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Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.
van Kuilenburg AB, Meijer J, Mul AN, Meinsma R, Schmid V, Dobritzsch D, Hennekam RC, Mannens MM, Kiechle M, Etienne-Grimaldi MC, Klümpen HJ, Maring JG, Derleyn VA, Maartense E, Milano G, Vijzelaar R, Gross E. van Kuilenburg AB, et al. Hum Genet. 2010 Nov;128(5):529-38. doi: 10.1007/s00439-010-0879-3. Epub 2010 Aug 29. Hum Genet. 2010. PMID: 20803296 Free PMC article.
Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers.
Gross E, Meul C, Raab S, Propping C, Avril S, Aubele M, Gkazepis A, Schuster T, Grebenchtchikov N, Schmitt M, Kiechle M, Meijer J, Vijzelaar R, Meindl A, van Kuilenburg AB. Gross E, et al. Among authors: van kuilenburg ab. Br J Cancer. 2013 Oct 29;109(9):2347-55. doi: 10.1038/bjc.2013.621. Epub 2013 Oct 8. Br J Cancer. 2013. PMID: 24104963 Free PMC article.
Clinical relevance of DPYD variants c.1679T>G, c.1236G>A/HapB3, and c.1601G>A as predictors of severe fluoropyrimidine-associated toxicity: a systematic review and meta-analysis of individual patient data.
Meulendijks D, Henricks LM, Sonke GS, Deenen MJ, Froehlich TK, Amstutz U, Largiadèr CR, Jennings BA, Marinaki AM, Sanderson JD, Kleibl Z, Kleiblova P, Schwab M, Zanger UM, Palles C, Tomlinson I, Gross E, van Kuilenburg AB, Punt CJ, Koopman M, Beijnen JH, Cats A, Schellens JH. Meulendijks D, et al. Among authors: van kuilenburg ab. Lancet Oncol. 2015 Dec;16(16):1639-50. doi: 10.1016/S1470-2045(15)00286-7. Epub 2015 Oct 23. Lancet Oncol. 2015. PMID: 26603945 Review.
Head imaging abnormalities in dihydropyrimidine dehydrogenase deficiency.
Enns GM, Barkovich AJ, van Kuilenburg AB, Manning M, Sanger T, Witt DR, van Gennip AH. Enns GM, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 2004;27(4):513-22. doi: 10.1023/B:BOLI.0000037350.24142.d5. J Inherit Metab Dis. 2004. PMID: 15303009
Dihydropyrimidine dehydrogenase deficiency presenting at birth.
Al-Sanna'a NA, Van Kuilenburg AB, Atrak TM, Abdul-Jabbar MA, Van Gennip AH. Al-Sanna'a NA, et al. Among authors: van gennip ah, van kuilenburg ab. J Inherit Metab Dis. 2005;28(5):793-6. doi: 10.1007/s10545-005-4218-0. J Inherit Metab Dis. 2005. PMID: 16151913
276 results