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Journal Abstract Search

221 related items for PubMed ID: 9132494

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

  • 5. Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
    Zeng X, Witchel SF, Dobrowolski SF, Moulder PV, Jarvik JW, Telmer CA.
    Mol Genet Metab; 2004 May 10; 82(1):38-47. PubMed ID: 15110320
    [Abstract] [Full Text] [Related]

  • 6. 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 10; 92(1):33-9. PubMed ID: 8365724
    [Abstract] [Full Text] [Related]

  • 7. 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 10; 106(4):414-9. PubMed ID: 10830908
    [Abstract] [Full Text] [Related]

  • 8. CYP21 mutations and congenital adrenal hyperplasia.
    Lee HH.
    Clin Genet; 2001 May 10; 59(5):293-301. PubMed ID: 11359457
    [Abstract] [Full Text] [Related]

  • 9. [CYP21 gene point mutations study in 21-hydroxylase deficiency patients].
    Liao XY, Zhang YF, Gu XF.
    Zhonghua Er Ke Za Zhi; 2003 Sep 10; 41(9):670-4. PubMed ID: 14733808
    [Abstract] [Full Text] [Related]

  • 10. 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 10; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 11. Identification of four novel mutations in the CYP21 gene in congenital adrenal hyperplasia in the Chinese.
    Lee HH, Chao HT, Lee YJ, Shu SG, Chao MC, Kuo JM, Chung BC.
    Hum Genet; 1998 Sep 10; 103(3):304-10. PubMed ID: 9799085
    [Abstract] [Full Text] [Related]

  • 12. 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 10; 22(2):127-41. PubMed ID: 19449670
    [Abstract] [Full Text] [Related]

  • 13. 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 10; 88(8):3852-9. PubMed ID: 12915679
    [Abstract] [Full Text] [Related]

  • 14. A novel frameshift mutation (141delT) in exon 1 of the 21-hydroxylase gene (CYP21) in a patient with the salt wasting form of congenital adrenal hyperplasia. Mutation in brief no. 255. Online.
    Krone N, Braun A, Roscher AA, Schwarz HP.
    Hum Mutat; 1999 Aug 10; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 15. Structural analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
    Lee HH, Niu DM, Lin RW, Chan P, Lin CY.
    J Hum Genet; 2002 Aug 10; 47(10):517-22. PubMed ID: 12376740
    [Abstract] [Full Text] [Related]

  • 16. Direct molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia.
    Lee HH, Chao HT, Ng HT, Choo KB.
    J Med Genet; 1996 May 10; 33(5):371-5. PubMed ID: 8733045
    [Abstract] [Full Text] [Related]

  • 17. Molecular analysis of CYP-21 mutations for congenital adrenal hyperplasia in Singapore.
    Loke KY, Lee YS, Lee WW, Poh LK.
    Horm Res; 2001 May 10; 55(4):179-84. PubMed ID: 11598371
    [Abstract] [Full Text] [Related]

  • 18. Molecular identification of combined homozygous and compound heterozygous mutations in the CYP21 gene in simple virilizing congenital adrenal hyperplasia in Taiwan.
    Wang HH, Lee HH, Wu DA, Lee YJ, Chung BC, Wang TR.
    Acta Paediatr Taiwan; 2003 May 10; 44(6):339-42. PubMed ID: 14983655
    [Abstract] [Full Text] [Related]

  • 19. 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]

  • 20. 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 Jun 10; 53(2):77-82. PubMed ID: 10971093
    [Abstract] [Full Text] [Related]

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