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Journal Abstract Search

163 related items for PubMed ID: 22921894

  • 1. 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
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  • 2. 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 10; 101():51-5. PubMed ID: 26066897
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  • 8. 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
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  • 9. 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
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  • 10. 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 10; 86(7):3197-201. PubMed ID: 11443188
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  • 11. 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
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  • 12. 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
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  • 13. 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
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  • 14. 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 01; 29(4):377-81. PubMed ID: 14682466
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  • 15. 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
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  • 16. 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 01; 62(2):326-332. PubMed ID: 30242600
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  • 17. 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 Nov 01; 63(3):301-10. PubMed ID: 26806323
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  • 18. 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
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  • 19. 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
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