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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: mori ac. 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: mori ac. Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227. Nucleosides Nucleotides Nucleic Acids. 2010. PMID: 20544545
Impact of stroke volume on motor outcome in neonatal arterial ischemic stroke.
Wiedemann A, Pastore-Wapp M, Slavova N, Steiner L, Weisstanner C, Regényi M, Steinlin M, Grunt S; Swiss Neuropediatric Stroke Registry Group. Wiedemann A, et al. Eur J Paediatr Neurol. 2020 Mar;25:97-105. doi: 10.1016/j.ejpn.2019.10.006. Epub 2019 Nov 1. Eur J Paediatr Neurol. 2020. PMID: 31740218
Quality of life after paediatric ischaemic stroke.
Kornfeld S, Studer M, Winkelbeiner S, Regényi M, Boltshauser E, Steinlin M; Swiss Neuropediatric Stroke group. Kornfeld S, et al. Dev Med Child Neurol. 2017 Jan;59(1):45-51. doi: 10.1111/dmcn.13295. Epub 2016 Oct 21. Dev Med Child Neurol. 2017. PMID: 27767202 Free article.
14 results