These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

149 related articles for article (PubMed ID: 8034294)

  • 1. Characterization of mutations on the rare duplicated C4/CYP21 haplotype in steroid 21-hydroxylase deficiency.
    Wedell A; Stengler B; Luthman H
    Hum Genet; 1994 Jul; 94(1):50-4. PubMed ID: 8034294
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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
    [TBL] [Abstract][Full Text] [Related]  

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

  • 5. 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; 88(6):2726-9. PubMed ID: 12788880
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency.
    Coeli FB; Soardi FC; Bernardi RD; de Araújo M; Paulino LC; Lau IF; Petroli RJ; de Lemos-Marini SH; Baptista MT; Guerra-Júnior G; de-Mello MP
    BMC Med Genet; 2010 Jun; 11():104. PubMed ID: 20587039
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in steroid 21-hydroxylase (CYP21).
    White PC; Tusie-Luna MT; New MI; Speiser PW
    Hum Mutat; 1994; 3(4):373-8. PubMed ID: 8081391
    [TBL] [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; 74(3):553-8. PubMed ID: 1740489
    [TBL] [Abstract][Full Text] [Related]  

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

  • 12. A rare duplicated 21-hydroxylase haplotype and a de novo mutation: a family analysis.
    Baumgartner-Parzer SM; Nowotny P; Waldhäusl W; Vierhapper H
    J Clin Endocrinol Metab; 2003 Jun; 88(6):2794-6. PubMed ID: 12788889
    [TBL] [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; 8(5):1393-402. PubMed ID: 2788573
    [TBL] [Abstract][Full Text] [Related]  

  • 14. CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families.
    Sinnott PJ; Livieri C; Sampietro M; Marconi M; Harris R; Severi F; Strachan T
    Hum Genet; 1992 Mar; 88(5):545-51. PubMed ID: 1551657
    [TBL] [Abstract][Full Text] [Related]  

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

  • 16. 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; 47(10):517-22. PubMed ID: 12376740
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Duplication of the CYP21A2 gene complicates mutation analysis of steroid 21-hydroxylase deficiency: characteristics of three unusual haplotypes.
    Koppens PF; Hoogenboezem T; Degenhart HJ
    Hum Genet; 2002 Oct; 111(4-5):405-10. PubMed ID: 12384784
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Use of TaqI digestion may lead to incorrect molecular diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
    Lee HH; de Wijs IJ; Sistermans EA
    Mol Genet Metab; 2000 Aug; 70(4):322-4. PubMed ID: 10993720
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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; 92(23):10796-800. PubMed ID: 7479886
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.