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173 related items for PubMed ID: 11012565

  • 1. 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; 53(4):419-22. PubMed ID: 11012565
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 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. 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]

  • 5. 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]

  • 6. [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]

  • 7. 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]

  • 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. Defective, deleted or converted CYP21B gene and negative association with a rare restriction fragment length polymorphism allele of the factor B gene in congenital adrenal hyperplasia.
    Ghanem N, Lobaccaro JM, Buresi C, Abbal M, Halaby G, Sultan C, Lefranc G.
    Hum Genet; 1990 Dec 10; 86(2):117-25. PubMed ID: 1979956
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. The implication of de novo 21-hydroxylase mutation in clinical and prenatal molecular diagnoses.
    Mao R, McDonald J, Cantwell M, Tang W, Ward K.
    Genet Test; 2005 Mar 10; 9(2):121-5. PubMed ID: 15943551
    [Abstract] [Full Text] [Related]

  • 12. 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]

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

  • 14. 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 10; 153(1):99-106. PubMed ID: 15994751
    [Abstract] [Full Text] [Related]

  • 15. Linkage between I172N mutation, a marker of 21-hydroxylase deficiency, and a single nucleotide polymorphism in Int6 of CYP21B gene: a genetic study of Sardinian family.
    Concolino P, Satta MA, Santonocito C, Carrozza C, Rocchetti S, Ameglio F, Giardina E, Zuppi C, Capoluongo E.
    Clin Chim Acta; 2006 Feb 10; 364(1-2):298-302. PubMed ID: 16171792
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. 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]

  • 18. Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees.
    Day DJ, Speiser PW, Schulze E, Bettendorf M, Fitness J, Barany F, White PC.
    Hum Mol Genet; 1996 Dec 10; 5(12):2039-48. PubMed ID: 8968761
    [Abstract] [Full Text] [Related]

  • 19. 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 Dec 10; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 20. Major-histocompatibility-complex gene markers and restriction-fragment analysis of steroid 21-hydroxylase (CYP21) and complement C4 genes in classical congenital adrenal hyperplasia patients in a single population.
    Partanen J, Koskimies S, Sipilä I, Lipsanen V.
    Am J Hum Genet; 1989 May 10; 44(5):660-70. PubMed ID: 2565078
    [Abstract] [Full Text] [Related]

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