Search Results - "VIJZELAAR, R."

Multi-ethnic cytochrome-P450 copy number profiling: novel pharmacogenetic alleles and mechanism of copy number variation formation by Martis, S, Mei, H, Vijzelaar, R, Edelmann, L, Desnick, R J, Scott, S A

“…To determine the role of CYP450 copy number variation (CNV) beyond CYP2D6 , 11 CYP450 genes were interrogated by multiplex ligation-dependent probe…”
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Development of Multiplex Assay for Rapid Characterization of Mycobacterium tuberculosis by Bergval, I.L, Vijzelaar, R.N.C.P, Dalla Costa, E.R, Schuitema, A.R.J, Oskam, L, Kritski, A.L, Klatser, P.R, Anthony, R.M

“…We have developed a multiplex assay, based on multiplex ligation-dependent probe amplification (MLPA), that allows simultaneous detection of multiple drug…”
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Detailed analysis of 22q11.2 with a high density MLPA probe set by Jalali, G.R, Vorstman, J.A.S, Errami, Ab, Vijzelaar, R, Biegel, J, Shaikh, T, Emanuel, B.S

“…The presence of chromosome-specific low-copy repeats (LCRs) predisposes chromosome 22 to deletions and duplications. The current diagnostic procedure for…”
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Somatic copy number changes in DPYD are associated with lower risk of recurrence in triple-negative breast cancers by 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, A B P

“…Background: Genomic rearrangements at the fragile site FRA1E may disrupt the dihydropyrimidine dehydrogenase gene ( DPYD ) which is involved in 5-fluorouracil…”
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Frequent intragenic rearrangements of DPYD in colorectal tumours by van Kuilenburg, A B P, Etienne-Grimaldi, M-C, Mahamat, A, Meijer, J, Laurent-Puig, P, Olschwang, S, Gaub, M-P, Hennekam, R C M, Benchimol, D, Houry, S, Letoublon, C, Gilly, F-N, Pezet, D, Andre, T, Faucheron, J-L, Abderrahim-Ferkoune, A, Vijzelaar, R, Pradere, B, Milano, G

“…Dihydropyrimidine dehydrogenase is a crucial enzyme for the degradation of 5-fluorouracil (5FU). DPYD, which encodes dihydropyrimidine dehydrogenase, is prone…”
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Multiplex ligation-dependent probe amplification to detect a large deletion within the von Willebrand gene by ACQUILA, M., BOTTINI, F., DI DUCA, M., VIJZELAAR, R., MOLINARI, A. C., BICOCCHI, M. P.

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Large germline deletions and duplication in isolated cerebral cavernous malformation patients by FELBOR, U, GAETZNER, S, VERLAAN, D. J, VIJZELAAR, R, ROULEAU, G. A, SIEGEL, A. M

“…Cerebral cavernous malformations (CCM) are vascular lesions that predispose to headaches, seizures, and hemorrhagic stroke. Hereditary CCMs are usually…”
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Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD by van Kuilenburg, A. B. P., Meijer, J., Gökcay, G., Baykal, T., Rubio-Gozalbo, M. E., Mul, A. N. P. M., de Die-Smulders, C. E. M., Weber, P., Mori, A. Capone, Bierau, J., Fowler, B., Macke, K., Sass, J. O., Meinsma, R., Hennermann, J. B., Miny, P., Zoetekouw, L., Roelofsen, J., Vijzelaar, R., Nicolai, J., Hennekam, R. C. M.

“…Dihydropyrimidine dehydrogenase (DPD) deficiency is an autosomal recessive disorder of the pyrimidine degradation pathway. In a patient presenting with…”
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Detection of homologous recombination defects in biopsies of sporadic breast cancers by Hannemann, J, Mulder, L, Halfwerk, H, Linn, S, Sonke, G, Vijzelaar, R, Errami, A, Vrancken-Peeters, M.J, Van de Vijver, M.J, Rodenhuis, S

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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 by van Kuilenburg, André B. P., Meijer, Judith, Mul, Adri N. P. M., Meinsma, Rutger, Schmid, Veronika, Dobritzsch, Doreen, Hennekam, Raoul C. M., Mannens, Marcel M. A. M., Kiechle, Marion, Etienne-Grimaldi, Marie-Christine, Klümpen, Heinz-Josef, Maring, Jan Gerard, Derleyn, Veerle A., Maartense, Ed, Milano, Gérard, Vijzelaar, Raymon, Gross, Eva

“…Dihydropyrimidine dehydrogenase (DPD) is the initial enzyme acting in the catabolism of the widely used antineoplastic agent 5-fluorouracil (5FU). DPD…”
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Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndrome by Nillesen, Willy M., Yntema, Helger G., Moscarda, Marco, Verbeek, Nienke E., Wilson, Louise C., Cowan, Frances, Schepens, Marga, Raas-Rothschild, Annick, Gafni-Weinstein, Orly, Zollino, Marcella, Vijzelaar, Raymon, Neri, Giovanni, Nelen, Marcel, Bokhoven, Hans van, Giltay, Jacques, Kleefstra, Tjitske

“…The core phenotype of Kleefstra syndrome (KS) is characterized by intellectual disability, childhood hypotonia, and a characteristic facial appearance. This…”
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Identification of PKHD1 multiexon deletions using multiplex ligation-dependent probe amplification and quantitative polymerase chain reaction by Zvereff, Val, Yao, Suxia, Ramsey, Julia, Mikhail, Fady M, Vijzelaar, Raymon, Messiaen, Ludwine

“…Mutations in the PKHD1 gene are responsible for autosomal recessive polycystic kidney disease (ARPKD). Using exon scanning by denaturing high-performance…”
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Homologous recombination defects in sporadic breast cancers by Hannemann, J., Mulder, L., Linn, S. C., Sonke, G., Vijzelaar, R., Errami, A., Vrancken-Peeters, M., van de Vijver, M. J., Rodenhuis, S.

“…Abstract only…”
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