Sigrid W Fouchier
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Explore the profile of Sigrid W Fouchier including associated specialties, affiliations and a list of published articles.
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21
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2771
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Recent Articles
1.
Sjouke B, Tanck M, Fouchier S, Defesche J, Hutten B, Wiegman A, et al.
J Clin Lipidol
. 2016 Sep;
10(4):851-859.
PMID: 27578116
Background: Familial hypercholesterolemia (FH) is caused by mutations in LDLR, APOB, or PCSK9, and in a previous study, we identified a causative mutation in these FH genes in 95% (255...
2.
Sequencing for LIPA mutations in patients with a clinical diagnosis of familial hypercholesterolemia
Sjouke B, Defesche J, de Randamie J, Wiegman A, Fouchier S, Hovingh G
Atherosclerosis
. 2016 Jul;
251:263-265.
PMID: 27423329
Background And Aims: We recently identified lysosomal acid lipase (LAL) deficiency, a recessive disease caused by mutations in LIPA, in 3 patients with a clinical diagnosis of familial hypercholesterolemia (FH)....
3.
Hopkins P, Defesche J, Fouchier S, Bruckert E, Luc G, Cariou B, et al.
Circ Cardiovasc Genet
. 2015 Sep;
8(6):823-31.
PMID: 26374825
Background: Patients with PCSK9 gene gain of function (GOF) mutations have a rare form of autosomal dominant hypercholesterolemia. However, data examining their clinical characteristics and geographic distribution are lacking. Furthermore,...
4.
Fouchier S, Hutten B, Defesche J
J Med Genet
. 2014 Nov;
52(2):80-4.
PMID: 25412742
Aims: Autosomal-dominant hypercholesterolaemia (ADH) is a heterogeneous common disorder, and uncovering the molecular determinants that underlie ADH is a major focus of cardiovascular research. However, despite rapid technical advances, efforts...
5.
Fouchier S, Dallinga-Thie G, Meijers J, Zelcer N, Kastelein J, Defesche J, et al.
Circ Res
. 2014 Jul;
115(6):552-5.
PMID: 25035151
Rationale: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease. ADH is caused by mutations in the low-density lipoprotein receptor, apolipoprotein...
6.
Sjouke B, Kusters D, Kindt I, Besseling J, Defesche J, Sijbrands E, et al.
Eur Heart J
. 2014 Mar;
36(9):560-5.
PMID: 24585268
Aims: Homozygous autosomal dominant hypercholesterolaemia (hoADH), an orphan disease caused by mutations in low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin-kexin type 9 (PCSK9), is characterized by...
7.
Stitziel N, Fouchier S, Sjouke B, Peloso G, Moscoso A, Auer P, et al.
Arterioscler Thromb Vasc Biol
. 2013 Sep;
33(12):2909-14.
PMID: 24072694
Objective: Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low-density lipoprotein cholesterol levels, that has been previously linked to mutations in LDLRAP1. We identified...
8.
Fouchier S, Defesche J
Curr Opin Lipidol
. 2013 May;
24(4):332-8.
PMID: 23652569
Purpose Of Review: Mutations in lysosomal acid lipase A (LIPA) result in two phenotypes depending on the extent of lysosomal acid lipase (LAL) deficiency: the severe, early-onset Wolman disease or...
9.
Sorrentino V, Fouchier S, Motazacker M, Nelson J, Defesche J, Dallinga-Thie G, et al.
Eur Heart J
. 2013 Jan;
34(17):1292-7.
PMID: 23324548
Aims: Recent genome-wide association studies suggest that IDOL (also known as MYLIP) contributes to variation in circulating levels of low-density lipoprotein cholesterol (LDL-C). IDOL, an E3-ubiquitin ligase, is a recently...
10.
Dastani Z, Hivert M, Timpson N, Perry J, Yuan X, Scott R, et al.
PLoS Genet
. 2012 Apr;
8(3):e1002607.
PMID: 22479202
Circulating levels of adiponectin, a hormone produced predominantly by adipocytes, are highly heritable and are inversely associated with type 2 diabetes mellitus (T2D) and other metabolic traits. We conducted a...