foto

J.C. Defesche MEng PhD

Position
MD-PhD
Main activities
Patient care
Specialisation
genetic basis of atherogenesis
Focus of research

 cardiovascular genetics

Key publications
  • Sorrentino Vincenzo, Fouchier Sigrid W., Motazacker Mohammad M., Nelson Jessica K., Defesche Joep C., Dallinga-Thie Geesje M., Kastelein John J. P., Kees Hovingh G., Zelcer Noam Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein European heart journal 2013;34 (17):1292-1297 [PubMed]
  • Huijgen Roeland, Kindt Iris, Defesche Joep C., Kastelein John J. P. 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 European heart journal 2012;33 (18):2325-2330 [PubMed]
  • van der Graaf Anouk, Avis Hans J., Kusters D. Meeike, Vissers Maud N., Hutten Barbara A., Defesche Joep C., Huijgen Roeland, Fouchier Sigrid W., Wijburg Frits A., Kastelein John J. P., Wiegman Albert Molecular Basis of Autosomal Dominant Hypercholesterolemia Assessment in a Large Cohort of Hypercholesterolemic Children Circulation 2011;123 (11):1167-1173 [PubMed]
  • Versmissen Jorie, Oosterveer Daniëlla M., Yazdanpanah Mojgan, Defesche Joep C., Basart Dick C. G., Liem Anho H., Heeringa Jan, Witteman Jacqueline C., Lansberg Peter J., Kastelein John J. P., Sijbrands Eric J. G. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study BMJ (Clinical research ed.) 2008;337:a2423 [PubMed]
  • Huijgen R., Stork A. D. M., Defesche J. C., Peter J., Alonso R., Cuevas A., Kastelein J. J. P., Duran M., Stroes E. S. G. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis Clinical genetics 2012;81 (1):24-28 [PubMed]
All Publications
Research programmes

Prof. J.J.P. Kastelein MD PhD (Vascular Medicine)

J.C. Defesche MEng PhD (Promoties)

PhD Students
D.M. Oosterveer MD PhD
J. Versmissen MD PhD