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Journal Abstract Search

260 related items for PubMed ID: 8506298

  • 1. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.
    Curnow KM, Slutsker L, Vitek J, Cole T, Speiser PW, New MI, White PC, Pascoe L.
    Proc Natl Acad Sci U S A; 1993 May 15; 90(10):4552-6. PubMed ID: 8506298
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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]

  • 4. 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
    [Abstract] [Full Text] [Related]

  • 5. 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]

  • 6. 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]

  • 7. 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]

  • 8. 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 01; 91(7):2682-8. PubMed ID: 16670167
    [Abstract] [Full Text] [Related]

  • 9. A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.
    White PC, Dupont J, New MI, Leiberman E, Hochberg Z, Rösler A.
    J Clin Invest; 1991 May 01; 87(5):1664-7. PubMed ID: 2022736
    [Abstract] [Full Text] [Related]

  • 10. 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 01; 101():51-5. PubMed ID: 26066897
    [Abstract] [Full Text] [Related]

  • 11. CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
    Joehrer K, Geley S, Strasser-Wozak EM, Azziz R, Wollmann HA, Schmitt K, Kofler R, White PC.
    Hum Mol Genet; 1997 Oct 01; 6(11):1829-34. PubMed ID: 9302260
    [Abstract] [Full Text] [Related]

  • 12. 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
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. Missense mutation in CYP11B1 (CGA[Arg-384]-->GGA[Gly]) causes steroid 11 beta-hydroxylase deficiency.
    Nakagawa Y, Yamada M, Ogawa H, Igarashi Y.
    Eur J Endocrinol; 1995 Mar 30; 132(3):286-9. PubMed ID: 7889175
    [Abstract] [Full Text] [Related]

  • 15. 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
    [Abstract] [Full Text] [Related]

  • 16. CYP11B1 mutations causing congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency.
    Geley S, Kapelari K, Jöhrer K, Peter M, Glatzl J, Vierhapper H, Schwarz S, Helmberg A, Sippell WG, White PC, Kofler R.
    J Clin Endocrinol Metab; 1996 Aug 30; 81(8):2896-901. PubMed ID: 8768848
    [Abstract] [Full Text] [Related]

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

  • 18. 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]

  • 19. A high rate of novel CYP11B1 mutations in Saudi Arabia.
    Alzahrani AS, Alswailem MM, Murugan AK, Alhomaidah DS, Capper CP, Auchus RJ, Qasem E, Alzahrani OS, Al-Sagheir A, Bin-Abbas B.
    J Steroid Biochem Mol Biol; 2017 Nov 30; 174():217-224. PubMed ID: 28962970
    [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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