Found: 21
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Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 1, p. 86, doi. 10.3390/ijms17010086
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- Article
Stressful Events and Continued Smoking and Continued Alcohol Consumption during Mid-Pregnancy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086359
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- Publication type:
- Article
The Use of the Bolk Model for Positive Health and Living Environment in the Development of an Integrated Health Promotion Approach: A Case Study in a Socioeconomically Deprived Neighborhood in The Netherlands.
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- International Journal of Environmental Research & Public Health, 2022, v. 19, n. 4, p. 2478, doi. 10.3390/ijerph19042478
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- Publication type:
- Article
Intragenic deletions and a deep intronic mutation affecting pre-mRNA splicing in the dihydropyrimidine dehydrogenase gene as novel mechanisms causing 5-fluorouracil toxicity.
- Published in:
- Human Genetics, 2010, v. 128, n. 5, p. 529, doi. 10.1007/s00439-010-0879-3
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- Publication type:
- Article
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).
- Published in:
- Human Genetics, 2009, v. 125, n. 5/6, p. 581, doi. 10.1007/s00439-009-0653-6
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- Publication type:
- Article
Children with atopic dermatitis show increased activity of β‐glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.
- Published in:
- British Journal of Dermatology, 2022, v. 186, n. 6, p. 988, doi. 10.1111/bjd.20979
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- Publication type:
- Article
Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy.
- Published in:
- British Journal of Clinical Pharmacology, 2016, v. 81, n. 3, p. 553, doi. 10.1111/bcp.12821
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- Publication type:
- Article
Parents' and healthcare professionals' experiences with the content of an individual care plan for pediatric palliative care: a mixed-method study.
- Published in:
- Palliative Care & Social Practice, 2024, p. 1, doi. 10.1177/26323524241277572
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- Article
Attitudes, Beliefs, and Practices of Integrative Medicine Among Nurses in the Netherlands.
- Published in:
- 2015
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- Publication type:
- Journal Article
The Practical Application of the Individual Care Plan for Pediatric Palliative Care: A Mixed-Method Study.
- Published in:
- Children, 2024, v. 11, n. 8, p. 967, doi. 10.3390/children11080967
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- Publication type:
- Article
Erratum to: Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- 2014
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- Publication type:
- Erratum
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 5, p. 801, doi. 10.1007/s10545-014-9682-y
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- Publication type:
- Article
Patients homozygous for DPYD c.1129-5923C>G/haplotype B3 have partial DPD deficiency and require a dose reduction when treated with fluoropyrimidines.
- Published in:
- 2016
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- Publication type:
- journal article
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.
- Published in:
- International Journal of Cancer, 2018, v. 142, n. 2, p. 424, doi. 10.1002/ijc.31065
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- Publication type:
- Article
Trust in Centralized Large-Scale Data Repository: A Qualitative Analysis.
- Published in:
- Journal of Empirical Research on Human Research Ethics, 2020, v. 15, n. 4, p. 365, doi. 10.1177/1556264619888365
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- Publication type:
- Article
PRegnancy Outcomes after a Maternity Intervention for Stressful EmotionS (PROMISES): study protocol for a randomised controlled trial.
- Published in:
- 2011
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- Publication type:
- journal article
What If Pregnancy Is Not Seventh Heaven? The Influence of Specific Life Events during Pregnancy and Delivery on the Transition of Antenatal into Postpartum Anxiety and Depression.
- Published in:
- International Journal of Environmental Research & Public Health, 2019, v. 16, n. 16, p. 2851, doi. 10.3390/ijerph16162851
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- Publication type:
- Article
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 947, doi. 10.1002/humu.23538
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- Publication type:
- Article
The resilience of Jewish communities living in the diaspora: a scoping review.
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- Frontiers in Psychology, 2023, p. 01, doi. 10.3389/fpsyg.2023.1215404
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- Publication type:
- Article
Dihydropyrimidine Dehydrogenase Deficiency in Two Malaysian Siblings with Abnormal MRI Findings.
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- Molecular Syndromology, 2014, v. 5, n. 6, p. 299, doi. 10.1159/000366074
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- Publication type:
- Article
New advances in DPYD genotype and risk of severe toxicity under capecitabine.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0175998
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- Publication type:
- Article