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). (Q45782171)

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scientific article published on 19 March 2009

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English	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).	scientific article published on 19 March 2009

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scholarly article

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Europe PubMed Central

16 December 2017

http://europepmc.org/abstract/MED/19296131

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). (English)

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Europe PubMed Central

16 December 2017

http://europepmc.org/abstract/MED/19296131

dihydropyrimidine dehydrogenase deficiency

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19

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Raoul C M Hennekam

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Jörgen Bierau

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M Estela Rubio-Gozalbo

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M Estela Rubio-Gozalbo

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André B P van Kuilenburg

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André B P van Kuilenburg

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author name string

Judith Meijer

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Adri N P M Mul

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Jan M N Hoovers

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Christine E M de Die-Smulders

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Peter Weber

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Andrea Capone Mori

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Brian Fowler

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Klaus Macke

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Jörn Oliver Sass

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Rutger Meinsma

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Julia B Hennermann

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Peter Miny

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Lida Zoetekouw

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Raymon Vijzelaar

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Joost Nicolai

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publication date

19 March 2009

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5-6

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581-590

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https://scigraph.springernature.com/pub.10.1007/s00439-009-0653-6

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A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype-phenotype correlations in type XI collagenopathies

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

1 reference

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21 January 2018

Pitfalls in the diagnosis of patients with a partial dihydropyrimidine dehydrogenase deficiency

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Human and mouse oligonucleotide-based array CGH.

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Changes to the dihydropyrimidine dehydrogenase gene copy number influence the susceptibility of cancers to 5-FU-based drugs: Data mining of the NCI-DTP data sets and validation with human tumour xenografts

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Quantification of 5,6-dihydrouracil by HPLC-electrospray tandem mass spectrometry

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Identification of three novel mutations in the dihydropyrimidine dehydrogenase gene associated with altered pre-mRNA splicing or protein function

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Interstitial deletion of the short arm of chromosome 1 (46XY, del(1)(p13p22.3))

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Short arm deletion of chromosome 1: del(1)(p13.3 p22.3) in a female infant with an extreme tetralogy of Fallot

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Rapid identification of dihydropyrimidine dehydrogenase deficiency by using a novel 2-13C-uracil breath test

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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

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Lack of correlation between phenotype and genotype for the polymorphically expressed dihydropyrimidine dehydrogenase in a family of Pakistani origin

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Characterization of the human dihydropyrimidine dehydrogenase gene

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https://pubmed.ncbi.nlm.nih.gov/19296131

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

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10.1007/S00439-009-0653-6

1 reference

Europe PubMed Central

16 December 2017

http://europepmc.org/abstract/MED/19296131

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1 reference

Europe PubMed Central

16 December 2017

http://europepmc.org/abstract/MED/19296131

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