S. Fouchier

发表

Plasma levels of PCSK9 and phenotypic variability in familial hypercholesterolemia[S]

J. Kastelein, G. Lambert, B. Hutten, 2012, Journal of Lipid Research.

Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody

M. Krempf, G. Luc, P. Hopkins, 2015, Circulation. Cardiovascular genetics.

HOMOZYGOUS AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA IN THE NETHERLANDS: PREVALENCE, GENOTYPE-PHENOTYPE RELATIONSHIP AND CLINICAL OUTCOME

E. Sijbrands, J. Kastelein, J. Graaf, 2014 .

Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.

E. Sijbrands, J. Kastelein, A. Stalenhoef, 2015, European heart journal.

Update of the molecular basis of familial hypercholesterolemia in The Netherlands

J. Kastelein, J. Defesche, S. Fouchier, 2005, Human mutation.

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

E. Sijbrands, J. Kastelein, J. Defesche, 2004, Seminars in vascular medicine.

Global Perspectives of Familial Hypercholesterolemia

J. Kastelein, J. Defesche, S. Fouchier, 2001, Public Health Genomics.

Children with hypercholesterolemia of unknown cause: Value of genetic risk scores.

J. Kastelein, M. Tanck, G. Hovingh, 2016, Journal of clinical lipidology.

Molecular Basis of Autosomal Dominant Hypercholesterolemia: Assessment in a Large Cohort of Hypercholesterolemic Children

J. Kastelein, F. Wijburg, B. Hutten, 2011, Circulation.

Lysosomal acid lipase A and the hypercholesterolaemic phenotype

J. Defesche, S. Fouchier, 2013, Current opinion in lipidology.

What promise does PCSK9 hold?

J. Kastelein, J. Defesche, S. Fouchier, 2005, Journal of the American College of Cardiology.

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

J. Kastelein, M. Pocovi, J. Defesche, 2005, Journal of Medical Genetics.

Molecular and Biochemical Characterization of Rat γ-Trimethylaminobutyraldehyde Dehydrogenase and Evidence for the Involvement of Human Aldehyde Dehydrogenase 9 in Carnitine Biosynthesis*

R. Wanders, F. Vaz, R. Ofman, 2000, The Journal of Biological Chemistry.

Running title: Stitziel et al., Exome Sequencing in Monogenic Dyslipidemias

S. Gabriel, M. Daly, D. Nickerson, 2015 .

Biological, Clinical, and Population Relevance of 95 Loci for Blood Lipids

Tanya M. Teslovich, Y. J. Kim, M. Rieder, 2010, Nature.

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

S. Gabriel, D. Altshuler, N. Samani, 2013, Arteriosclerosis, thrombosis, and vascular biology.

Mutations in STAP1 Are Associated With Autosomal Dominant Hypercholesterolemia

S. Kathiresan, N. Stitziel, J. Kastelein, 2014, Circulation research.

The molecular basis of familial hypercholesterolemia in The Netherlands

J. Kastelein, J. Defesche, Joep C. Defesche, 2001, Human Genetics.

Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement

B. Hutten, J. Defesche, S. Fouchier, 2014, Journal of Medical Genetics.

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

J. Kastelein, J. Nelson, N. Zelcer, 2013, European heart journal.

Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

S. Gabriel, S. Kathiresan, R. Do, 2012, European heart journal.

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

J. Kastelein, G. Hovingh, J. Defesche, 2012, Human mutation.

Functionality of sequence variants in the genes coding for the low‐density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia

J. Kastelein, John J P Kastelein, B. Hutten, 2010, Human mutation.

Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia

J. Kastelein, J. Defesche, S. Fouchier, 2005, European Journal of Human Genetics.

Exome Sequencing in Suspected Monogenic Dyslipidemias

Rahul C. Deo, S. Gabriel, M. Daly, 2015, Circulation. Cardiovascular genetics.

Molecularr and biochemical characterisation of rat 4N-tri-methylaminobutyraldehydee dehydrogenase and evidence for thee involvement of human ALDH 9 in carnitin e biosynthesis

F. Vaz, R. Ofman, M. Sommer, 2007 .

Hepatic and Cardiovascular Consequences of Familial Hypobetalipoproteinemia

J. Kastelein, E. Stroes, E. de Groot, 2005, Arteriosclerosis, thrombosis, and vascular biology.

Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage Disease Presenting as Autosomal Recessive Hypercholesterolemia

S. Gabriel, D. Altshuler, N. Samani, 2013, Arteriosclerosis, Thrombosis and Vascular Biology.

Disease Presenting as Autosomal Recessive Hypercholesterolemia Exome Sequencing and Directed Clinical Phenotyping Diagnose Cholesterol Ester Storage

S. Gabriel, N. Samani, M. Farrall, 2013 .

Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.

G. Hovingh, J. Defesche, A. Wiegman, 2016, Atherosclerosis.

Abstract: P841 NON-FUNCTIONALITY OF THREE LDL-R AND APOB GENE MUTATIONS THAT WERE ASSUMED TO CAUSE FAMILIAL HYPERCHOLESTEROLEMIA

J. Kastelein, B. Hutten, J. Defesche, 2009 .

Abstract: P870 IDENTIFICATION OF APOB AND PCSK9 MUTATIONS CAUSING A NON-ADH PHENOTYPE IN MOLECULAR DIAGNOSED ADH PATIENTS

J. Kastelein, J. Defesche, R. Huijgen, 2009 .

Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations.

J. Kastelein, M. Trip, B. Hutten, 2008, Annals of internal medicine.

Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals

Karen L. Mohlke, Luigi Ferrucci, Florian Kronenberg, 2012, PLoS genetics.

Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.

J. Kastelein, J. Nelson, N. Zelcer, 2013, European heart journal.