J.C. Defesche

Statistics

Publications

Citations

310

H-Index

Active since

1990

Affiliations

Amsterdam UMC Location University of Amsterdam(Current)

University of Amsterdam

J.C. Defesche is an author at Amsterdam UMC Location University of Amsterdam specializing in medical genetics, familial hypercholesterolemia, and genetics.

Publications per year

1990–2009

Publications

Low‐density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Kl Khoo, Petra Van Acker, J.C. Defesche et al. · Clinical Genetics · 2000 · 53 citations

Medicine, Genetics, Molecular Genetics +17

The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway

Daniëlla M. Oosterveer, Jorie Versmissen, Mojgan Yazdanpanah et al. · European Heart Journal · 2009 · 50 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Phenotypic Variation in Patients Heterozygous for Familial Defective Apolipoprotein B (FDB) in Three European Countries

Peter S. Hansen, J.C. Defesche, J.J.P. Kastelein et al. · Arteriosclerosis Thrombosis and Vascular Biology · 1997 · 45 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands].

Peter Lansberg, S. Tuzgöl, Marcel A. van de Ree et al. · PubMed · 2000 · 43 citations

Medicine, Cardiology, Clinical Epidemiology +11

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot‐Marie‐Tooth disease) to markers of chromosomes 1 and 17

J.C. Defesche, Jessica E. Hoogendijk, Mandy Visser et al. · Neurology · 1990 · 38 citations

Life Sciences, Genetics, Molecular Genetics +16

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