Search Results - "Defesche, J C"

Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia by Reijman, M.D., Defesche, J.C., Wiegman, A.

“…Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature…”
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Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis by Huijgen, R, Stork, ADM, Defesche, JC, Peter, J, Alonso, R, Cuevas, A, Kastelein, JJP, Duran, M, Stroes, ESG

“…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…”
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Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase by Holleboom, A.G, Kuivenhoven, J.A, van Olden, C.C, Peter, J, Schimmel, A.W, Levels, J.H, Valentijn, R.M, Vos, P, Defesche, J.C, Kastelein, J.J.P, Hovingh, G.K, Stroes, E.S.G, Hollak, C.E.M

“…Abstract Introduction Familial lecithin:cholesterol acyltransferase (LCAT) deficiency (FLD) is a rare recessive disorder of cholesterol metabolism…”
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Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia by De Sauvage Nolting, P. R. W., Defesche, J. C., Buirma, R. J. A., Hutten, B. A., Lansberg, P. J., Kastelein, J. J. P.

“…  de Sauvage Nolting PRW, Defesche JC, Buirma RJA, Hutten BA, Lansberg PJ, Kastelein JJP (Academic Medical Center, Amsterdam; Clinical Research, Haarlem;…”
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Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing by Defesche, JC, Schuurman, EJM, Klaaijsen, LN, Khoo, KL, Wiegman, A, Stalenhoef, AFH

“…In a large group of patients with the clinical phenotype of familial hypercholesterolemia, such as elevated low‐density lipoprotein (LDL) cholesterol and…”
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APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required by VISSER, M. E, DALLINGA-THIE, G. M, PINTO-SIETSMA, S. J, DEFESCHE, J. C, STROES, E. S, DER VALK, P. R Van

“…We present the case of a patient with clinical features of familial dysbetalipoproteinaemia (FD) including high levels of total cholesterol,…”
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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia by Surendran, R. P., Visser, M. E., Heemelaar, S., Wang, J., Peter, J., Defesche, J. C., Kuivenhoven, J. A., Hosseini, M., Péterfy, M., Kastelein, J. J. P., Johansen, C. T., Hegele, R. A., Stroes, E. S. G., Dallinga-Thie, G. M.

“…  Surendran RP, Visser ME, Heemelaar S, Wang J, Peter J, Defesche JC, Kuivenhoven JA, Hosseini M, Péterfy M, Kastelein JJP, Johansen CT, Hegele RA, Stroes…”
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High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent by Fouchier, S W, Sankatsing, R R, Peter, J, Castillo, S, Pocovi, M, Alonso, R, Kastelein, J J P, Defesche, J C

“…Background: Familial hypobetalipoproteinaemia (FHBL) is an autosomal co-dominant hereditary disorder of lipoprotein metabolism characterised by decreased low…”
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Efficacy of statins in familial hypercholesterolaemia: a long term cohort study by 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

“…Objective To determine the efficacy of statin treatment on risk of coronary heart disease in patients with familial hypercholesterolaemia.Design Cohort study…”
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Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia by Khoo, Kl, Van Acker, P, Defesche, Jc, Tan, H, Van De Kerkhof, L, Heijnen-van Eijk, Sj, Kastelein, Jjp, Deslypere, Jp

“…The aim of this study was to detect mutations in the genes coding for the low‐density lipoprotein receptor and apolipoprotein B in patients of Southeast Asian…”
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Results from a family and DNA based active identification programme for familial hypercholesterolaemia by ten Asbroek, A H A, de Mheen, P J Marang-van, Defesche, J C, Kastelein, J J P, Gunning-Schepers, L J

“…From the perspective of the screening programme, the screenees that are already treated cannot be considered as new cases and they do not benefit from the…”
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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 by Oosterveer, Daniëlla M., Versmissen, Jorie, Yazdanpanah, Mojgan, Defesche, Joep C., Kastelein, John J.P., Sijbrands, Eric J.G.

“…Aims The presence of tendon xanthomas is a marker of high risk of cardiovascular disease (CVD) among patients with familial hypercholesterolaemia (FH)…”
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A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia by WITTEKOEK, M. E, PIMSTONE, S. N, REYMER, P. W. A, FEUTH, L, BOTMA, G.-J, DEFESCHE, J. C, PRINS, M, HAYDEN, M. R, KASTELEIN, J. J. P

“…Recently, a mutation in the lipoprotein lipase (LPL) gene (N291S) has been reported in 2% to 5% of individuals in western populations and is associated with…”
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Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations by Chmara, M, Wasag, B, Zuk, M, Kubalska, J, Wegrzyn, A, Bednarska-Makaruk, M, Pronicka, E, Wehr, H, Defesche, J C, Rynkiewicz, A, Limon, J

“…Autosomal dominant hypercholesterolemia (ADH) is caused by mutations in the genes coding for the low-density lipoprotein receptor (LDLR), apolipoprotein B-100…”
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Phenotypic Variation in Patients Heterozygous for Familial Defective Apolipoprotein B (FDB) in Three European Countries by Hansen, P.S, Defesche, J.C, Kastelein, J.J.P, Gerdes, L.U, Fraza, L, Gerdes, C, Tato, F, Jensen, H.K, Jensen, L.G, Klausen, I.C, Faergeman, O, Schuster, H

“…A glutamine-for-arginine substitution at amino acid position 3500 of apolipoprotein B (apo B) causes synthesis of LDL with reduced binding affinity to the LDL…”
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Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes by Kusters, D. M., Huijgen, R., Defesche, J. C., Vissers, M. N., Kindt, I., Hutten, B. A., Kastelein, J. J. P.

“…Background In the Netherlands, a screening programme was set up in 1994 in order to identify all patients with familial hypercholesterolaemia (FH). After…”
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A Frequent Mutation in the Lipoprotein Lipase Gene (D9N) Deteriorates the Biochemical and Clinical Phenotype of Familial Hypercholesterolemia by Wittekoek, Marianne E, Moll, Etelka, Pimstone, Simon N, Trip, Mieke D, Lansberg, Peter J, Defesche, Joep C, van Doormaal, Jasper J, Hayden, Michael R, Kastelein, John J.P

“…The D9N substitution is a common mutation in the lipoprotein lipase (LPL) gene. This mutation has been associated with reduced levels of HDL cholesterol and…”
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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands by Lombardi, M Paola, Redeker, Egbert Jw, Defesche, Joep C, Kamerling, Sylvia Wa, Trip, Mieke D, Mannens, Marcel Mam, Havekes, Louis M, Kastelein, John Jp

“…Mutations in the LDL receptor are responsible for familial hypercholesterolemia (FH). At present, more than 600 mutations of the LDL receptor gene are known to…”
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Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands by Umans-Eckenhausen, Marina AW, Defesche, Joep C, Sijbrands, Eric JG, Scheerder, Robert LJM, Kastelein, John JP

“…Familial hypercholesterolaemia is a common lipid disorder that predisposes for premature cardiovascular disease (CVD). We set up a screening programme in the…”
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Molecular epidemiology of familial hypercholesterolaemia by Defesche, Joep C, Kastelein, John JP

“…Defesche and Kastelein believe that the important issue is whether the prevalence of familial hypercholesterolemia is increased in areas for which LDL-receptor…”
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