Research Topics
Species | J C DefescheSummaryAffiliation: Academic Medical Center Country: The Netherlands Publications
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Detail Information
Publications
Defining the challenges of FH screening for familial hypercholesterolemiaJoep C Defesche
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105, AZ, The Netherlands
J Clin Lipidol 4:338-41. 2010..Since the initiation of population screening for FH in 1994 in the Netherlands, a vast amount of experience has been gathered, addressing almost all issues that are encountered in population screening...- Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicingJ C Defesche
Department of Vascular Medicine, Academic Medical Centre at the University of Amsterdam, Amsterdam, The Netherlands
Clin Genet 73:573-8. 2008..Splicing of these alternate splice sites leads to an in-frame 75-base pair deletion in a stable mRNA of exon 4 in case of G186G and R385R resulted in a 31-base pair frame-shift deletion in exon 9 and non-sense-mediated mRNA decay... 
Advanced method for the identification of patients with inherited hypercholesterolemiaJoep C Defesche
Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
Semin Vasc Med 4:59-65. 2004..Here we describe an effective model to identify and bring under treatment large numbers of individuals affected by FH...- Low-density lipoprotein receptor--its structure, function, and mutationsJoep C Defesche
Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, The Netherlands
Semin Vasc Med 4:5-11. 2004..Thus, mutations in the LDL-receptor gene give rise to a substantially varying clinical expression of familial hypercholesterolemia... - Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The NetherlandsM P Lombardi
Department of Vascular Medicine, Academic Medical Centre, Amsterdam, The Netherlands
Clin Genet 57:116-24. 2000.... - Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferaseA G Holleboom
Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
Atherosclerosis 216:161-5. 2011.... - Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemiaP R W de Sauvage Nolting
Department of Vascular Medicine, Academic Medical Center Amsterdam, G1 114, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
J Intern Med 253:161-8. 2003..Patients with familial hypercholesterolaemia (FH) vary widely in terms of onset of cardiovascular disease (CVD)... - The molecular basis of familial hypercholesterolemia in The NetherlandsS W Fouchier
Department of Vascular Medicine G1 112b, Academic Medical Center at the University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
Hum Genet 109:602-15. 2001.... - Review of first 5 years of screening for familial hypercholesterolaemia in the NetherlandsM A Umans-Eckenhausen
Foundation for the Identification of Persons with Inherited Hypercholesterolaemia, Amsterdam, The Netherlands
Lancet 357:165-8. 2001..Our findings could have wider relevance for the screening of other prevalent genetic disorders in the population at large... - The apolipoprotein epsilon4 allele confers additional risk in children with familial hypercholesterolemiaAlbert Wiegman
Emma Children s Hospital Academic Medical Center, University of Amsterdam, The Netherlands
Pediatr Res 53:1008-12. 2003..Moreover, the strong association suggests that apoE4 carries an additional disadvantage for FH children... - Diagnosing familial hypercholesterolaemia: the relevance of genetic testingEmily S van Aalst-Cohen
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
Eur Heart J 27:2240-6. 2006..We therefore set out to determine in these patients whether patients with a DNA diagnosis would differ significantly from those diagnosed clinically... - A functional polymorphism in the glucocorticoid receptor gene and its relation to cardiovascular disease risk in familial hypercholesterolemiaKristel C M C Koeijvoets
Department of Internal Medicine, D435, Erasmus Medical Center, P O Box 2040, 3000 AC Rotterdam, The Netherlands
J Clin Endocrinol Metab 91:4131-6. 2006..Evidence suggests that carriers have a more favorable cardiovascular risk profile, but the relationship between this ER22/23EK variant and cardiovascular disease has not been hitherto assessed... - Lipoprotein lipase gene analyses in one Turkish family and three different Chinese families with severe hypertriglyceridaemia: one novel and several established mutationsMelchior C Nierman
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, The Netherlands, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
J Inherit Metab Dis 29:686. 2006..Finally, we show that two patients homozygous for the LPL gene delCT1312-1313 mutations are characterized by absence of LPL activity that coincides with absence of LPL protein... - Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemiaOlga W Souverein
Department of Clinical Epidemiology, Biostatistics and Bioinformatics, Academic Medical Center, PO Box 22700, 1100 DE Amsterdam, The Netherlands
Eur Heart J 28:299-304. 2007..To investigate the influence of different LDL-receptor (LDLR) gene mutations on age at first cardiovascular event in familial hypercholesterolaemia (FH) patients... - Clinical course of homozygous familial hypercholesterolemia during childhood: report on 4 unrelated patients with homozygous or compound heterozygous mutations in the LDLR geneJolanta Kubalska
Department of Metabolic Diseases, Endocrinology and Diabetology, Children s Memorial Health Institute, Al Dzieci Polskich 20, 04 730 Warszawa, Poland
J Appl Genet 49:109-13. 2008..Multicenter analysis of such persons would finally determine if the early lipid-lowering procedures can significantly reduce the risk of premature cardiovascular disease in homozygous FH... - Familial hypercholesterolemia: current treatment and advances in managementRoeland Huijgen
Academic Medical Center, Department of Vascular Medicine, Meibergreef 9 Room F4 146, 1105 AZ, Amsterdam, The Netherlands
Expert Rev Cardiovasc Ther 6:567-81. 2008..In this review the various treatment options are discussed... - Gene-load score of the renin-angiotensin-aldosterone system is associated with coronary heart disease in familial hypercholesterolaemiaJeroen B van der Net
Department of Internal Medicine D435, Erasmus MC, University Medical Center, PO Box 2040, 3000 CA Rotterdam, The Netherlands
Eur Heart J 29:1370-6. 2008..We investigated the association between CHD risk and combined genetic variation in the RAAS and adrenalin/noradrenalin system... 
Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemiaJeroen B van der Net
Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands
Eur Heart J 29:2195-201. 2008..We performed a replication study of 10 polymorphisms and CHD in a population with familial hypercholesterolemia (FH), individuals at extreme risk of CHD...- The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famineSusanne R de Rooij
Academic Medical Centre, Department of Clinical Epidemiology and Biostatistics, Room nr J1B 210 1, Meibergdreef 9, P O Box 22660, 1100 DD, Amsterdam, Netherlands
Diabetes Care 29:1052-7. 2006..In the present study, we assessed a possible interaction of the peroxisome proliferator-activated receptor (PPAR)-gamma2 Pro12Ala polymorphism with prenatal exposure to famine on glucose and insulin metabolism... - Update of the molecular basis of familial hypercholesterolemia in The NetherlandsSigrid W Fouchier
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Hum Mutat 26:550-6. 2005.... - Identification of a new mutation, S305C, in exon 7 of the low-density lipoprotein receptor gene in a Brazilian family with homozygous familial hypercholesterolemiaLaura van de Kerkhof
Department of Vascular Medicine of the Academic Medical Center at the University of Amsterdam, 1100 DE Amsterdam, The Netherlands
Genet Test 7:77-9. 2003..S305C was inherited from the proband's mother, who was of Italian descent. The occurrence of LDL receptor gene mutations of Lebanese and Italian origin in Brazil underlines the genetic heterogeneity of the Brazilian population... - Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening populationMarina A W Umans-Eckenhausen
Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
Circulation 106:3031-6. 2002..Multivariate analyses with adjustment for age, sex, and specific family ties were performed... - Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The NetherlandsDavid Wonderling
Cancer and Public Health Unit and Health Services Research Unit, London School of Hygiene and Tropical Medicine, London, United Kingdom
Semin Vasc Med 4:97-104. 2004..Cost per life-year gained was US dollars 8700. Therefore, systematic genetic screening of family members of persons diagnosed with FH is cost-effective in The Netherlands and should be considered for other settings... - Genetic determinants of cardiovascular disease risk in familial hypercholesterolemiaAngelique C M Jansen
Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
Arterioscler Thromb Vasc Biol 25:1475-81. 2005..To investigate the contribution of polymorphisms in multiple candidate genes to cardiovascular disease (CVD) risk in a large cohort of patients with heterozygous familial hypercholesterolemia (FH)... - Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of riskSigrid W Fouchier
Department of Vascular Medicine, Academic Medical Center at the University of Amsterdam, 1100 DD Amsterdam, The Netherlands
Semin Vasc Med 4:259-64. 2004..However, FDB patients are still exposed to a substantially higher CAD risk compared with unaffected relatives... - Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 productionJohn S Millar
Department of Medicine, University of Pennsylvania, 644 BRB II III, 421 Curie Blvd, Philadelphia, PA 19104, USA
Arterioscler Thromb Vasc Biol 25:560-5. 2005..We addressed the role of the low-density lipoprotein (LDL) receptor in determining clearance rates and production rate (PR) of apolipoprotein B (apoB) in humans... - Effect of low-density lipoprotein receptor mutation on lipoproteins and cardiovascular disease risk: a parent-offspring studyKristel C M C Koeijvoets
Department of Internal Medicine, Erasmus Medical Centre D435, P O Box 2040, 3000 AC Rotterdam, The Netherlands
Atherosclerosis 180:93-9. 2005..Nonetheless, a specific LDL receptor mutation was associated with less deteriorated lipoprotein levels and a milder CVD risk... - Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemiaEmily S van Aalst-Cohen
Department of Vascular Medicine, Academic Medical Center, Amsterdam, The Netherlands
Eur J Hum Genet 13:1137-42. 2005.... - Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemiaJeroen B van der Net
Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands
J Hypertens 26:462-7. 2008..Therefore, we analyzed the angiotensinogen gene as a modifier gene for coronary heart disease risk in patients with familial hypercholesterolemia... - Phenotypic variability in familial hypercholesterolaemia: an updateAngelique C M Jansen
Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Curr Opin Lipidol 13:165-71. 2002..The present review discusses recent developments in this field... - Long-term compliance with lipid-lowering medication after genetic screening for familial hypercholesterolemiaMarina A W Umans-Eckenhausen
Foundation for the Identification of Persons With Inherited Hypercholesterolemia and Department of Vascular Medicine, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Arch Intern Med 163:65-8. 2003..This underscores the fact that additional education is required to improve the treatment of individuals with familial hypercholesterolemia... - Family history and cardiovascular risk in familial hypercholesterolemia: data in more than 1000 childrenAlbert Wiegman
Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
Circulation 107:1473-8. 2003..05). CONCLUSIONS: In FH families, LDL-C levels allow accurate diagnosis of FH in childhood. Moreover, increased LDL-C and lipoprotein(a) and decreased HDL-C levels in children identify FH kindreds with the highest CVD risk... - High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutationsKhemanganee E Liyanage
School of Surgery and Pathology, University of Western Australia, Perth, Australia
Ann Clin Biochem 45:170-6. 2008..FDB cannot be clinically distinguished from heterozygous LDL-receptor-defective familial hypercholesterolaemia (FH) without genetic testing...