Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.

PubWeight™: 1.00‹?› | Rank: Top 15%

🔗 View Article (PMID 21475731)

Published in Neth Heart J on January 27, 2011

Authors

D M Kusters, R Huijgen, J C Defesche, M N Vissers, I Kindt, B A Hutten, J J P Kastelein

Articles cited by this

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat (2000) 13.25

Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database. Ann Hum Genet (2008) 2.05

Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia. J Lipid Res (1990) 1.90

Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol (2004) 1.61

[Genetic identification of patients and families with a long-QT syndrome: large regional differences in the result of 10 years]. Ned Tijdschr Geneeskd (2007) 1.46

Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Hum Mutat (2005) 1.23

The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet (2001) 1.22

Familial hypercholesterolemia: current treatment and advances in management. Expert Rev Cardiovasc Ther (2008) 1.18

Evaluation of the Cholestech L.D.X. desktop analyser for cholesterol, HDL-cholesterol, and triacylglycerols in heparinized venous blood. Eur J Clin Chem Clin Biochem (1994) 1.18

Two years after molecular diagnosis of familial hypercholesterolemia: majority on cholesterol-lowering treatment but a minority reaches treatment goal. PLoS One (2010) 1.14

Familial hypercholesterolemia in the Finnish north Karelia. A molecular, clinical, and genealogical study. Arterioscler Thromb Vasc Biol (1997) 1.10

Low-density lipoprotein receptor gene mutations and cardiovascular risk in a large genetic cascade screening population. Circulation (2002) 1.03

Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands. Semin Vasc Med (2004) 0.95

Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations. Hum Genet (1996) 0.94

South African founder mutations in the low-density lipoprotein receptor gene causing familial hypercholesterolemia in the Dutch population. Hum Genet (1993) 0.91

Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia. Hum Mutat (2010) 0.90

[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands]. Ned Tijdschr Geneeskd (2000) 0.90

The molecular basis and diagnosis of familial hypercholesterolaemia in South African Afrikaners. Ann Hum Genet (1991) 0.90

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet (2000) 0.87

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population. Atherosclerosis (2002) 0.86

Molecular genetic evidence for a founder effect in familial hypercholesterolemia among French Canadians. Hum Genet (1992) 0.84

Origin and migration of an Afrikaner founder mutation FHAfrikaner-2 (V408M) causing familial hypercholesterolemia. Gene Geogr (1996) 0.82

Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia. Atherosclerosis (2009) 0.77

Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100. Genomics (1997) 0.76

Articles by these authors

Frequency of pregnancy-related venous thromboembolism in anticoagulant factor-deficient women: implications for prophylaxis. Ann Intern Med (1996) 3.42

Cholesteryl ester transfer protein TaqIB variant, high-density lipoprotein cholesterol levels, cardiovascular risk, and efficacy of pravastatin treatment: individual patient meta-analysis of 13,677 subjects. Circulation (2005) 2.77

Oral anticoagulation self-management and management by a specialist anticoagulation clinic: a randomised cross-over comparison. Lancet (2000) 2.49

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands. Lancet (2001) 2.45

Prediction of the risk of bleeding during anticoagulant treatment for venous thromboembolism. Arch Intern Med (1999) 2.00

Differential effect of the rs4149056 variant in SLCO1B1 on myopathy associated with simvastatin and atorvastatin. Pharmacogenomics J (2011) 1.60

Comparison of effect of cafetière and filtered coffee on serum concentrations of liver aminotransferases and lipids: six month randomised controlled trial. BMJ (1996) 1.49

Molecular genetics and gene expression in atherosclerosis. Int J Cardiol (2001) 1.46

The contribution of classical risk factors to cardiovascular disease in familial hypercholesterolaemia: data in 2400 patients. J Intern Med (2004) 1.46

APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required. Neth J Med (2012) 1.44

Duration of oral anticoagulant treatment in patients with venous thromboembolism and a deficiency of antithrombin, protein C or protein S--a decision analysis. Thromb Haemost (2000) 1.40

Gene therapy for genetic lipoprotein lipase deficiency: from promise to practice. Neth J Med (2005) 1.40

Cardiovascular metabolic syndrome - an interplay of, obesity, inflammation, diabetes and coronary heart disease. Diabetes Obes Metab (2007) 1.35

[Tracing of patients with familial hypercholesterolemia in the Netherlands]. Ned Tijdschr Geneeskd (1999) 1.33

Evaluation of cholesterol lowering treatment of patients with familial hypercholesterolemia: a large cross-sectional study in The Netherlands. Atherosclerosis (2009) 1.27

