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Journal Abstract Search

261 related items for PubMed ID: 26806323

  • 1. 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; 63(3):301-10. PubMed ID: 26806323
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  • 2. 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; 155(Pt A):126-34. PubMed ID: 26476331
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  • 3. 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
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  • 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 Aug 30; 63(6):284-93. PubMed ID: 16024935
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  • 12. 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 Aug 30; 72(5):281-6. PubMed ID: 19844114
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  • 13. 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 30; 100():11-6. PubMed ID: 25911436
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  • 14. 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
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  • 15. 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; 30(4):285-91. PubMed ID: 17556864
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  • 16. 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
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  • 17. 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
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  • 18. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 07; 20(3):249-54. PubMed ID: 12428205
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  • 19. 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 07; 62(4):418-22. PubMed ID: 15807871
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  • 20. 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 07; 44(1):212-9. PubMed ID: 23345044
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