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Update of the molecular basis of familial hypercholesterolemia in The Netherlands

Human mutation, 2005-12, Vol.26 (6), p.550-556

2005

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Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

Journal of the American College of Cardiology, 2018-08, Vol.72 (6), p.662-680

2018

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The Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator–Activated Receptor-γ2 Gene on Glucose/Insulin Metabolism Interact With Prenatal Exposure to Famine

Diabetes care, 2006-05, Vol.29 (5), p.1052-1057

2006

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Corrigendum to “Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia” J Clin Lipidol 11 (2017) 1338-1346

Journal of clinical lipidology, 2020-09, Vol.14 (5), p.742-742

2020

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A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia

Circulation. Genomic and precision medicine, 2018-12, Vol.11 (12), p.e002385-e002385

2018

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Familial hypercholesterolemia: current treatment and advances in management

Expert review of cardiovascular therapy, 2008-04, Vol.6 (4), p.567-581

2008

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Low-density lipoprotein receptor--its structure, function, and mutations

Seminars in vascular medicine, 2004-02, Vol.4 (1), p.5-11

Defesche, Joep C

2004

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Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Human mutation, 2012-02, Vol.33 (2), p.448-455

2012

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Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands

Seminars in vascular medicine, 2004-02, Vol.4 (1), p.97-104

2004

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Advanced method for the identification of patients with inherited hypercholesterolemia

Seminars in vascular medicine, 2004-02, Vol.4 (1), p.59-65

2004

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The Apolipoprotein ε4 Allele Confers Additional Risk in Children with Familial Hypercholesterolemia

Pediatric research, 2003-06, Vol.53 (6), p.1008-1012

2003

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Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study

BMJ. British medical journal (International ed.), 2001-04, Vol.322 (7293), p.1019

International edition, 2001

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Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk

Seminars in vascular medicine, 2004-08, Vol.4 (3), p.259

2004

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Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants : Genetic and protein markers of CVD

European heart journal, 2012, Vol.33 (18), p.2325-2330

2012

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Global Perspectives of Familial Hypercholesterolemia

Community genetics, 2001, Vol.4 (2), p.61-67

2001

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Preventive cardiology: Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia

The American journal of cardiology, 2009-02, Vol.103 (3), p.375-380

2009

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What Promise Does PCSK9Hold?

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620-1621

2005

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What Promise Does PCSK9Hold?⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620-1621

2005

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Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia. Commentary

Journal of hypertension, 2008, Vol.26 (3)

2008

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Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

BMJ. British medical journal (International ed.), 2009-01, Vol.338 (7688), p.223

International edition, 2009

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What Promise Does PCSK9 Hold?Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology

Journal of the American College of Cardiology, 2005-05, Vol.45 (10), p.1620

2005

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Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. Commentary

European heart journal, 2008, Vol.29 (18)

2008

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Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator-Activated Receptor-[gamma]2 Gene on Glucose/Insulin Metabolism Interact With Prenatal Exposure to Famine

Diabetes care, 2006-05, Vol.29 (5), p.1052-1057

2006

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The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famine

Diabetes care, 2006-05, Vol.29 (5), p.1052-1057

2006

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Update of the molecular basis of familial hypercholesterolemia in The Netherlands

Clinical Genetic Testing for Familial Hypercholesterolemia: JACC Scientific Expert Panel

The Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator–Activated Receptor-γ2 Gene on Glucose/Insulin Metabolism Interact With Prenatal Exposure to Famine

Corrigendum to “Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia” J Clin Lipidol 11 (2017) 1338-1346

A Deep Intronic Variant in LDLR in Familial Hypercholesterolemia

Familial hypercholesterolemia: current treatment and advances in management

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society

Low-density lipoprotein receptor--its structure, function, and mutations

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels

Cost-effectiveness analysis of the genetic screening program for familial hypercholesterolemia in The Netherlands

Advanced method for the identification of patients with inherited hypercholesterolemia

The Apolipoprotein ε4 Allele Confers Additional Risk in Children with Familial Hypercholesterolemia

Mortality over two centuries in large pedigree with familial hypercholesterolaemia: Family tree mortality study

Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk

Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29 365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants : Genetic and protein markers of CVD

Global Perspectives of Familial Hypercholesterolemia

Preventive cardiology: Usefulness of Genetic Polymorphisms and Conventional Risk Factors to Predict Coronary Heart Disease in Patients With Familial Hypercholesterolemia

What Promise Does PCSK9Hold?

What Promise Does PCSK9Hold?⁎⁎Editorials published in the Journal of the American College of Cardiologyreflect the views of the authors and do not necessarily represent the views of JACCor the American College of Cardiology

Haplotype of the angiotensinogen gene is associated with coronary heart disease in familial hypercholesterolemia. Commentary

Efficacy of statins in familial hypercholesterolaemia: a long term cohort study

What Promise Does PCSK9 Hold?Editorials published in the Journal of the American College of Cardiology reflect the views of the authors and do not necessarily represent the views of JACC or the American College of Cardiology

Replication study of 10 genetic polymorphisms associated with coronary heart disease in a specific high-risk population with familial hypercholesterolemia. Commentary

Effects of the Pro12Ala Polymorphism of the Peroxisome Proliferator-Activated Receptor-[gamma]2 Gene on Glucose/Insulin Metabolism Interact With Prenatal Exposure to Famine

The effects of the Pro12Ala polymorphism of the peroxisome proliferator-activated receptor-gamma2 gene on glucose/insulin metabolism interact with prenatal exposure to famine

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