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Journal Abstract Search

180 related items for PubMed ID: 9836705

  • 1. Characterization of frequent polymorphisms in intron 2 of CYP21: application to analysis of segregation of CYP21 alleles.
    Killeen AA, Jiddou RR, Sane KS.
    Clin Chem; 1998 Dec; 44(12):2410-5. PubMed ID: 9836705
    [Abstract] [Full Text] [Related]

  • 2. Single-nucleotide polymorphisms in intron 2 of CYP21P: evidence for a higher rate of mutation at CpG dinucleotides in the functional steroid 21-hydroxylase gene and application to segregation analysis in congenital adrenal hyperplasia.
    Jiddou RR, Wei WL, Sane KS, Killeen AA.
    Clin Chem; 1999 May; 45(5):625-9. PubMed ID: 10222348
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. 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; 79(3):214-20. PubMed ID: 12855227
    [Abstract] [Full Text] [Related]

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

  • 6. 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]

  • 7. 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 Mar; 47(10):517-22. PubMed ID: 12376740
    [Abstract] [Full Text] [Related]

  • 8. 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]

  • 9. Analysis of Four Common Salt-Wasting Mutations in CYP21 (Steroid 21-Hydroxylase) by Cleavase Fragment Length Polymorphism Analysis and Characterization of a Frequent Polymorphism in Intron 6.
    Wei WL, Killeen AA.
    Mol Diagn; 1998 Sep 10; 3(3):171-177. PubMed ID: 10089275
    [Abstract] [Full Text] [Related]

  • 10. Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia.
    Lee YH, Park ES, Kang SH, Kim H, Lee JY, Lee JS.
    Clin Endocrinol (Oxf); 2000 Oct 10; 53(4):419-22. PubMed ID: 11012565
    [Abstract] [Full Text] [Related]

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

  • 12. Mutation-haplotype analysis of steroid 21-hydroxylase (CYP21) deficiency in Finland. Implications for the population history of defective alleles.
    Levo A, Partanen J.
    Hum Genet; 1997 Apr 10; 99(4):488-97. PubMed ID: 9099839
    [Abstract] [Full Text] [Related]

  • 13. 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 Apr 10; 63(3):119-24. PubMed ID: 15775714
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. [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]

  • 16. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Sep 10; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

  • 17. 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 10; 34(3):223-8. PubMed ID: 9132494
    [Abstract] [Full Text] [Related]

  • 18. 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]

  • 19. Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions.
    Mao R, Nelson L, Kates R, Miller CE, Donaldson DL, Tang W, Ward K.
    Prenat Diagn; 2002 Dec 10; 22(13):1171-6. PubMed ID: 12478627
    [Abstract] [Full Text] [Related]

  • 20. 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 Dec 10; 5(2):126-30. PubMed ID: 7749410
    [Abstract] [Full Text] [Related]

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