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244 related items for PubMed ID: 15751602

  • 1. Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.
    Motaghedi R, Betensky BP, Slowinska B, Cerame B, Cabrer M, New MI, Wilson RC.
    J Pediatr Endocrinol Metab; 2005 Feb; 18(2):133-42. PubMed ID: 15751602
    [Abstract] [Full Text] [Related]

  • 2. Prenatal diagnosis and treatment of 11beta-hydroxylase deficiency congenital adrenal hyperplasia resulting in normal female genitalia.
    Cerame BI, Newfield RS, Pascoe L, Curnow KM, Nimkarn S, Roe TF, New MI, Wilson RC.
    J Clin Endocrinol Metab; 1999 Sep; 84(9):3129-34. PubMed ID: 10487675
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
    Carlson AD, Obeid JS, Kanellopoulou N, Wilson RC, New MI.
    J Steroid Biochem Mol Biol; 1999 Feb 01; 69(1-6):19-29. PubMed ID: 10418977
    [Abstract] [Full Text] [Related]

  • 5. A novel missense mutation, GGC(Arg454) --> TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11beta-hydroxylase deficiency.
    Ye ZQ, Zhang MN, Zhang HJ, Jiang JJ, Li XY, Zhang KQ.
    Chin Med J (Engl); 2010 May 20; 123(10):1264-8. PubMed ID: 20529578
    [Abstract] [Full Text] [Related]

  • 6. Prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies.
    New MI, Carlson A, Obeid J, Marshall I, Cabrera MS, Goseco A, Lin-Su K, Putnam AS, Wei JQ, Wilson RC.
    J Clin Endocrinol Metab; 2001 Dec 20; 86(12):5651-7. PubMed ID: 11739415
    [Abstract] [Full Text] [Related]

  • 7. Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia.
    Dumic M, Brkljacic L, Plavsic V, Zunec R, Ille J, Wilson RC, Kuvacic I, Kastelan A, New MI.
    Am J Med Genet; 1997 Oct 31; 72(3):302-6. PubMed ID: 9332659
    [Abstract] [Full Text] [Related]

  • 8. First trimester prenatal treatment and molecular genetic diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency).
    Speiser PW, Laforgia N, Kato K, Pareira J, Khan R, Yang SY, Whorwood C, White PC, Elias S, Schriock E.
    J Clin Endocrinol Metab; 1990 Apr 31; 70(4):838-48. PubMed ID: 1969421
    [Abstract] [Full Text] [Related]

  • 9. Congenital adrenal hyperplasia: 11beta-hydroxylase deficiency.
    Peter M.
    Semin Reprod Med; 2002 Aug 31; 20(3):249-54. PubMed ID: 12428205
    [Abstract] [Full Text] [Related]

  • 10. 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 31; 78(4):398-401. PubMed ID: 20331679
    [Abstract] [Full Text] [Related]

  • 11. [21 hydroxylase deficiency: new strategies emerging from molecular studies].
    Morel Y, Tardy V, Costa JM, Forest MG, David M.
    Ann Endocrinol (Paris); 2003 Dec 31; 64(6):456-70. PubMed ID: 15067252
    [No Abstract] [Full Text] [Related]

  • 12. 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 31; 165(Pt A):57-63. PubMed ID: 26956189
    [Abstract] [Full Text] [Related]

  • 13. Prenatal diagnosis and treatment of adrenogenital syndrome (steroid 21-hydroxylase deficiency).
    New MI.
    Dev Pharmacol Ther; 1990 Jan 31; 15(3-4):200-10. PubMed ID: 2099900
    [Abstract] [Full Text] [Related]

  • 14. Successful antenatal treatment of an affected congenital adrenal hyperplasia pregnancy using linkage analysis.
    Day DJ, Fitness JE, Milsom S.
    Aust N Z J Obstet Gynaecol; 2004 Aug 31; 44(4):369-71. PubMed ID: 15282019
    [No Abstract] [Full Text] [Related]

  • 15. [Prenatal molecular genetic diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency].
    Rodríguez A, Ezquieta B, Varela JM, Moreno M, Dulín E, Rodríguez Arnao MD.
    Med Clin (Barc); 1997 Nov 15; 109(17):669-72. PubMed ID: 9488957
    [Abstract] [Full Text] [Related]

  • 16. [Prenatal diagnosis and treatment of adrenogenital syndrome. Prevent virilization of female fetuses].
    Lajic S, Bui TH, Holst M, Ritzén M, Wedell A.
    Lakartidningen; 1997 Dec 10; 94(50):4781-6. PubMed ID: 9445959
    [Abstract] [Full Text] [Related]

  • 17. Prenatal treatment and diagnosis of congenital adrenal hyperplasia owing to steroid 21-hydroxylase deficiency.
    Mercado AB, Wilson RC, Cheng KC, Wei JQ, New MI.
    J Clin Endocrinol Metab; 1995 Jul 10; 80(7):2014-20. PubMed ID: 7608248
    [Abstract] [Full Text] [Related]

  • 18. Congenital adrenal hyperplasia due to 21-hydroxylase deficiency: A paradigm for prenatal diagnosis and treatment.
    Nimkarn S, New MI.
    Ann N Y Acad Sci; 2010 Mar 10; 1192():5-11. PubMed ID: 20392211
    [Abstract] [Full Text] [Related]

  • 19. Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
    Rumsby G, Honour JW, Rodeck C.
    Clin Endocrinol (Oxf); 1993 Apr 10; 38(4):421-5. PubMed ID: 8319374
    [Abstract] [Full Text] [Related]

  • 20. 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]

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