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Ir. J.C. Defesche PhD

Position
Scientific staff member (UD)
Main activities
Patient care
Specialisation
genetic basis of atherogenesis
Focus of research

 cardiovascular genetics

Key publications
  • Sorrentino V, Fouchier SW, Motazacker MM, Nelson JK, Defesche JC, Dallinga-Thie GM, Kastelein JJP, Kees Hovingh G, Zelcer N, Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein. EUR HEART J 2013;34 (17):1292-1297 [PubMed]
  • Huijgen R, Kindt I, Defesche JC, Kastelein JJP, Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants. EUR HEART J 2012;33 (18):2325-2330 [PubMed]
  • van der Graaf A, Avis HJ, Kusters DM, Vissers MN, Hutten BA, Defesche JC, Huijgen R, Fouchier SW, Wijburg FA, Kastelein JJP, Wiegman A, Molecular Basis of Autosomal Dominant Hypercholesterolemia Assessment in a Large Cohort of Hypercholesterolemic Children. CIRCULATION 2011;123 (11):1167-1173 [PubMed]
  • Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DCG, Liem AH, Heeringa J, Witteman JC, Lansberg PJ, Kastelein JJP, Sijbrands EJG, Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ-BRIT MED J 2008;337:a2423 [PubMed]
  • Huijgen R, Stork ADM, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJP, Duran M, Stroes ESG, Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis. CLIN GENET 2012;81 (1):24-28 [PubMed]
All Publications