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia. J Intern Med (2012) 1.27

Differential leucocyte count and the risk of future coronary artery disease in healthy men and women: the EPIC-Norfolk Prospective Population Study. J Intern Med (2007) 1.22

A systematic review and meta-analysis of statin therapy in children with familial hypercholesterolemia. Arterioscler Thromb Vasc Biol (2007) 1.22

The molecular basis of familial hypercholesterolemia in The Netherlands. Hum Genet (2001) 1.22

Rapid, arteriovenous graft failure due to intimal hyperplasia: a porcine, bilateral, carotid arteriovenous graft model. J Surg Res (2003) 1.21

Estimation of multilocus haplotype effects using weighted penalised log-likelihood: analysis of five sequence variations at the cholesteryl ester transfer protein gene locus. Ann Hum Genet (2003) 1.19

In vivo quantification of carotid artery wall dimensions: 3.0-Tesla MRI versus B-mode ultrasound imaging. Circ Cardiovasc Imaging (2009) 1.16

Morbidity and mortality in patients waiting for coronary artery bypass surgery. Eur J Cardiothorac Surg (2001) 1.14

Duration of treatment with vitamin K antagonists in symptomatic venous thromboembolism. Cochrane Database Syst Rev (2006) 1.13

Triglycerides and cardiovascular risk. Curr Cardiol Rev (2009) 1.12

Sustained changes in lipid profile and macrophage migration inhibitory factor levels after anti-tumour necrosis factor therapy in rheumatoid arthritis. Ann Rheum Dis (2008) 1.12

Factor VIII deficiency does not protect against atherosclerosis. J Thromb Haemost (2012) 1.11

Toll-like receptor-4 Asp299Gly polymorphism does not influence progression of atherosclerosis in patients with familial hypercholesterolaemia. Eur J Clin Invest (2004) 1.11

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: family tree mortality study. BMJ (2001) 1.09

Relation between quality of anticoagulant treatment and the development of the postthrombotic syndrome. J Thromb Haemost (2005) 1.07

Physical inactivity, abdominal obesity and risk of coronary heart disease in apparently healthy men and women. Int J Obes (Lond) (2009) 1.06

Statin therapy and levels of hemostatic factors in a healthy population: the Multi-Ethnic Study of Atherosclerosis: a rebuttal. J Thromb Haemost (2013) 1.05

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. J Appl Genet (2010) 1.04

Effects of six APOA5 variants, identified in patients with severe hypertriglyceridemia, on in vitro lipoprotein lipase activity and receptor binding. Arterioscler Thromb Vasc Biol (2008) 1.02

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-R(Honduras-1) [LDL-R1061(-1) G-->C]. Atherosclerosis (1999) 1.01

Reducing cardiovascular disease risk in patients with type 2 diabetes and concomitant macrovascular disease: can insulin be too much of a good thing? Diabetes Obes Metab (2011) 1.01

Tumor necrosis factor-alpha inhibition protects against endotoxin-induced endothelial glycocalyx perturbation. Atherosclerosis (2008) 1.01

Non-fatal major bleeding during treatment with vitamin K antagonists: influence of soluble thrombomodulin and mutations in the propeptide of coagulation factor IX. J Thromb Haemost (2004) 1.01

Baseline cholesterol absorption and the response to ezetimibe/simvastatin therapy: a post-hoc analysis of the ENHANCE trial. J Lipid Res (2009) 1.00

Novel mutations in scavenger receptor BI associated with high HDL cholesterol in humans. Clin Genet (2011) 1.00

Pediatric venous thromboembolic disease in one single center: congenital prothrombotic disorders and the clinical outcome. J Thromb Haemost (2003) 1.00

ABCA1 regulatory variants influence coronary artery disease independent of effects on plasma lipid levels. Clin Genet (2002) 0.99

Dalcetrapib: no off-target toxicity on blood pressure or on genes related to the renin-angiotensin-aldosterone system in rats. Br J Pharmacol (2009) 0.97

Common variants of multiple genes that control reverse cholesterol transport together explain only a minor part of the variation of HDL cholesterol levels. Clin Genet (2006) 0.96

Perturbation of hyaluronan metabolism predisposes patients with type 1 diabetes mellitus to atherosclerosis. Diabetologia (2007) 0.96

Increased prevalence of risk factors for cardiovascular disease in long-term survivors of acute lymphoblastic leukemia and Wilms tumor treated with radiotherapy. Pediatr Blood Cancer (2010) 0.94

