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Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia

Current opinion in lipidology, 2023-12, Vol.34 (6), p.287-295

2023

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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

Atherosclerosis, 2011-05, Vol.216 (1), p.161-165

2011

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Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

Journal of internal medicine, 2012-08, Vol.272 (2), p.185-196

2012

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Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

Clinical genetics, 2012-01, Vol.81 (1), p.24-28

2012

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Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

Journal of internal medicine, 2003-02, Vol.253 (2), p.161-168

2003

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

BMJ, 2008-11, Vol.337 (nov11 1), p.a2423-a2423

2008

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Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

Clinical genetics, 2008-06, Vol.73 (6), p.573-578

2008

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APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required

Netherlands journal of medicine, 2012-08, Vol.70 (6), p.278-280

2012

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High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent

Journal of medical genetics, 2005-04, Vol.42 (4), p.e23-e23

2005

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Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

The Lancet (British edition), 2001-01, Vol.357 (9251), p.165-168

2001

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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

European heart journal, 2010-04, Vol.31 (8), p.1007-1012

2010

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Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

European heart journal, 2014-08, Vol.35 (32), p.2146-2157

2014

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The molecular basis of familial hypercholesterolemia in The Netherlands

Human genetics, 2001-12, Vol.109 (6), p.602-615

2001

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Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children

Circulation (New York, N.Y.), 2003-03, Vol.107 (11), p.1473-1478

2003

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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

Circulation (New York, N.Y.), 1998-03, Vol.97 (8), p.729-735

1998

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Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

Journal of applied genetics, 2010, Vol.51 (1), p.95-106

2010

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Results from a family and DNA based active identification programme for familial hypercholesterolaemia

Journal of epidemiology and community health (1979), 2001-07, Vol.55 (7), p.500-502

2001

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Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production

Arteriosclerosis, thrombosis, and vascular biology, 2005-03, Vol.25 (3), p.560-565

2005

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Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Clinical genetics, 2000-08, Vol.58 (2), p.98-105

2000

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Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries

Arteriosclerosis, thrombosis, and vascular biology, 1997-04, Vol.17 (4), p.741-747

1997

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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

Netherlands heart journal, 2011-04, Vol.19 (4), p.175-182

2011

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A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 1999-11, Vol.19 (11), p.2708-2713

1999

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Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

Clinical genetics, 2000-02, Vol.57 (2), p.116-124

2000

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Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 2005-07, Vol.25 (7), p.1475-1481

2005

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3259Next-generation sequencing to confirm clinical FH in The Netherlands

European heart journal, 2019-10, Vol.40 (Supplement_1)

2019

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Genotype–phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia

Proteinuria in early childhood due to familial LCAT deficiency caused by loss of a disulfide bond in lecithin:cholesterol acyl transferase

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia

Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous xanthomatosis

Prevalence and significance of cardiovascular risk factors in a large cohort of patients with familial hypercholesterolaemia

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

Silent exonic mutations in the low-density lipoprotein receptor gene that cause familial hypercholesterolemia by affecting mRNA splicing

APOE1 mutation in a patient with type III hyperlipoproteinaemia: detailed genetic analysis required

High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands

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

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

The molecular basis of familial hypercholesterolemia in The Netherlands

Family history and cardiovascular risk in familial hypercholesterolemia: Data in more than 1000 children

A common mutation in the lipoprotein lipase gene (N291S) alters the lipoprotein phenotype and risk for cardiovascular disease in patients with familial hypercholesterolemia

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations

Results from a family and DNA based active identification programme for familial hypercholesterolaemia

Complete deficiency of the low-density lipoprotein receptor is associated with increased apolipoprotein B-100 production

Low-density lipoprotein receptor gene mutations in a Southeast Asian population with familial hypercholesterolemia

Phenotypic variation in patients heterozygous for familial defective apolipoprotein B (FDB) in three European countries

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

A frequent mutation in the lipoprotein lipase gene (D9N) deteriorates the biochemical and clinical phenotype of familial hypercholesterolemia

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in the Netherlands

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia

3259Next-generation sequencing to confirm clinical FH in The Netherlands

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