Biomedical Engineering Reference
In-Depth Information
46. van Kuilenburg, A.B.P., Meijer, J., Mul, A.N., Hennekam, R.C., Hoovers,
J.M., de Die-Smulders, C.E., Weber, P., Mori, A.C., Bierau, J., Fowler, B.,
Macke, K., Sass, J.O., Meinsma, R., Hennermann, J.B., Miny, P., Zoetekouw,
L., Vijzelaar, R., Nicolai, J., Ylstra, B., and Rubio-Gozalbo, M.E. (2009):
Analysis of severely affected patients with dihydropyrimidine
dehydrogenase deficiency reveals large intragenic rearrangements of
DPYD and a de novo interstitial deletion del(1)(p13.3, p21.3).
Hum.
, 125: 581-590.
47. van Kuilenburg, A.B.P., Meijer, J., Mul, A.N., Meinsma, R., Schmid, V.,
Dobritzsch, D., Hennekam, R.C., Mannens, M.M., Kiechle, M., Etienne-
Grimaldi, M.C., Klumpen, H.J., Maring, J.G., Derleyn, V.A., Maartense,
E., Milano, G., Vijzelaar, R., and Gross, E. (2010): Intragenic deletions
and a deep intronic mutation affecting pre-mRNA splicing in the
dihydropyrimidine dehydrogenase gene as novel mechanisms causing
5-fluorouracil toxicity.
Genet.
, 128: 529-538.
48. van Kuilenburg, A.B.P., Meinsma, R., Beke, E., Bobba, B., Boffi, P., Enns,
G.M., Witt, D.R., and Dobritzsch, D. (2005): Identification of three novel
mutations in the dihydropyrimidine dehydrogenase gene associated
with altered pre-mRNA splicing or protein function.
Hum. Genet.
Biol. Chem.
, 386:
319-324.
49. van Kuilenburg, A.B.P., Meinsma, R., Zoetekouw, L., and van Gennip, A.H.
(2002): Increased risk of grade IV neutropenia after administration of
5-fluorouracil due to a dihydropyrimidine dehydrogenase deficiency:
high prevalence of the IVS14+1g>a mutation.
Int. J. Cancer
, 101: 253-
258.
50. van Kuilenburg, A.B.P., Muller, E.W., Haasjes, J., Meinsma, R., Zoetekouw,
L., Waterham, H.R., Baas, F., Richel, D.J., and van Gennip, A.H. (2001):
Lethal outcome of a patient with a complete dihydropyrimidine
dehydrogenase (DPD) deficiency after administration of 5-fluorouracil:
frequency of the common IVS14+1G>A mutation causing DPD
deficiency.
, 7: 1149-1153.
51. van Kuilenburg, A.B.P., van, L.H., Tromp, A., Veltman, P.C., and van
Gennip, A.H. (2000): Pitfalls in the diagnosis of patients with a partial
dihydropyrimidine dehydrogenase deficiency.
Clin. Cancer Res.
, 46: 9-17.
52. van Kuilenburg, A.B.P., Vreken, P., Abeling, N.G., Bakker, H.D., Meinsma,
R., van, L.H., De Abreu, R.A., Smeitink, J.A., Kayserili, H., Apak, M.Y.,
Christensen, E., Holopainen, I., Pulkki, K., Riva, D., Botteon, G., Holme, E.,
Tulinius, M., Kleijer, W.J., Beemer, F.A., Duran, M., Niezen-Koning, K.E.,
Smit, G.P., Jakobs, C., Smit, L.M., and van Gennip, A.H. (1999): Genotype
and phenotype in patients with dihydropyrimidine dehydrogenase
deficiency.
Clin. Chem.
Hum. Genet.
, 104: 1-9.
