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198 related items for PubMed ID: 11598371

  • 1. Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
    Loke KY, Lee YS, Lee WW, Poh LK.
    Horm Res; 2001; 55(4):179-84. PubMed ID: 11598371
    [Abstract] [Full Text] [Related]

  • 2. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 3. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
    Stikkelbroeck NM, Hoefsloot LH, de Wijs IJ, Otten BJ, Hermus AR, Sistermans EA.
    J Clin Endocrinol Metab; 2003 Aug; 88(8):3852-9. PubMed ID: 12915679
    [Abstract] [Full Text] [Related]

  • 4. Common CYP21 gene mutations in Czech patients and statistical analysis of worldwide mutation distribution.
    Kotaska K, Lisá L, Průsa R.
    Cent Eur J Public Health; 2003 Sep; 11(3):124-8. PubMed ID: 14514162
    [Abstract] [Full Text] [Related]

  • 5. Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
    Ferenczi A, Garami M, Kiss E, Pék M, Sasvári-Székely M, Barta C, Staub M, Sólyom J, Fekete G.
    J Clin Endocrinol Metab; 1999 Jul; 84(7):2369-72. PubMed ID: 10404805
    [Abstract] [Full Text] [Related]

  • 6. Characterisation of CAH alleles with non-radioactive DNA single strand conformation polymorphism analysis of the CYP21 gene.
    Bobba A, Iolascon A, Giannattasio S, Albrizio M, Sinisi A, Prisco F, Schettini F, Marra E.
    J Med Genet; 1997 Mar; 34(3):223-8. PubMed ID: 9132494
    [Abstract] [Full Text] [Related]

  • 7. 21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
    Jeske YW, McGown IN, Harris M, Bowling FG, Choong CS, Cowley DM, Cotterill AM.
    J Pediatr Endocrinol Metab; 2009 Feb; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 8. Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease.
    Dolzan V, Stopar-Obreza M, Zerjav-Tansek M, Breskvar K, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2003 Aug; 149(2):137-44. PubMed ID: 12887291
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase.
    Delague V, Souraty N, Khallouf E, Tardy V, Chouery E, Halaby G, Loiselet J, Morel Y, Mégarbané A.
    Horm Res; 2000 Oct; 53(2):77-82. PubMed ID: 10971093
    [Abstract] [Full Text] [Related]

  • 11. Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran.
    Vakili R, Baradaran-Heravi A, Barid-Fatehi B, Gholamin M, Ghaemi N, Abbaszadegan MR.
    Horm Res; 2005 Oct; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 12. Mutational spectrum of steroid 21-hydroxylase and the genotype-phenotype association in Middle European patients with congenital adrenal hyperplasia.
    Dolzan V, Sólyom J, Fekete G, Kovács J, Rakosnikova V, Votava F, Lebl J, Pribilincova Z, Baumgartner-Parzer SM, Riedl S, Waldhauser F, Frisch H, Stopar-Obreza M, Krzisnik C, Battelino T.
    Eur J Endocrinol; 2005 Jul; 153(1):99-106. PubMed ID: 15994751
    [Abstract] [Full Text] [Related]

  • 13. CYP21 mutations in Brazilian patients with 21-hydroxylase deficiency.
    Witchel SF, Smith R, Crivellaro CE, Della Manna T, Dichtchekenian V, Setian N, Damiani D.
    Hum Genet; 2000 Apr; 106(4):414-9. PubMed ID: 10830908
    [Abstract] [Full Text] [Related]

  • 14. Screening of CYP21 gene mutations in 129 French patients affected by steroid 21-hydroxylase deficiency.
    Barbat B, Bogyo A, Raux-Demay MC, Kuttenn F, Boué J, Simon-Bouy B, Serre JL, Mornet E.
    Hum Mutat; 1995 Apr; 5(2):126-30. PubMed ID: 7749410
    [Abstract] [Full Text] [Related]

  • 15. Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction.
    Owerbach D, Ballard AL, Draznin MB.
    J Clin Endocrinol Metab; 1992 Mar; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 16. Altered CYP21 genes in HLA-haplotypes associated with congenital adrenal hyperplasia (CAH): a family study.
    Manfras BJ, Swinyard M, Rudert WA, Ball EJ, Lee PA, Kühnl P, Trucco M, Böhm BO.
    Hum Genet; 1993 Aug; 92(1):33-9. PubMed ID: 8365724
    [Abstract] [Full Text] [Related]

  • 17. Three novel mutations in Japanese patients with 21-hydroxylase deficiency.
    Usui T, Nishisho K, Kaji M, Ikuno N, Yorifuji T, Yasuda T, Kuzuya H, Shimatsu A.
    Horm Res; 2004 Aug; 61(3):126-32. PubMed ID: 14676460
    [Abstract] [Full Text] [Related]

  • 18. A rational, non-radioactive strategy for the molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Coeli-Lacchini FB, Turatti W, Elias PC, Elias LL, Martinelli CE, Moreira AC, Antonini SR, de Castro M.
    Gene; 2013 Sep 10; 526(2):239-45. PubMed ID: 23570880
    [Abstract] [Full Text] [Related]

  • 19. Duplication of 111 bases in exon 1 of the CYP21 gene is combined with deletion of CYP21P-C4B genes in steroid 21-hydroxylase deficiency.
    Lee HH, Chang SF, Lo FS, Chao HT, Lin CY.
    Mol Genet Metab; 2003 Jul 10; 79(3):214-20. PubMed ID: 12855227
    [Abstract] [Full Text] [Related]

  • 20. Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.
    Lobato MN, Ordóñez-Sánchez ML, Tusié-Luna MT, Meseguer A.
    Hum Hered; 1999 Jun 10; 49(3):169-75. PubMed ID: 10364682
    [Abstract] [Full Text] [Related]

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