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170 related items for PubMed ID: 11093272

  • 1. CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands.
    Koppens PF, Hoogenboezem T, Degenhart HJ.
    Eur J Hum Genet; 2000 Nov; 8(11):827-36. PubMed ID: 11093272
    [Abstract] [Full Text] [Related]

  • 2. Family studies of the steroid 21-hydroxylase and complement C4 genes define 11 haplotypes in classical congenital adrenal hyperplasia in The Netherlands.
    Koppens PF, Hoogenboezem T, Halley DJ, Barendse CA, Oostenbrink AJ, Degenhart HJ.
    Eur J Pediatr; 1992 Dec; 151(12):885-92. PubMed ID: 1473541
    [Abstract] [Full Text] [Related]

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

  • 4. Gene conversions and unequal crossovers between CYP21 (steroid 21-hydroxylase gene) and CYP21P involve different mechanisms.
    Tusié-Luna MT, White PC.
    Proc Natl Acad Sci U S A; 1995 Nov 07; 92(23):10796-800. PubMed ID: 7479886
    [Abstract] [Full Text] [Related]

  • 5. Chimeric CYP21P/CYP21 and TNXA/TNXB genes in the RCCX module.
    Lee HH.
    Mol Genet Metab; 2005 Jan 07; 84(1):4-8. PubMed ID: 15639189
    [Abstract] [Full Text] [Related]

  • 6. 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 07; 45(5):625-9. PubMed ID: 10222348
    [Abstract] [Full Text] [Related]

  • 7. The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency.
    Lee HH.
    J Hum Genet; 2004 May 07; 49(2):65-72. PubMed ID: 14730433
    [Abstract] [Full Text] [Related]

  • 8. Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency.
    Lee HH, Chang SF, Tsai FJ, Tsai LP, Lin CY.
    J Clin Endocrinol Metab; 2003 Jun 07; 88(6):2726-9. PubMed ID: 12788880
    [Abstract] [Full Text] [Related]

  • 9. Diversity of the CYP21P-like gene in CYP21 deficiency.
    Lee HH.
    DNA Cell Biol; 2005 Jan 07; 24(1):1-9. PubMed ID: 15684714
    [Abstract] [Full Text] [Related]

  • 10. Mutations in steroid 21-hydroxylase (CYP21).
    White PC, Tusie-Luna MT, New MI, Speiser PW.
    Hum Mutat; 1994 Jan 07; 3(4):373-8. PubMed ID: 8081391
    [Abstract] [Full Text] [Related]

  • 11. 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 07; 99(4):488-97. PubMed ID: 9099839
    [Abstract] [Full Text] [Related]

  • 12. Organization of C4 and CYP21 loci in gorilla and orangutan.
    Kawaguchi H, Klein J.
    Hum Immunol; 1992 Mar 07; 33(3):153-62. PubMed ID: 1618655
    [Abstract] [Full Text] [Related]

  • 13. Pulsed field gel electrophoresis identifies a high degree of variability in the number of tandem 21-hydroxylase and complement C4 gene repeats in 21-hydroxylase deficiency haplotypes.
    Collier S, Sinnott PJ, Dyer PA, Price DA, Harris R, Strachan T.
    EMBO J; 1989 May 07; 8(5):1393-402. PubMed ID: 2788573
    [Abstract] [Full Text] [Related]

  • 14. Analysis of the chimeric CYP21P/CYP21 gene in steroid 21-hydroxylase deficiency.
    Lee HH, Chang JG, Tsai CH, Tsai FJ, Chao HT, Chung B.
    Clin Chem; 2000 May 07; 46(5):606-11. PubMed ID: 10794740
    [Abstract] [Full Text] [Related]

  • 15. 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 07; 79(3):214-20. PubMed ID: 12855227
    [Abstract] [Full Text] [Related]

  • 16. 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 07; 22(13):1171-6. PubMed ID: 12478627
    [Abstract] [Full Text] [Related]

  • 17. 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 07; 14(1):90-1. PubMed ID: 10447270
    [Abstract] [Full Text] [Related]

  • 18. Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency.
    Koppens PF, Hoogenboezem T, Drop SL, de Muinck-Keizer-Schrama SM, Degenhart HJ.
    Clin Endocrinol (Oxf); 1998 Dec 07; 49(6):815-22. PubMed ID: 10209571
    [Abstract] [Full Text] [Related]

  • 19. 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 07; 74(3):553-8. PubMed ID: 1740489
    [Abstract] [Full Text] [Related]

  • 20. How a patient homozygous for a 30-kb deletion of the C4-CYP 21 genomic region can have a nonclassic form of 21-hydroxylase deficiency.
    L'Allemand D, Tardy V, Grüters A, Schnabel D, Krude H, Morel Y.
    J Clin Endocrinol Metab; 2000 Dec 07; 85(12):4562-7. PubMed ID: 11134109
    [Abstract] [Full Text] [Related]

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