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3. A novel large intragenic DPYD deletion causing dihydropyrimidine dehydrogenase deficiency: a case report. Malekkou A; Tomazou M; Mavrikiou G; Dionysiou M; Georgiou T; Papaevripidou I; Alexandrou A; Sismani C; Drousiotou A; Grafakou O; Petrou PP BMC Med Genomics; 2024 Mar; 17(1):78. PubMed ID: 38528593 [TBL] [Abstract][Full Text] [Related]
4. Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing. van Kuilenburg AB; Meijer J; Maurer D; Dobritzsch D; Meinsma R; Los M; Knegt LC; Zoetekouw L; Jansen RL; Dezentjé V; van Huis-Tanja LH; van Kampen RJ; Hertz JM; Hennekam RC Biochim Biophys Acta Mol Basis Dis; 2017 Mar; 1863(3):721-730. PubMed ID: 28024938 [TBL] [Abstract][Full Text] [Related]
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7. Preemptive screening of DPYD as part of clinical practice: high prevalence of a novel exon 4 deletion in the Finnish population. Saarenheimo J; Wahid N; Eigeliene N; Ravi R; Salomons GS; Ojeda MF; Vijzelaar R; Jekunen A; van Kuilenburg ABP Cancer Chemother Pharmacol; 2021 May; 87(5):657-663. PubMed ID: 33544210 [TBL] [Abstract][Full Text] [Related]
9. Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency. Henricks LM; Siemerink EJM; Rosing H; Meijer J; Goorden SMI; Polstra AM; Zoetekouw L; Cats A; Schellens JHM; van Kuilenburg ABP Int J Cancer; 2018 Jan; 142(2):424-430. PubMed ID: 28929491 [TBL] [Abstract][Full Text] [Related]
10. Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines. Meulendijks D; Henricks LM; van Kuilenburg AB; Jacobs BA; Aliev A; Rozeman L; Meijer J; Beijnen JH; de Graaf H; Cats A; Schellens JH Cancer Chemother Pharmacol; 2016 Oct; 78(4):875-80. PubMed ID: 27544765 [TBL] [Abstract][Full Text] [Related]
11. FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD). Hormozian F; Schmitt JG; Sagulenko E; Schwab M; Savelyeva L Cancer Lett; 2007 Feb; 246(1-2):82-91. PubMed ID: 16556484 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder. Carter MT; Nikkel SM; Fernandez BA; Marshall CR; Noor A; Lionel AC; Prasad A; Pinto D; Joseph-George AM; Noakes C; Fairbrother-Davies C; Roberts W; Vincent J; Weksberg R; Scherer SW Clin Genet; 2011 Nov; 80(5):435-43. PubMed ID: 21114665 [TBL] [Abstract][Full Text] [Related]
14. Genotyping of a family with a novel deleterious DPYD mutation supports the pretherapeutic screening of DPD deficiency with dihydrouracil/uracil ratio. Thomas F; Hennebelle I; Delmas C; Lochon I; Dhelens C; Garnier Tixidre C; Bonadona A; Penel N; Goncalves A; Delord JP; Toulas C; Chatelut E Clin Pharmacol Ther; 2016 Feb; 99(2):235-42. PubMed ID: 26265035 [TBL] [Abstract][Full Text] [Related]
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18. 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]
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20. Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population. Ben Fredj R; Gross E; Chouchen L; B'Chir F; Ben Ahmed S; Neubauer S; Kiechle M; Saguem S C R Biol; 2007 Oct; 330(10):764-9. PubMed ID: 17905396 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]