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Page 1
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
van Kuilenburg AB, Meijer J, Mul AN, Hennekam RC, Hoovers JM, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Vijzelaar R, Nicolai J, Ylstra B, Rubio-Gozalbo ME. van Kuilenburg AB, et al. Among authors: vijzelaar r. Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19. Hum Genet. 2009. PMID: 19296131 Free article.
Dihydropyrimidine dehydrogenase deficiency caused by a novel genomic deletion c.505_513del of DPYD.
van Kuilenburg AB, Meijer J, Gökcay G, Baykal T, Rubio-Gozalbo ME, Mul AN, de Die-Smulders CE, Weber P, Mori AC, Bierau J, Fowler B, Macke K, Sass JO, Meinsma R, Hennermann JB, Miny P, Zoetekouw L, Roelofsen J, Vijzelaar R, Nicolai J, Hennekam RC. van Kuilenburg AB, et al. Among authors: vijzelaar r. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545
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. Among authors: vijzelaar r. 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: vijzelaar r. 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.
Frequent intragenic rearrangements of DPYD in colorectal tumours.
van Kuilenburg AB, Etienne-Grimaldi MC, Mahamat A, Meijer J, Laurent-Puig P, Olschwang S, Gaub MP, Hennekam RC, Benchimol D, Houry S, Letoublon C, Gilly FN, Pezet D, Andre T, Faucheron JL, Abderrahim-Ferkoune A, Vijzelaar R, Pradere B, Milano G. van Kuilenburg AB, et al. Among authors: vijzelaar r. Pharmacogenomics J. 2015 Jun;15(3):211-8. doi: 10.1038/tpj.2014.68. Epub 2014 Oct 28. Pharmacogenomics J. 2015. PMID: 25348620
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome.
Parri V, Katzaki E, Uliana V, Scionti F, Tita R, Artuso R, Longo I, Boschloo R, Vijzelaar R, Selicorni A, Brancati F, Dallapiccola B, Zelante L, Hamel CP, Sarda P, Lalani SR, Grasso R, Buoni S, Hayek J, Servais L, de Vries BB, Georgoudi N, Nakou S, Petersen MB, Mari F, Renieri A, Ariani F. Parri V, et al. Among authors: vijzelaar r. Eur J Hum Genet. 2010 Oct;18(10):1133-40. doi: 10.1038/ejhg.2010.59. Epub 2010 May 12. Eur J Hum Genet. 2010. PMID: 20461111 Free PMC article.
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