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Items: 1 to 20 of 277

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.

Hum Genet. 2009 Jun;125(5-6):581-90. doi: 10.1007/s00439-009-0653-6. Epub 2009 Mar 19.

PMID:
19296131
2.

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.

Nucleosides Nucleotides Nucleic Acids. 2010 Jun;29(4-6):509-14. doi: 10.1080/15257771003730227.

PMID:
20544545
3.

DPYD*2A mutation: the most common mutation associated with DPD deficiency.

Saif MW, Ezzeldin H, Vance K, Sellers S, Diasio RB.

Cancer Chemother Pharmacol. 2007 Sep;60(4):503-7. Epub 2006 Dec 13.

PMID:
17165084
4.

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.

Hum Genet. 2010 Nov;128(5):529-38. doi: 10.1007/s00439-010-0879-3. Epub 2010 Aug 29.

5.

FRA1E common fragile site breaks map within a 370kilobase pair region and disrupt the dihydropyrimidine dehydrogenase gene (DPYD).

Hormozian F, Schmitt JG, Sagulenko E, Schwab M, Savelyeva L.

Cancer Lett. 2007 Feb 8;246(1-2):82-91. Epub 2006 Mar 23.

PMID:
16556484
6.
7.

Lack of large intragenic rearrangements in dihydropyrimidine dehydrogenase (DPYD) gene in fluoropyrimidine-treated patients with high-grade toxicity.

Ticha I, Kleiblova P, Fidlerova J, Novotny J, Pohlreich P, Kleibl Z.

Cancer Chemother Pharmacol. 2009 Aug;64(3):615-8. doi: 10.1007/s00280-009-0970-4. Epub 2009 Mar 14.

PMID:
19288105
8.

Methylation of the DPYD promoter: an alternative mechanism for dihydropyrimidine dehydrogenase deficiency in cancer patients.

Ezzeldin HH, Lee AM, Mattison LK, Diasio RB.

Clin Cancer Res. 2005 Dec 15;11(24 Pt 1):8699-705.

10.

Mutational spectrum of dihydropyrimidine dehydrogenase gene (DPYD) in the Tunisian population.

Ben Fredj R, Gross E, Chouchen L, B'Chir F, Ben Ahmed S, Neubauer S, Kiechle M, Saguem S.

C R Biol. 2007 Oct;330(10):764-9. Epub 2007 Sep 7.

PMID:
17905396
11.

Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.

Paré L, Paez D, Salazar J, Del Rio E, Tizzano E, Marcuello E, Baiget M.

Br J Clin Pharmacol. 2010 Aug;70(2):268-72. doi: 10.1111/j.1365-2125.2010.03683.x.

12.

Known variant DPYD alleles do not explain DPD deficiency in cancer patients.

Collie-Duguid ES, Etienne MC, Milano G, McLeod HL.

Pharmacogenetics. 2000 Apr;10(3):217-23.

PMID:
10803677
13.

Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure.

van Kuilenburg AB, Dobritzsch D, Meinsma R, Haasjes J, Waterham HR, Nowaczyk MJ, Maropoulos GD, Hein G, Kalhoff H, Kirk JM, Baaske H, Aukett A, Duley JA, Ward KP, Lindqvist Y, van Gennip AH.

Biochem J. 2002 May 15;364(Pt 1):157-63.

14.

Hemizygous deletions on chromosome 1p21.3 involving the DPYD gene in individuals with autism spectrum disorder.

Carter MT, Nikkel SM, Fernandez BA, Marshall CR, Noor A, Lionel AC, Prasad A, Pinto D, Joseph-George AM, Noakes C, Fairbrother-Davies C, Roberts W, Vincent J, Weksberg R, Scherer SW.

Clin Genet. 2011 Nov;80(5):435-43. doi: 10.1111/j.1399-0004.2010.01578.x. Epub 2010 Nov 29.

PMID:
21114665
15.

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in Chinese cancer patients.

He YF, Wei W, Zhang X, Li YH, Li S, Wang FH, Lin XB, Li ZM, Zhang DS, Huang HQ, Hu B, Jiang WQ.

J Clin Pharm Ther. 2008 Jun;33(3):307-14. doi: 10.1111/j.1365-2710.2008.00898.x.

PMID:
18452418
16.
17.

Two cases of 5-fluorouracil toxicity linked with gene variants in the DPYD gene.

Ofverholm A, Arkblad E, Skrtic S, Albertsson P, Shubbar E, Enerbäck C.

Clin Biochem. 2010 Feb;43(3):331-4. doi: 10.1016/j.clinbiochem.2009.09.024. Epub 2009 Oct 12.

PMID:
19822137
18.

High-throughput genotyping by DHPLC of the dihydropyrimidine dehydrogenase gene implicated in (fluoro)pyrimidine catabolism.

Gross E, Seck K, Neubauer S, Mayr J, Hellebrand H, Ratanaphan A, Lutz V, Stockinger H, Kiechle M.

Int J Oncol. 2003 Feb;22(2):325-32.

PMID:
12527930
19.

Hypermethylation of the DPYD promoter region is not a major predictor of severe toxicity in 5-fluorouracil based chemotherapy.

Amstutz U, Farese S, Aebi S, Largiadèr CR.

J Exp Clin Cancer Res. 2008 Oct 20;27:54. doi: 10.1186/1756-9966-27-54.

20.

Analysis of the DPYD gene implicated in 5-fluorouracil catabolism in a cohort of Caucasian individuals.

Seck K, Riemer S, Kates R, Ullrich T, Lutz V, Harbeck N, Schmitt M, Kiechle M, Diasio R, Gross E.

Clin Cancer Res. 2005 Aug 15;11(16):5886-92.

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