Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency

Autor: W. Kroes, Noorduyn A, van den Berg H, de Jong D, van Kuilenburg Ab

Publikováno v: Leukemia, 14(4), 769-770. Nature Publishing Group

Leukaemic expression of anaplastic large cell lymphoma with 46,XX,ins(2;5)(p23;q15q35) in a child with dihydropyrimidine dehydrogenase deficiency

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba355535ba4c5010bf53fd5792bbcb2d
https://pure.amc.nl/en/publications/leukaemic-expression-of-anaplastic-large-cell-lymphoma-with-46xxins25p23q15q35-in-a-child-with-dihydropyrimidine-dehydrogenase-deficiency(941c6f9d-4210-437f-9ec6-be4a1eb9c58a).html

Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.

Evaluation of 5-fluorouracil pharmacokinetics in cancer patients with a c.1905+1G>A mutation in DPYD by means of a Bayesian limited sampling strategy.

Autor: van Kuilenburg AB, Häusler P, Schalhorn A, Tanck MW, Proost JH, Terborg C, Behnke D, Schwabe W, Jabschinsky K, Maring JG, van Kuilenburg, André B P, Häusler, Peter, Schalhorn, Andreas, Tanck, Michael W T, Proost, Johannes H, Terborg, Christoph, Behnke, Detlev, Schwabe, Wolfgang, Jabschinsky, Kati, Maring, Jan Gerard

Publikováno v: Clinical Pharmacokinetics; 2012, Vol. 51 Issue 3, p163-174, 12p

Yunis-Varón syndrome caused by biallelic VAC14 mutations.

Autor: Lines MA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Ito Y; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Kernohan KD; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Mears W; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Hurteau-Miller J; University of Ottawa, Ottawa, Ontario, Canada.; Department of Diagnostic Imaging, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Venkateswaran S; University of Ottawa, Ottawa, Ontario, Canada.; Division of Neurology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Ward L; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Khatchadourian K; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pediatric Endocrinology, Department of Pediatrics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., McClintock J; Division of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Bhola P; University of Ottawa, Ottawa, Ontario, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., Campeau PM; Department of Pediatrics, CHU Sainte Justine, Montréal, Québec, Canada.; Department of Pediatrics, University of Montréal, Montréal, Québec, Canada., Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada., Michaud J; University of Ottawa, Ottawa, Ontario, Canada.; Division of Pathology, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada., van Kuilenburg AB; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Ferdinandusse S; Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, Amsterdam, The Netherlands., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; University of Ottawa, Ottawa, Ontario, Canada.; Department of Biochemistry, Microbiology and Immunology, University of Ottawa, Ottawa, Canada.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2017 Sep; Vol. 25 (9), pp. 1049-1054. Date of Electronic Publication: 2017 Jun 21.

Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.

Autor: van Kuilenburg AB; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands. Electronic address: a.b.vankuilenburg@amc.uva.nl., Meijer J; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Maurer D; Uppsala University, Department of Chemistry, Biomedical Center, S-751 24 Uppsala, Sweden., Dobritzsch D; Uppsala University, Department of Chemistry, Biomedical Center, S-751 24 Uppsala, Sweden., Meinsma R; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Los M; St. Antonius Hospital, Department of Oncology, Nieuwegein, The Netherlands., Knegt LC; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Zoetekouw L; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands., Jansen RL; Maastricht University Medical Center, Department of Oncology, Maastricht, The Netherlands., Dezentjé V; Reinier de Graaf Gasthuis, Department of Clinical Oncology, Delft, The Netherlands., van Huis-Tanja LH; Diakonessenhuis Utrecht, Department of Oncology, Utrecht, The Netherlands., van Kampen RJ; Zuyderland Medical Center, Department of Oncology, Sittard-Geleen, The Netherlands., Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense C, Denmark., Hennekam RC; Academic Medical Center, University of Amsterdam, Emma Children's Hospital, Departments of Clinical Chemistry, Pediatrics and Clinical Genetics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands.

Publikováno v: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2017 Mar; Vol. 1863 (3), pp. 721-730. Date of Electronic Publication: 2016 Dec 24.