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Journal Abstract Search

189 related items for PubMed ID: 11196457

  • 1. Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Chabre O, Portrat-Doyen S, Vivier J, Morel Y, Defaye G.
    Endocr Res; 2000 Nov; 26(4):797-801. PubMed ID: 11196457
    [Abstract] [Full Text] [Related]

  • 2. Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1.
    Chabre O, Portrat-Doyen S, Chaffanjon P, Vivier J, Liakos P, Labat-Moleur F, Chambaz E, Morel Y, Defaye G.
    J Clin Endocrinol Metab; 2000 Nov; 85(11):4060-8. PubMed ID: 11095433
    [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. Steroid 11beta- hydroxylase deficiency congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Trends Endocrinol Metab; 2008 Apr; 19(3):96-9. PubMed ID: 18294861
    [Abstract] [Full Text] [Related]

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

  • 6. 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; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 7. 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 Oct; 70(3):145-9. PubMed ID: 18663314
    [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. 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 Feb 01; 63(6):284-93. PubMed ID: 16024935
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. 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 17; 62(4):418-22. PubMed ID: 15807871
    [Abstract] [Full Text] [Related]

  • 12. 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 17; 86(7):3197-201. PubMed ID: 11443188
    [Abstract] [Full Text] [Related]

  • 13. 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 Jul 17; 63(3):301-10. PubMed ID: 26806323
    [Abstract] [Full Text] [Related]

  • 14. 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 17; 91(7):2682-8. PubMed ID: 16670167
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. Neonatal salt-wasting and 11 beta-hydroxylase deficiency in a child carrying a homozygous deletion hybrid CYP11B2 (aldosterone synthase)-CYP11B1 (11 beta-hydroxylase).
    Ezquieta B, Luzuriaga C.
    Clin Genet; 2004 Sep 30; 66(3):229-35. PubMed ID: 15324322
    [Abstract] [Full Text] [Related]

  • 17. 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 Sep 30; 72(5):281-6. PubMed ID: 19844114
    [Abstract] [Full Text] [Related]

  • 18. Molecular biology of 11β-hydroxylase and 11β-hydroxysteroid dehydrogenase enzymes.
    White PC, Pascoe L, Curnow KM, Tannin G, Rösler A.
    J Steroid Biochem Mol Biol; 1992 Dec 30; 43(8):827-35. PubMed ID: 22217826
    [Abstract] [Full Text] [Related]

  • 19. 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 30; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 20. 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 30; 94(9):3481-5. PubMed ID: 19567537
    [Abstract] [Full Text] [Related]

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