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Results: 1-10 |
Results: 10
Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study
Authors: Sijbrands, EJG Westendorp, RGJ Defesche, JC de Meier, PHEM Smelt, AHM Kastelein, JJP
Citation: Ejg. Sijbrands et al., Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study, BR MED J, 322(7293), 2001, pp. 1019-1022
Molecular genetics and gene expression in atherosclerosis
Authors: Doevendans, PA Jukema, W Spiering, W Defesche, JC Kastelein, JJP
Citation: Pa. Doevendans et al., Molecular genetics and gene expression in atherosclerosis, INT J CARD, 80(2-3), 2001, pp. 161-172
Results from a family and DNA based active identification programme for familial hypercholesterolaemia
Authors: ten Asbroek, AHA Marang-van de Mheen, PJ Defesche, JC Kastelein, JJP Gunning-Schepers, LJ
Citation: Aha. Ten Asbroek et al., Results from a family and DNA based active identification programme for familial hypercholesterolaemia, J EPIDEM C, 55(7), 2001, pp. 500-502
Familial hypercholesterolaemia - Reply
Authors: Umans-Eckenhausen, MAW Defesche, JC Sijbrands, EGJ Kastelein, JJP
Citation: Maw. Umans-eckenhausen et al., Familial hypercholesterolaemia - Reply, LANCET, 357(9269), 2001, pp. 1712-1712
Review of first 5 years of screening for familial hypercholesterolaemia inthe Netherlands
Authors: Umans-Eckenhausen, MAW Defesche, JC Sijbrands, EJG Scheerder, RLJM Kastelein, JJP
Citation: Maw. Umans-eckenhausen et al., Review of first 5 years of screening for familial hypercholesterolaemia inthe Netherlands, LANCET, 357(9251), 2001, pp. 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 incidence among Ashkenazi Jews
Authors: Durst, R Colombo, R Shpitzen, S Ben Avi, L Friedlander, Y Wexler, R Raal, FJ Marais, DA Defesche, JC Mandelshtam, MY Kotze, MJ Leitersdorf, E Meiner, V
Citation: R. Durst et al., Recent origin and spread of a common Lithuanian mutation, G197del LDLR, causing familial hypercholesterolemia: Positive selection is not always necessary to account for disease incidence among Ashkenazi Jews, AM J HU GEN, 68(5), 2001, pp. 1172-1188
Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia
Authors: Khoo, KL van Acker, P Defesche, JC Tan, H van de Kerkhof, L Heijnen-van Eijk, SJ Kastelein, JJP Deslypere, JP
Citation: Kl. Khoo et al., Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia, CLIN GENET, 58(2), 2000, pp. 98-105
Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands
Authors: Lombardi, MP Redeker, EJW Defesche, JC Kamerling, SWA Trip, MD Mannens, MMAM Havekes, LM Kastelein, JJP
Citation: Mp. Lombardi et al., Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands, CLIN GENET, 57(2), 2000, pp. 116-124
A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia
Authors: Wittekoek, ME Moll, E Pimstone, SN Trip, MD Lansberg, PJ Defesche, JC van Doormaal, JJ Hayden, MR Kastelein, JJP
Citation: Me. Wittekoek et al., A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia, ART THROM V, 19(11), 1999, pp. 2708-2713
Familial hypercholesterolemia. Acceptor splice site (G -> C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061(-1) G -> C]
Authors: Yu, L Heere-Ress, E Boucher, B Defesche, JC Kastelein, J Lavoie, MA Genest, J
Citation: L. Yu et al., Familial hypercholesterolemia. Acceptor splice site (G -> C) mutation in intron 7 of the LDL-R gene: alternate RNA editing causes exon 8 skipping or a premature stop codon in exon 8. LDL-RHonduras-1 [LDL-R1061(-1) G -> C], ATHEROSCLER, 146(1), 1999, pp. 125-131
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