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 *

176 related articles for article (PubMed ID: 8892022)

  • 1. A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiency.
    Vreken P; Van Kuilenburg AB; Meinsma R; Smit GP; Bakker HD; De Abreu RA; van Gennip AH
    J Inherit Metab Dis; 1996; 19(5):645-54. PubMed ID: 8892022
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Human polymorphism in drug metabolism: mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uracilurea.
    Meinsma R; Fernandez-Salguero P; Van Kuilenburg AB; Van Gennip AH; Gonzalez FJ
    DNA Cell Biol; 1995 Jan; 14(1):1-6. PubMed ID: 7832988
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin.
    Fernandez-Salguero PM; Sapone A; Wei X; Holt JR; Jones S; Idle JR; Gonzalez FJ
    Pharmacogenetics; 1997 Apr; 7(2):161-3. PubMed ID: 9170156
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Dihydropyrimidine dehydrogenase (DPD) deficiency: identification and expression of missense mutations C29R, R886H and R235W.
    Vreken P; Van Kuilenburg AB; Meinsma R; van Gennip AH
    Hum Genet; 1997 Dec; 101(3):333-8. PubMed ID: 9439663
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria.
    Au KM; Lai CK; Yuen YP; Shek CC; Lam CW; Chan AY
    Hong Kong Med J; 2003 Apr; 9(2):130-2. PubMed ID: 12668826
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Prevalence of a common point mutation in the dihydropyrimidine dehydrogenase (DPD) gene within the 5'-splice donor site of intron 14 in patients with severe 5-fluorouracil (5-FU)- related toxicity compared with controls.
    Raida M; Schwabe W; Häusler P; Van Kuilenburg AB; Van Gennip AH; Behnke D; Höffken K
    Clin Cancer Res; 2001 Sep; 7(9):2832-9. PubMed ID: 11555601
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Heterozygosity for a point mutation in an invariant splice donor site of dihydropyrimidine dehydrogenase and severe 5-fluorouracil related toxicity.
    Van Kuilenburg AB; Vreken P; Beex LV; Meinsma R; Van Lenthe H; De Abreu RA; van Gennip AH
    Eur J Cancer; 1997 Nov; 33(13):2258-64. PubMed ID: 9470816
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Characterization of the human dihydropyrimidine dehydrogenase gene.
    Wei X; Elizondo G; Sapone A; McLeod HL; Raunio H; Fernandez-Salguero P; Gonzalez FJ
    Genomics; 1998 Aug; 51(3):391-400. PubMed ID: 9721209
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular basis of the human dihydropyrimidine dehydrogenase deficiency and 5-fluorouracil toxicity.
    Wei X; McLeod HL; McMurrough J; Gonzalez FJ; Fernandez-Salguero P
    J Clin Invest; 1996 Aug; 98(3):610-5. PubMed ID: 8698850
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Identification of a four-base deletion (delTCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression.
    Vreken P; Van Kuilenburg AB; Meinsma R; De Abreu RA; Van Gennip AH
    Hum Genet; 1997 Aug; 100(2):263-5. PubMed ID: 9254861
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Dihydropyrimidine dehydrogenase deficiency. Identification of two novel mutations and expression of missense mutations in E. coli.
    Vreken P; van Kuilenburg AB; Meinsma R; van Gennip AH
    Adv Exp Med Biol; 1998; 431():341-6. PubMed ID: 9598088
    [No Abstract]   [Full Text] [Related]  

  • 12. Profound dihydropyrimidine dehydrogenase deficiency resulting from a novel compound heterozygote genotype.
    Johnson MR; Wang K; Diasio RB
    Clin Cancer Res; 2002 Mar; 8(3):768-74. PubMed ID: 11895907
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene.
    Vreken P; Van Kuilenburg AB; Meinsma R; van Gennip AH
    J Inherit Metab Dis; 1997 Jul; 20(3):335-8. PubMed ID: 9266349
    [No Abstract]   [Full Text] [Related]  

  • 14. Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection.
    Sakai N; Santamarina-Fojo S; Yamashita S; Matsuzawa Y; Brewer HB
    J Lipid Res; 1996 Oct; 37(10):2065-73. PubMed ID: 8906584
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutational analysis of the human dihydropyrimidine dehydrogenase gene by denaturing high-performance liquid chromatography.
    Fischer J; Schwab M; Eichelbaum M; Zanger UM
    Genet Test; 2003; 7(2):97-105. PubMed ID: 12885330
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency.
    van Kuilenburg AB; Muller EW; Haasjes J; Meinsma R; Zoetekouw L; Waterham HR; Baas F; Richel DJ; van Gennip AH
    Clin Cancer Res; 2001 May; 7(5):1149-53. PubMed ID: 11350878
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency.
    Van Kuilenburg AB; Vreken P; Abeling NG; Bakker HD; Meinsma R; Van Lenthe H; De Abreu RA; Smeitink JA; Kayserili H; Apak MY; Christensen E; Holopainen I; Pulkki K; Riva D; Botteon G; Holme E; Tulinius M; Kleijer WJ; Beemer FA; Duran M; Niezen-Koning KE; Smit GP; Jakobs C; Smit LM; Van Gennip AH
    Hum Genet; 1999 Jan; 104(1):1-9. PubMed ID: 10071185
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Deficiency of the E1 beta subunit in the branched-chain alpha-keto acid dehydrogenase complex due to a single base substitution of the intron 5, resulting in two alternatively spliced mRNAs in a patient with maple syrup urine disease.
    Hayashida Y; Mitsubuchi H; Indo Y; Ohta K; Endo F; Wada Y; Matsuda I
    Biochim Biophys Acta; 1994 Feb; 1225(3):317-25. PubMed ID: 8312380
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.
    van Kuilenburg AB; Dobritzsch D; Meinsma R; Haasjes J; Waterham HR; Nowaczyk MJ; Maropoulos GD; Hein G; Kalhoff H; Kirk JM; Baaske H; Aukett A; Duley JA; Ward KP; Lindqvist Y; van Gennip AH
    Biochem J; 2002 May; 364(Pt 1):157-63. PubMed ID: 11988088
    [TBL] [Abstract][Full Text] [Related]  

  • 20. High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.
    Gross E; Seck K; Neubauer S; Mayr J; Hellebrand H; Ratanaphan A; Lutz V; Stockinger H; Kiechle M
    Int J Oncol; 2003 Feb; 22(2):325-32. PubMed ID: 12527930
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.