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Journal Abstract Search

244 related items for PubMed ID: 15751602

  • 41. Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction.
    Owerbach D, Draznin MB, Carpenter RJ, Greenberg F.
    Hum Genet; 1992 Apr; 89(1):109-10. PubMed ID: 1349559
    [Abstract] [Full Text] [Related]

  • 42. [Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency].
    Dörr HG, Sippell WG, Willig RP.
    Geburtshilfe Frauenheilkd; 1992 Oct; 52(10):586-8. PubMed ID: 1294431
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  • 43.
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  • 44. [Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 9 treated pregnancies].
    Nivelon JL, Chouchane M, Forest MG, Morel Y, Huet F, Nivelon-Chevallier A, François C.
    Ann Pediatr (Paris); 1993 Sep; 40(7):421-5. PubMed ID: 7902059
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  • 46. Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene.
    Baş F, Toksoy G, Ergun-Longmire B, Uyguner ZO, Abalı ZY, Poyrazoğlu Ş, Karaman V, Avcı Ş, Altunoğlu U, Bundak R, Karaman B, Başaran S, Darendeliler F.
    J Steroid Biochem Mol Biol; 2018 Jul; 181():88-97. PubMed ID: 29626607
    [Abstract] [Full Text] [Related]

  • 47. 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; 22(5):610-6. PubMed ID: 24022297
    [Abstract] [Full Text] [Related]

  • 48. 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; 211():105882. PubMed ID: 33785438
    [Abstract] [Full Text] [Related]

  • 49. Prenatal treatment of congenital adrenal hyperplasia: report of a new case.
    Loeuille GA, David M, Forest MG.
    Eur J Pediatr; 1990 Jan; 149(4):237-40. PubMed ID: 2406146
    [Abstract] [Full Text] [Related]

  • 50. Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
    Mathur R, Kabra M.
    Indian J Pediatr; 2000 Nov; 67(11):813-8. PubMed ID: 11216381
    [Abstract] [Full Text] [Related]

  • 51. 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]

  • 52. Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
    Nimkarn S, New MI.
    Horm Res; 2007 Jan; 67(2):53-60. PubMed ID: 17047340
    [Abstract] [Full Text] [Related]

  • 53. 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; 83(1):270-3. PubMed ID: 9435454
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  • 54. Prenatal diagnosis/treatment in families at risk for infants with steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia).
    Karaviti LP, Mercado AB, Mercado MB, Speiser PW, Buegeleisen M, Crawford C, Antonian L, White PC, New MI.
    J Steroid Biochem Mol Biol; 1992 Mar; 41(3-8):445-51. PubMed ID: 1562517
    [Abstract] [Full Text] [Related]

  • 55. Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Zhao LQ, Han S, Tian HM.
    World J Pediatr; 2008 May; 4(2):85-90. PubMed ID: 18661760
    [Abstract] [Full Text] [Related]

  • 56. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.
    Grigorescu Sido A, Weber MM, Grigorescu Sido P, Clausmeyer S, Heinrich U, Schulze E.
    J Clin Endocrinol Metab; 2005 Oct; 90(10):5769-73. PubMed ID: 16046588
    [Abstract] [Full Text] [Related]

  • 57. Prenatal diagnosis and treatment of congenital adrenal hyperplasia.
    Levine LS, Pang S.
    J Pediatr Endocrinol; 1994 Oct; 7(3):193-200. PubMed ID: 7820212
    [Abstract] [Full Text] [Related]

  • 58. 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]

  • 59. Non-classical 11β-hydroxylase deficiency caused by a novel heterozygous mutation: a case report and review of the literature.
    Tang S, Xu W, Xuan M, Liu Q, Li Y, Kong D, Yang H, Liu Y, Xue Y.
    Endocrine; 2024 Jun 15; 84(3):1193-1205. PubMed ID: 38411873
    [Abstract] [Full Text] [Related]

  • 60. Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: implication for a rare etiology of an autosomal recessive disorder.
    Matsubara K, Kataoka N, Ogita S, Sano S, Ogata T, Fukami M, Katsumata N.
    Endocr J; 2014 Jun 15; 61(6):629-33. PubMed ID: 24621779
    [Abstract] [Full Text] [Related]

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