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Project 25	Farmacogenetica (algemeen) (Erasmus MC)
Onderzoekslijn	Farmacogenetica (Erasmus MC)
Omschrijving
Projectleider	Prof. dr. R.H.N.(Ron) van Schaik
Instituut	Erasmus MC Rotterdam
Trefwoorden
Status	Lopend
Periode	8-2000 - 8-2010
Partners
Medewerkers	Ing. E, de Jonge, Afd. Klinische Chemie
Financiering	1e Geldstroom - Intern
Publicaties	A common polymorphism in the CYP3A7 gene is associated with a nearly 50% reduction in serum dehydroepiandrosterone sulfate levels. CYP3A5 variant allele frequencies in Dutch Caucasians. Sequencing: not always the "gold standard". The CYP3A43 allele: is it really rare? CYP3A4-V polymorphism detection by PCR-restriction fragment length polymorphism analysis and its allelic frequency among 199 Dutch Caucasians. Het juiste geneesmiddel voor de juiste patiënt: farmacogenetica in de kindergeneeskundige praktijk OCT1 polymorphism is associated with response and survival time in anti-Parkinsonian drug users. MDR1 gene polymorphisms are associated with neuropsychiatric adverse effects of mefloquine. A new CYP3A5 variant, CYP3A511, is shown to be defective in nifedipine metabolism in a recombinant cDNA expression system. Hepatotoxicity of oral and intravenous voriconazole in relation to cytochrome P450 polymorphisms. Pharmacogenetics and paediatric drug development: issues and consequences to labelling and dosing recommendations. Effect of CYP2C192 and 17 mutations on pharmacodynamics and kinetics of proton pump inhibitors in Caucasians. Detection of CYP2D6 polymorphisms 9, 10 and 41 using ARMS-PCR and their allelic frequencies in 400 psychiatric patients. Metabole ratio’s van psychofarmaca als indicatie voor het cytochroom-P450- genotype: klinische toepassingen. Genotyping with a dried blood spot method: a useful technique for application in pharmacogenetics. Maternal medication use, carriership of the ABCB1 3435C > T polymorphism and the risk of a child with cleft lip with or without cleft palate. Considerations for the development of a reference method for sequencing of haploid DNA--an opinion paper on behalf of the IFCC Committee on Molecular Diagnostics, International Federation of Clinical Chemistry and Laboratory Medicine. CYP2D64, CYP3A53 and ABCB1 3435T polymorphisms and drug-related falls in elderly people. Genetic techniques for pharmacogenetic analyses. Simultaneous quantification of dextromethorphan and its metabolites dextrorphan, 3-methoxymorphinan and 3-hydroxymorphinan in human plasma by ultra performance liquid chromatography/tandem triple-quadrupole mass spectrometry. Nucleic acid reference materials (NARMs): definitions and issues. Practical recommendations for pharmacogenomics-based prescription: 2010 ESF-UB Conference on Pharmacogenetics and Pharmacogenomics. General maternal medication use, folic acid, the MDR1 C3435T polymorphism, and the risk of a child with a congenital heart defect. Pharmacogenetics: from bench to byte--an update of guidelines. Integration of Pharmacogenetics and Pharmacogenomics in Drug Development: Implications for Regulatory and Medical Decision Making in Pediatric Diseases. A comparison of the acid-inhibitory effects of esomeprazole and rabeprazole in relation to pharmacokinetics and CYP2C19 polymorphism. Institutional Profile: Golden Helix Institute of Biomedical Research: interdisciplinary research and educational activities in pharmacogenomics and personalized medicine. Praktisch Farmacogenetisch advies in de G-standaard Doubt about the feasibility of preemptive genotyping. Impact of POR28 on the clinical pharmacokinetics of CYP3A phenotyping probes midazolam and erythromycin. CYP3A4 intron 6 C>T SNP (CYP3A422) encodes lower CYP3A4 activity in cancer patients, as measured with probes midazolam and erythromycin. A clinical approach to pharmacogenetics. Evidence based drug dosing and pharmacotherapeutic recommendations per genotype. A guide to the current web-based resources in pharmacogenomics. New challenges for pharmacogenomics. Pharmacogenomics: from cell to clinic (Part 1). Conference Scene: Pharmacogenomics: from cell to clinic (Part 2). Do Asian renal transplant patients need another mycophenolate mofetil dose compared with Caucasian or African American patients? Key challenges for next-generation pharmacogenomics: Science & Society series on Science and Drugs. Personalized pharmacogenomics profiling using whole-genome sequencing. Stakeholder analysis in pharmacogenomics and genomic medicine in Greece. V2014. Pharmacogenetics: a passport to individualized Therapy (Luminex xSamples Symposium, Birgminham; invited speaker) Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe. Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe. Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe. Is laboratory medicine ready for the era of personalized medicine? A survey addressed to laboratory directors of hospitals/academic schools of medicine in Europe. Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting. Systems medicine, personalized health and therapy. An Alternative Methodological Approach for Cost-Effectiveness Analysis and Decision Making in Genomic Medicine. Pre-examination factors affecting molecular diagnostic test results and interpretation: A case-based approach. Minimum information required for a DMET experiment reporting. A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. Test Pricing and Reimbursement in Genomic Medicine: Towards a General Strategy. Economic analysis of pharmacogenomic-guided clopidogrel treatment in Serbian patients with myocardial infarction undergoing primary percutaneous coronary intervention. V2015. Pharmacogenetics: a passport to individualized Therapy (Uskudar Univ, Istanbul; invited speaker) V2016. Pharmacogenetics in clinical practice (CBG-MEB dag Utrecht; invited speaker) V2016. Pharmacogenetics: a tool for individualized therapy (Dept Clinical Genetics lecture series, UMC Utrecht; invited speaker) Performance Ratio Based Resource Allocation Decision-Making in Genomic Medicine. Correction: A European Spectrum of Pharmacogenomic Biomarkers: Implications for Clinical Pharmacogenomics. Effect of Short-Term Fasting on Systemic Cytochrome P450-Mediated Drug Metabolism in Healthy Subjects: A Randomized, Controlled, Crossover Study Using a Cocktail Approach. A transnational collaborative network dedicated to the study and applications of the vascular endothelial growth factor-A in medical practice: the VEGF Consortium. Creation of the Swiss group of Pharmacogenomics and personalised Therapy (SPT). Accurate determination of the CYP2D6 (1/*4)xN genotype by quantitative PCR. Pharmacogenetic information in clinical guidelines - the European perspective. Toward harmonization of clinical molecular diagnostic reports: findings of an international survey. Proteomics of human liver membrane transporters: a focus on fetuses and newborn infants. Confirmation practice in pharmacogenetic testing; how good is good enough? 4th ESPT summer school: precision medicine and personalised health. Pharmacogenomics education in medical and pharmacy schools: conclusions of a global survey. Global Pharmacogenomics Within Precision Medicine: Challenges and Opportunities. 4th ESPT Conference: pharmacogenomics and personalized medicine - research progress and clinical implementation. [Pharmacogenetics in daily practice]. V2018. Pharmacogenetica in de Psychiatrie V2020. Pharmacogenetics: clinical applications V2020. Pharmacogenetics: latest developments The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What`s next? An urgent clinical unmet need for patients. CYP3A4?22 Genotyping in Clinical Practice: Ready for Implementation? The need of the clinical implementation of pharmacogenetics in European health services for routine drug prescription. What`s next? An urgent clinical unmet need for patients. Dutch Pharmacogenetics Working Group (DPWG) guideline for the gene-drug interaction between CYP2C19 and CYP2D6 and SSRIs. PharmVar GeneFocus: CYP3A5. TPMT and NUDT15 Genotyping Recommendations: A Joint Consensus Recommendation of the Association for Molecular Pathology, Clinical Pharmacogenetics Implementation Consortium, College of American Pathologists, Dutch Pharmacogenetics Working Group of the Ro Dutch pharmacogenetics working group guideline for the gene-drug interaction of ABCG2, HLA-B and Allopurinol, and MTHFR, folic acid and methotrexate. Call for Manuscript Submissions for a Thematic eJIFCC Issue on "Pharmacogenetics and Personalized Therapy".