Plasma levels of lecithin:cholesterol acyltransferase and risk of future coronary artery disease in apparently healthy men and women: a prospective case-control analysis nested in the EPIC-Norfolk population study. J Lipid Res (2009) 0.93

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia. J Intern Med (2003) 0.93

Time to conception and time to live birth in women with unexplained recurrent miscarriage. Hum Reprod (2014) 0.93

Increasing HDL cholesterol with extended-release nicotinic acid: from promise to practice. Neth J Med (2004) 0.93

Reconstituted HDL infusion restores endothelial function in patients with type 2 diabetes mellitus. Diabetologia (2008) 0.92

Cholesteryl ester transfer protein concentration is associated with progression of atherosclerosis and response to pravastatin in men with coronary artery disease (REGRESS). Eur J Clin Invest (2004) 0.90

[Higher prevalence of familial hypercholesterolemia than expected in adult patients of four family practices in Netherlands]. Ned Tijdschr Geneeskd (2000) 0.90

Long term statin treatment reduces lipoprotein(a) concentrations in heterozygous familial hypercholesterolaemia. Heart (2003) 0.90

Results from a rosuvastatin historical cohort study in more than 45,000 Dutch statin users, a PHARMO study. Pharmacoepidemiol Drug Saf (2006) 0.89

Two novel mutations in apolipoprotein C3 underlie atheroprotective lipid profiles in families. Clin Genet (2013) 0.87

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia. Clin Genet (2000) 0.87

Air pollution as noxious environmental factor in the development of cardiovascular disease. Neth J Med (2009) 0.87

Long-term LDL-c lowering in heterozygous familial hypercholesterolemia normalizes carotid intima-media thickness. Atherosclerosis (2010) 0.87

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 Hum Genet (2001) 0.87

Venous thrombosis is associated with hyperglycemia at diagnosis: a case-control study. J Thromb Haemost (2009) 0.87

Low HDL cholesterol levels in type I Gaucher disease do not lead to an increased risk of cardiovascular disease. Atherosclerosis (2008) 0.86

Familial hypercholesterolemia: present and future management. Curr Cardiol Rep (2011) 0.86

Systemic coagulation and fibrinolysis in patients with or at risk for the adult respiratory distress syndrome. Thromb Haemost (1997) 0.86

Genome-wide association studies in atherosclerosis. Curr Atheroscler Rep (2011) 0.84

Vitamin K antagonists or low-molecular-weight heparin for the long term treatment of symptomatic venous thromboembolism. Cochrane Database Syst Rev (2002) 0.84

Oral anticoagulant therapy during and after coronary angioplasty the intensity and duration of anticoagulation are essential to reduce thrombotic complications. Circulation (2001) 0.84

Pink-creamy whole blood in a 3-month-old infant with a homozygous deletion in the lipoprotein lipase gene. Clin Genet (2010) 0.84

Ethnic differences in maternal total cholesterol and triglyceride levels during pregnancy: the contribution of demographics, behavioural factors and clinical characteristics. Eur J Clin Nutr (2011) 0.84

Plant sterols lower LDL cholesterol without improving endothelial function in prepubertal children with familial hypercholesterolaemia. J Inherit Metab Dis (2003) 0.83

Normalization of metabolic syndrome using fenofibrate, metformin or their combination. Diabetes Obes Metab (2007) 0.83

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase. Atherosclerosis (2011) 0.83

Reduced intima media thickness in adults after prenatal exposure to the Dutch famine. Atherosclerosis (2006) 0.83

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia. J Lipid Res (2012) 0.82

Atherogenesis in rheumatology. Lupus (2006) 0.82

Dilemmas in treatment of women with familial hypercholesterolaemia during pregnancy. Neth J Med (2010) 0.82

Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries. Arterioscler Thromb Vasc Biol (1997) 0.82

Achieving lipid goals in real life: the Dutch DISCOVERY study. Int J Clin Pract (2005) 0.82

Safety and tolerability of prolonged-release nicotinic acid in statin-treated patients. Curr Med Res Opin (2007) 0.82

Inflammatory biomarkers and the prediction of coronary events among people at intermediate risk: the EPIC-Norfolk prospective population study. Heart (2009) 0.81

[The practice guideline 'Diagnosis and treatment of familial hypercholesterolaemia' of the Dutch Health Care Insurance Board]. Ned Tijdschr Geneeskd (2006) 0.81

Identification of a double mutation in the low-density lipoprotein receptor gene causing familial hypercholesterolemia. Clin Genet (1996) 0.81