(Q45782171)

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

PubMed publication ID

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

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16 December 2017

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

dihydropyrimidine dehydrogenase deficiency

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19

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16 December 2017

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

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Raoul C M Hennekam

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16 December 2017

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

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Jörgen Bierau

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16 December 2017

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M Estela Rubio-Gozalbo

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M Estela Rubio-Gozalbo

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16 December 2017

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

André B P van Kuilenburg

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André B P van Kuilenburg

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16 December 2017

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

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Judith Meijer

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16 December 2017

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

Adri N P M Mul

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

Jan M N Hoovers

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

Christine E M de Die-Smulders

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

Peter Weber

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

Andrea Capone Mori

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

Brian Fowler

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

Klaus Macke

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

Jörn Oliver Sass

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

Rutger Meinsma

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

Julia B Hennermann

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

Peter Miny

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

Lida Zoetekouw

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

Raymon Vijzelaar

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

Joost Nicolai

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publication date

19 March 2009

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16 December 2017

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

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16 December 2017

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

125

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5-6

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

581-590

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16 December 2017

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

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

0 references

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

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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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Leucodystrophy and oculocutaneous albinism in a child with an 11q14 deletion

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Recurrent de novo point mutations in lamin A cause Hutchinson–Gilford progeria syndrome

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Monosomy of 1p13.3-22.3 in twins

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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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Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification

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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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Global variation in copy number in the human genome

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Diagnosis of dihydropyrimidine dehydrogenase deficiency in a neonate with thymine-uraciluria

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Detection of large-scale variation in the human genome

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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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Regulation of human dihydropyrimidine dehydrogenase: implications in the pharmacogenetics of 5-FU-based chemotherapy

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

1 reference

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Dihydropyrimidine dehydrogenase and the efficacy and toxicity of 5-fluorouracil

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

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Interstitial deletion of the short arm of chromosome 1 (1p13.1p21.1) in a girl with mental retardation, short stature and colobomata.

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Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips

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Identifiers

10.1007/S00439-009-0653-6

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

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

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

16 December 2017

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

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