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31篇 您的检索式:作者名="MEINSMA R"
    题名 作者 年代 出处 被引量
1Identification of novel point mutations in the dihydropyrimidine dehydrogenase gene显示文摘Vreken P Van Kuilenburg ABP Meinsma R 1997J Inher Metab Dis1997,20,:1
2Increased risk of grade IV neutropenia after administration of 5 fluorouracil due to a dihydropyrimidine dehydrogenase deficiency: high prevalence of the IVS14 + 1 g > a mutation 显示文摘VAN KUILENBURG A B MEINSMA R ZOETEKOUW L 2002Int J Cancer2002,101,3:1
3Identification of a four-base deletion (del TCAT296-299) in the dihydropyrimidine dehydrogenase gene with variable clinical expression显示文摘Vreken P Van Kuilenburg ABP Meinsma R 1997Hum Genet1997,100,:1
4Beta- Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities显示文摘van Kuilenburg AB Meinsma R Beke E 2004Hum Mol Genet2004,13,22:1
5Dihydropyrimidine dehydrogenase(DPD) deficiency:identification and expression of missense mutations C29R,R886H and R235W显示文摘Vreken P A Meinsma R 1997Hum Genet1997,101,3:1
6High prevalence of the IVS14 + 1G >A mutation in the dihydropyrimi-dine dehydrogenase gene of patients with severe 5-flourouracil associated toxicity显示文摘Van Kuilenburg Meinsma R Zoetekouw L 2002Pharmacogenetics2002,12,7:1
7Beta-ureidopro- pionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities 显示文摘van Kuilenburg AB Meinsma R Beke E 2004Hum Mol Genet2004,13,22:1
8Genetic analy- sis of the first 4 patients with beta-ureidopropionase deficien- cy 显示文摘van Kuilenburg AB Meinsma R Assman B 2006Nucleosides Nucleotides Nucleic Acids2006,25,91:1
9High prevalence of the IVS14 + 1G > A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil associated toxicity显示文摘VAN KUILENBURG A B MEINSMA R ZOETEKOUW L 2002Pharmacogenetics2002,12,7:1
10Geneexpression profiling in response to the histone deacetylase inhibitor BL1521 in neuroblastoma显示文摘de Ruijter A J Meinsma R J Bosma P 2005Exp Cell Res2005,309,2:1
11Dihydropyrimidine dehydrogenase ( DPD ) deficiency : identification and expression of missense mutations C29R, R886H and R235W 显示文摘Yreken P Van Kuilenburg AB Meinsma R 1997Hum Genet1997,101,3:1
12Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure显示文摘van KUILENBURG A B DOBRITZSCH D MEINSMA R 2002Biochem J2002,364,1:1
13Lethal 5- fluorouracil toxicity associated with a novel mutation in the dihydropyrimidine dehydrogenase gene显示文摘VAN KUILENBURG A B BAARS J W MEINSMA R 2003Ann Oncol2003,14,2:1
14Novel disease-causing mutations in the dihyropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure 显示文摘VAN KUILENBURG A B DOBRITZSCH D MEINSMA R 2002Biochem J2002,364,1:1
15High prevalence of the IVS14 + 1G >A mutation in the dihydropyrimidine dehydrogenase gene of patients with severe 5-fluorouracil-associated toxicity显示文摘VAN KUILENBURG A B MEINSMA R ZOETEKOUW L 2002Pharmacogenetics2002,12,7:1
16Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function 显示文摘VAN KUILENBURG A B MEINSMA R BEKE E 2005Biol Chem2005,386,4:1
17Identification of a novel disease-causing mutation (100delA) in the dihydropyrimidine dehydrogenase gene 显示文摘VAN KUILENBURG A B MEINSMA J R POLL-THE B T 2002Int Arch Biocsl2002,1,:1
18Human polymorphism in drug metabolism:mutation in the dihydropyrimidine dehydrogenase gene results in exon skipping and thymine uraciluria显示文摘Meinsma R Femandez-Salguero P van Kuilenburg AB 1995DNA Cell Biol1995,14,:1
19Dihydropyrimidine dehydrogenase (DPD) deficiency:novel mutations in the DPD gene显示文摘van KUILENBURG A B HAASJES J MEINSMA R 2000Adv Exp Med Biol2000,486,:1
20Pyrimidine deg- radation defects and severe 5-fluorouracil toxicity显示文摘van Kuilenburg AB Meinsma R van Gennip AH 2004Nucleosides Nucleotides Nucleic Acids2004,23,89:1
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