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Publicaties van de sectie Moleculaire Diagnostiek van het Laboratorium Experimentele Vasculaire Geneeskunde van het Academisch Medisch Centrum vanaf 2000
2007 2006 2005 2004 2003 2002 2001 2000
Influence of LDL-receptor mutation type on age of onset of cardiovascular events in patients with familial hypercholesterolaemia. O.W. Souverein, J.C. Defesche, A.H. Zwinderman, J.J.P. Kastelein, M.W.T. Tanck. Eur Heart Journal. 2007; 28: 299-304.
The discrete and combined effect of SREBP-2 and SCAP isoforms in the control of plasma lipids among familial hypercholesterolaemia patients. R. Durst, A. Jansen G. Erez, R. Bravdo, E. Butbul, L. Ben Avi, S. Shpitzen, C. Lotan, E. Leitersdorf, J Defesche, Y. Friedlander, V. Meiner A. R. Miserez. Atherosclerosis 2006; 189:443-450.
A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in Familial Hypercholesterolemia. K.C.M.C. Koeijvoets, E.F.C. van Rossum, G.M. Dallinga-Thie, E.W. Steyerberg, J.C. Defesche, J.J.P. Kastelein, S.W.J. Lamberts, E.J.G. Sijbrands. J Clin Endocrinol Metab. 2006; 91:4131-4136.
Diagnosing familial hypercholesterolemia: the relevance of genetic testing. E.S. van Aalst-Cohen, A.C.M. Jansen, M.W.T. Tanck, J.C. Defesche, M.D. Trip, P.J. Lansberg, A.F.H. Stalenhoef, J.J.P. Kastelein. Eur Heart J 2006; 18 :2240-2246.
Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: One novel and several established mutations. M.C. Nierman, J. Peter, K.L. Khoo, J.C. Defesche. J Inher Metabol Dis 2006; 29: 686-693.
Genetic determinants of plasma HDL-cholesterol levels in Familial Hypercholesterolemia. E.S. van Aalst-Cohen, A.C. Jansen, S.M. Boekholdt, M.W. Tanck, M.R. Fontecha, S. Cheng, J.Li, J.C. Defesche, J.A. Kuivenhoven, J.J.P. Kastelein. Eur J Hum Genet. 2005; 10: 1137-1142.
Management of hereditary dyslipidemia; the paradigm of Autosomal Dominant Hypercholesterolemia. S.W. Fouchier, J. Rodenburg, J.J.P. Kastelein, J.C. Defesche. Eur J Hum Genet. 2005; 11: 1-7
Update of the molecular basis of Familial Hypercholesterolemia in The Netherlands. S.W. Fouchier, J.J.P. Kastelein,J.C. Defesche. Hum Mut 2005; 26: 550-556.
What promise does PCSK9 hold? J.J.P. Kastelein , S.W. Fouchier, J.C. Defesche.
J Am Coll Cardiol. 2005; 45: 1620-1621.
Genetic Determinants of Cardiovascular Disease Risk in Familial Hypercholesterolemia Arteriosclerose. A.C. Jansen, E.S. van Aalst-Cohen, M.W. Tanck, S. Chen, M.R. Fontecha, J. Li, J.C. Defesche, J.J.P. Kastelein . Thromb Vasc Biol. 2005 May 5; [Epub ahead of print] PMID: 15879303.
Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring study.K.C. Koeijvoets, A. Wiegman, J. Rodenburg, J.C. Defesche, J.J.P. Kastelein, E.J. Sijbrands. Atherosclerosis. 2005; 180(1): 93-99.
High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent.S.W. Fouchier, R.R. Sankatsing, J. Peter, S. Castillo, M. Pocovi, R. Alonso, J.J.P. Kastelein, J.C. Defesche. J Med Genet. 2005 Apr;42(4):e23. PMID: 15805152.
Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production. J.S. Millar, C. Maugeais, K. Ikewaki, D.M. Kolansky,P,.H. Barrett, E.C. Budreck, R.C. Boston, N. Tada,, S. Mochizuki, J.C. Defesche, J.M. Wilson, D.J. Rader. Arterioscler Thromb Vasc Biol. 2005; 25(3):560-565.
The low-density lipoprotein receptor, its structure, function and mutations. J.C. Defesche. Semin Vasc Med 2004; 4: 5-13.
Advanced method for the identification of patients with inherited hypercholesterolemia. J.C. Defesche, P.J. Lansberg, M.A.W. Umans-Eckenhausen, J.J.P. Kastelein. Semin Vasc Med 2004; 4: 59-67.
A cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in the Netherlands. D. Wonderling, M. A.W. Umans-Eckenhausen, D. Marks, J.C. Defesche, J.J.P. Kastelein, M. Thorogood. Semin Vasc Med 2004; 4: 97-104.
Guidelines for the diagnosis and management of heterozygous familial hypercholesterolemia. International Panel on Management of Familial Hypercholesterolemia. Atherosclerosis 2004; 173: 55-68.
Familial Defective Apolipoprotein B versus familial Hypercholesterolemia: an assessment of risk. S.W. Fouchier, E.J.G. Sijbrands, J.J.P. Kastelein, J.C. Defesche. Semin Vasc Med 2004;4: 259-265.
Lipoproteins and Atherosclerosis. J.C. Defesche and J.J.P. Kastelein. In: Cardiovascular Long term compliance to lipid lowering medication after genetic screening for Familial hypercholesterolemia. M.A.W. Umans-Eckenhausen, J.C. Defesche, M.J. van Dam, J.J.P. Kastelein. Arch Int Med 2003; 163: 65-68
Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolemia. P.R.W. de Sauvage Nolting, J.C. Defesche, R.J.A. Buirma, B.A. Hutten, P.J. Lansberg, J.J.P. Kastelein. J Int Med 2003; 253: 161-168.
