Vijzelaar R - Search Results

1

Multi-ethnic SULT1A1 copy number profiling with multiplex ligation-dependent probe amplification.

Vijzelaar R, Botton MR, Stolk L, Martis S, Desnick RJ, Scott SA. Vijzelaar R, et al. Pharmacogenomics. 2018 Jun 1;19(9):761-770. doi: 10.2217/pgs-2018-0047. Epub 2018 May 23. Pharmacogenomics. 2018. PMID: 29790428 Free PMC article.

2

Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation.

Martis S, Mei H, Vijzelaar R, Edelmann L, Desnick RJ, Scott SA. Martis S, et al. Among authors: vijzelaar r. Pharmacogenomics J. 2013 Dec;13(6):558-66. doi: 10.1038/tpj.2012.48. Epub 2012 Nov 20. Pharmacogenomics J. 2013. PMID: 23164804 Free PMC article.

3

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

4

Rapid Detection of the Three Celiac Disease Risk Genotypes HLA-DQ2.2, HLA-DQ2.5, and HLA-DQ8 by Multiplex Ligation-Dependent Probe Amplification.

Vijzelaar R, van der Zwan E, van Gammeren A, Yilmaz R, Verheul A, van Hoogstraten I, de Baar E, Schrauwen L, Kortlandt W. Vijzelaar R, et al. Genet Test Mol Biomarkers. 2016 Mar;20(3):158-61. doi: 10.1089/gtmb.2015.0233. Epub 2016 Jan 22. Genet Test Mol Biomarkers. 2016. PMID: 26798991

5

MLPA-based approach for initial and simultaneous detection of GBA deletions and recombinant alleles in patients affected by Gaucher Disease.

Amico G, Grossi S, Vijzelaar R, Lanza F, Mazzotti R, Corsolini F, Ketema M, Filocamo M. Amico G, et al. Among authors: vijzelaar r. Mol Genet Metab. 2016 Dec;119(4):329-337. doi: 10.1016/j.ymgme.2016.10.008. Epub 2016 Oct 27. Mol Genet Metab. 2016. PMID: 27802905

6

Integrated CYP2D6 interrogation for multiethnic copy number and tandem allele detection.

Qiao W, Martis S, Mendiratta G, Shi L, Botton MR, Yang Y, Gaedigk A, Vijzelaar R, Edelmann L, Kornreich R, Desnick RJ, Scott SA. Qiao W, et al. Among authors: vijzelaar r. Pharmacogenomics. 2019 Jan;20(1):9-20. doi: 10.2217/pgs-2018-0135. Epub 2018 Dec 6. Pharmacogenomics. 2019. PMID: 30730286 Free PMC article.

7

The frequency of SMN gene variants lacking exon 7 and 8 is highly population dependent.

Vijzelaar R, Snetselaar R, Clausen M, Mason AG, Rinsma M, Zegers M, Molleman N, Boschloo R, Yilmaz R, Kuilboer R, Lens S, Sulchan S, Schouten J. Vijzelaar R, et al. PLoS One. 2019 Jul 24;14(7):e0220211. doi: 10.1371/journal.pone.0220211. eCollection 2019. PLoS One. 2019. PMID: 31339938 Free PMC article.

8

Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences.

Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, Schouten JP, Errami A. Nygren AO, et al. Nucleic Acids Res. 2005 Aug 16;33(14):e128. doi: 10.1093/nar/gni127. Nucleic Acids Res. 2005. PMID: 16106041 Free PMC article.

9

Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction.

Zvereff V, Yao S, Ramsey J, Mikhail FM, Vijzelaar R, Messiaen L. Zvereff V, et al. Among authors: vijzelaar r. Genet Test Mol Biomarkers. 2010 Aug;14(4):505-10. doi: 10.1089/gtmb.2009.0188. Genet Test Mol Biomarkers. 2010. PMID: 20575693

10

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Spencer E, Davis J, Mikhail F, Fu C, Vijzelaar R, Zackai EH, Feret H, Meyn MS, Shugar A, Bellus G, Kocsis K, Kivirikko S, Pöyhönen M, Messiaen L. Spencer E, et al. Among authors: vijzelaar r. Am J Med Genet A. 2011 Jun;155A(6):1352-9. doi: 10.1002/ajmg.a.33894. Epub 2011 May 5. Am J Med Genet A. 2011. PMID: 21548021

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