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Journal Abstract Search

257 related items for PubMed ID: 19844114

  • 1. 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; 72(5):281-6. PubMed ID: 19844114
    [Abstract] [Full Text] [Related]

  • 2. 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; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 3. 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
    [Abstract] [Full Text] [Related]

  • 4. Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency.
    Krone N, Grischuk Y, Müller M, Volk RE, Grötzinger J, Holterhus PM, Sippell WG, Riepe FG.
    J Clin Endocrinol Metab; 2006 Jul; 91(7):2682-8. PubMed ID: 16670167
    [Abstract] [Full Text] [Related]

  • 5. Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
    Parajes S, Loidi L, Reisch N, Dhir V, Rose IT, Hampel R, Quinkler M, Conway GS, Castro-Feijóo L, Araujo-Vilar D, Pombo M, Dominguez F, Williams EL, Cole TR, Kirk JM, Kaminsky E, Rumsby G, Arlt W, Krone N.
    J Clin Endocrinol Metab; 2010 Feb; 95(2):779-88. PubMed ID: 20089618
    [Abstract] [Full Text] [Related]

  • 6. 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]

  • 7. 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 Aug 30; 63(3):301-10. PubMed ID: 26806323
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. 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]

  • 10. Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.
    Polat S, Kulle A, Karaca Z, Akkurt I, Kurtoglu S, Kelestimur F, Grötzinger J, Holterhus PM, Riepe FG.
    Eur J Endocrinol; 2014 May 01; 170(5):697-706. PubMed ID: 24536089
    [Abstract] [Full Text] [Related]

  • 11. A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.
    Riedl S, Nguyen HH, Clausmeyer S, Schulze E, Waldhauser F, Bernhardt R.
    Horm Res; 2008 May 01; 70(3):145-9. PubMed ID: 18663314
    [Abstract] [Full Text] [Related]

  • 12. 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 01; 62(4):418-22. PubMed ID: 15807871
    [Abstract] [Full Text] [Related]

  • 13. Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.
    Krone N, Riepe FG, Götze D, Korsch E, Rister M, Commentz J, Partsch CJ, Grötzinger J, Peter M, Sippell WG.
    J Clin Endocrinol Metab; 2005 Jun 01; 90(6):3724-30. PubMed ID: 15755848
    [Abstract] [Full Text] [Related]

  • 14. A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report.
    Duan L, Shen R, Song L, Liao Y, Zheng H.
    BMC Endocr Disord; 2018 Apr 27; 18(1):23. PubMed ID: 29703198
    [Abstract] [Full Text] [Related]

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  • 18. Novel mutations in CYP11B1 gene leading to 11 beta-hydroxylase deficiency in Brazilian patients.
    Soardi FC, Penachioni JY, Justo GZ, Bachega TA, Inácio M, Mendonça BB, de Castro M, de Mello MP.
    J Clin Endocrinol Metab; 2009 Sep 27; 94(9):3481-5. PubMed ID: 19567537
    [Abstract] [Full Text] [Related]

  • 19. 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 Sep 27; 67(4):189-93. PubMed ID: 17124386
    [Abstract] [Full Text] [Related]

  • 20. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 27; 20(3):249-54. PubMed ID: 12428205
    [Abstract] [Full Text] [Related]

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