Publications by authors named "Sigrid Fouchier"

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Children with hypercholesterolemia of unknown cause: Value of genetic risk scores.
Barbara Sjouke, Michael W T Tanck, Sigrid W Fouchier, Joep C Defesche, Barbara A Hutten

J Clin Lipidol· October 2017

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Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia.
Barbara Sjouke, Joep C Defesche, Janine S E de Randamie, Albert Wiegman, Sigrid W Fouchier

Atherosclerosis· August 2016

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Characterization of Autosomal Dominant Hypercholesterolemia Caused by PCSK9 Gain of Function Mutations and Its Specific Treatment With Alirocumab, a PCSK9 Monoclonal Antibody.
Paul N Hopkins, Joep Defesche, Sigrid W Fouchier, Eric Bruckert, Gérald Luc

Circ Cardiovasc Genet· December 2015

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Exome sequencing in suspected monogenic dyslipidemias.
Nathan O Stitziel, Gina M Peloso, Marianne Abifadel, Angelo B Cefalu, Sigrid Fouchier

Circ Cardiovasc Genet· April 2015

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Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome.
Barbara Sjouke, D Meeike Kusters, Iris Kindt, Joost Besseling, Joep C Defesche, Sigrid W Fouchier

Eur Heart J· March 2015

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Current novel-gene-finding strategy for autosomal-dominant hypercholesterolaemia needs refinement.
Sigrid W Fouchier, Barbara A Hutten, Joep C Defesche

J Med Genet· February 2015

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Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Sigrid W Fouchier, Geesje M Dallinga-Thie, Joost C M Meijers, Noam Zelcer, John J P Kastelein

Circ Res· August 2014

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Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia.
Nathan O Stitziel, Sigrid W Fouchier, Barbara Sjouke, Gina M Peloso, Alessa M Moscoso

Arterioscler Thromb Vasc Biol· December 2013

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Lysosomal acid lipase A and the hypercholesterolaemic phenotype.
Sigrid W Fouchier, Joep C Defesche

Curr Opin Lipidol· August 2013

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Identification of a loss-of-function inducible degrader of the low-density lipoprotein receptor variant in individuals with low circulating low-density lipoprotein.
Vincenzo Sorrentino, Sigrid W Fouchier, Mohammad M Motazacker, Jessica K Nelson, Joep C Defesche

Eur Heart J· May 2013

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Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Zari Dastani, Marie-France Hivert, Nicholas Timpson, John R B Perry, Xin Yuan, Sigrid W Fouchier

PLoS Genet· September 2012

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Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.
Mohammad Mahdi Motazacker, James Pirruccello, Roeland Huijgen, Ron Do, Stacey Gabriel, Sigrid W Fouchier

Eur Heart J· June 2012

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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.
Roeland Huijgen, Barbara Sjouke, Kelly Vis, Janine S E de Randamie, Joep C Defesche, Sigrid W Fouchier

Hum Mutat· February 2012

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Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
Anouk van der Graaf, Hans J Avis, D Meeike Kusters, Maud N Vissers, Barbara A Hutten, Sigrid W Fouchier

Circulation· March 2011

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Biological, clinical and population relevance of 95 loci for blood lipids.
Tanya M Teslovich, Kiran Musunuru, Albert V Smith, Andrew C Edmondson, Ioannis M Stylianou, Sigrid W Fouchier

Nature· August 2010

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Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Roeland Huijgen, Iris Kindt, Sigrid W Fouchier, Joep C Defesche, Barbara A Hutten

Hum Mutat· June 2010

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Familial defective apolipoprotein B and familial hypobetalipoproteinemia in one family: two neutralizing mutations.
Anouk van der Graaf, Sigrid W Fouchier, Maud N Vissers, Joep C Defesche, Albert Wiegman

Ann Intern Med· May 2008

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Management of hereditary dyslipidaemia; the paradigm of autosomal dominant hypercholesterolaemia.
Sigrid W Fouchier, Jessica Rodenburg, Joep C Defesche, John J P Kastelein

Eur J Hum Genet· December 2005

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Update of the molecular basis of familial hypercholesterolemia in The Netherlands.
Sigrid W Fouchier, John J P Kastelein, Joep C Defesche

Hum Mutat· December 2005

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Hepatic and cardiovascular consequences of familial hypobetalipoproteinemia.
Raaj R Sankatsing, Sigrid W Fouchier, Stefan de Haan, Barbara A Hutten, Eric de Groot

Arterioscler Thromb Vasc Biol· September 2005

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What promise does PCSK9 hold?
John J P Kastelein, Sigrid W Fouchier, Joep C Defesche

J Am Coll Cardiol· May 2005

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Familial defective apolipoprotein B versus familial hypercholesterolemia: an assessment of risk.
Sigrid W Fouchier, Joep C Defesche, John J P Kastelein, Eric J G Sijbrands

Semin Vasc Med· August 2004

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