Family history and cardiovascular risk in Familial Hypercholesterolemia: data in more than 1000 children. A. Wiegman, J. Rodenburg, S. De Jongh, J.C. Defesche, H.D. Bakker, J.J.P. Kastelein, E.J.G. Sijbrands. Circulation 2003; 107: 1473-1478.
Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemia. L. van de Kerkhof, S.J. van Eijk, J.C. Defesche, J. E. Dos-Santos. Genetic Testing 2003; 7: 77-79.
The apolipoprotein E4 allele confers additional risk in children with Familial Hypercholesterolemia. A. Wiegman, E.J.G. Sijbrands, J. Rodenburg, J.C. Defesche, S. de Jongh, H.D. Bakker, J.J.P. Kastelein. Pediatr Res 2003; 107:1473-1478.
Allelic variation in the promoter region of the LDL receptor gene: analysis of an African-specific variant in the FP2 cis-acting regulatory element. C.F. Hoogendijk, C.L. Scholtz, S.M. Pimstone, E. Ehrenborg, J.J.P. Kastelein, J.C. Defesche, R. Thiart, L. du Plessis, J.N. de Villiers, M.G. Zaahl, R. Delport, D.C.Rubinsztein, L.J. Raffel, C.E. Grim, S. Mediene-Benchekor, P. Amouyel, T. Brousseau, K. Steyn, C.J. Lombard, M.R. Hayden, M.J.Kotze. Mol Cell Probes 2003; 17(4):175-181.
Genetics for Clinicians. Eds: P.A. Doevendans and A.A.M. Wilde. Kluwer Academic Publishers 2002; pp. 51-58.
Phenotypic variability in familial hypercholesterolemia: an update. A.C.M. Jansen, S. Van Wissen, J.C. Defesche, J.J.P. Kastelein. Curr Opinion Lipidol. 2002; 13: 165-171.
Parental attitude towards genetic testing for familial hypercholesterolemia in children. M.A.W. Umans-Eckenhausen, F.J. Oort, K.C.M.P. Ferenschild, J.C. Defesche, J.J.P. Kastelein, J.C.J.M. de Haes. J Med Genet 2002: 39: e49.
Low-Density Lipoprotein-receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. M.A.W. Umans-Eckenhausen, E.J.G. Sijbrands, J.J.P. Kastelein, J.C. Defesche. Circulation 2002; 106:3031-3036.
The molecular basis of Familial Hypercholesterolemia in the Netherlands. S.W Fouchier, J.C Defesche, M.A.W. Umans-Eckenhausen, J.J.P Kastelein. Hum Genet 2001; 109: 602-615.
Review of the first 5 years of screening for familial hypercholesteroleamia in the Netherlands:. M.A.W. Umans-Eckenhausen, J.C. Defesche, E.G.J. Sijbrands, R.L.J.M. Scheerder, J.J.P. Kastelein. The Lancet 2001; 357:165-168.
Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing Familial Hypercholesterolemia: positive selection is not always necessary to account for disease among Ashkenazi Jews. R. Durst, R. Colombo, S. Shpitzen, L. Ben Avi, Y. Friedlander, R. Wexler, F. Raal, D.A. Marais, J.C. Defesche, M.Y. Mandelshtam, M.J. Kotze, H.H. Hobbs, E.Leitersdorf, V. Meiner. Am J Hum Genet 2001; 68: 1172-1188.
Mortality over two centuries in a large pedigree with familial hypercholesterolaemia: family tree mortality study. E.J.G. Sijbrands, R.G.J. Westendorp, J.C. Defesche, P.H.E.M. de Meijer, A.H.M. Smelt, J.J.P. Kastelein. Br Med J 2001; 322: 1019-1022.
Results from a family and DNA based active identification programme for Familial Hypercholesterolemia. A.H.A ten Asbroek, P.J. Marang-van de Mheen, J.C. Defesche, J.J.P. Kastelein, L.J. Gunning-Schepers. J Epidemiol Community Health. 2001; 55(7): 500-502.
Global Perspectives of Familial Hypercholesterolemia. S.W. Fouchier, J.C. Defesche, J.J.P. Kastelein. Community Genetics 2001; 4: 61-67.
Molecular genetics and gene expression in atherosclerosis. P.A. Doevendans, W. Jukema, W. Spierings, J.C. Defesche, J.J.P. Kastelein. Int J Cardiol 2001; 80: 161-172.
Molecular genetic testing for Familial Hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands. M.P.R. Lombardi, E.J.W. Redeker, J.C. Defesche, S.W.A. Kamerling, M. M.A.M. Mannens, L. M. Havekes, J.J.P. Kastelein. Clin Genet 2000; 57: 116-124.
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. K.L. Khoo, P. van Acker, J.C. Defesche, H. Tan, L. van de Kerkhof, S.J. Heijnen-van Eijk, J.J.P. Kastelein, P.P. Deslypere. Clin Genet 2000; 58: 98-105.
Familial Hypercholesterolemia: factors affecting phenotypic expression. J.C. Defesche, P.W.R. de Sauvage Nolting, J.J.P. Kastelein. Atherosclerosis XII. S. Stenne, A.G. Olson (eds.); p. 278, 2000; Elsevier, Amsterdam.
Prevalentie van familiaire hypercholesterolemie onder volwassenen in vier huisartsenpraktijken hoger dan werd aangenomen. P.J. Lansberg, S. Tuzgöl, M.A. van de Ree, J.C. Defesche, J.J.P. Kastelein. Ned Tijdschr Geneesk 2000; 144: 1437-1440.