu Z, Zhu H, Pan H, Lu Z.
    BMC Endocr Disord; 2018 Sep 21; 18(1):68. PubMed ID: 30241518
    [Abstract] [Full Text] [Related]

  • 20. 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]

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