The genetic architecture of the familial hyperlipidaemia syndromes

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

(2013) Nathan O. Stitziel et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Analysis of the frequency and spectrum of mutations recognised to cause familial hypercholesterolaemia in routine clinical practice in a UK specialist hospital lipid clinic

(2013) Marta Futema et al.   ATHEROSCLEROSIS

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

(2013) B. G. Nordestgaard et al.   EUROPEAN HEART JOURNAL

The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia

(2013) Jana Vandrovcova et al.   GENETICS IN MEDICINE

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study

(2013) Philippa J Talmud et al.   LANCET

Identification and biochemical analysis of a novelAPOBmutation that causes autosomal dominant hypercholesterolemia

(2013) Ellen R. A. Thomas et al.   Molecular Genetics & Genomic Medicine

Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment

(2012) Ebele Usifo et al.   ANNALS OF HUMAN GENETICS

Influence of common genetic variation on blood lipid levels, cardiovascular risk, and coronary events in two British prospective cohort studies

(2012) Sonia Shah et al.   EUROPEAN HEART JOURNAL

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

(2012) Mohammad Mahdi Motazacker et al.   EUROPEAN HEART JOURNAL

Familial Hypercholesterolemia in the Danish General Population: Prevalence, Coronary Artery Disease, and Cholesterol-Lowering Medication

(2012) Marianne Benn et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mutations inLPL,APOC2,APOA5,GPIHBP1andLMF1in patients with severe hypertriglyceridaemia

(2012) R. P. Surendran et al.   JOURNAL OF INTERNAL MEDICINE

Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia

(2012) Marta Futema et al.   JOURNAL OF MEDICAL GENETICS

Next Steps in Cardiovascular Disease Genomic Research--Sequencing, Epigenetics, and Transcriptomics

(2011) R. B. Schnabel et al.   CLINICAL CHEMISTRY

Genetic bases of hypertriglyceridemic phenotypes

(2011) Christopher T. Johansen et al.   CURRENT OPINION IN LIPIDOLOGY

Genome-Wide Linkage Scan of a Pedigree with Familial Hypercholesterolemia Suggests Susceptibility Loci on Chromosomes 3q25-26 and 21q22

(2011) Xu Wang et al.   PLoS One

A presumptive new locus for autosomal dominant hypercholesterolemia mapping to 8q24.22

(2010) A Cenarro et al.   CLINICAL GENETICS

A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1

(2010) Alice Marques-Pinheiro et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

PCSK9R46L, Low-Density Lipoprotein Cholesterol Levels, and Risk of Ischemic Heart Disease

(2010) Marianne Benn et al.   JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Biological, clinical and population relevance of 95 loci for blood lipids

(2010) Tanya M. Teslovich et al.   NATURE

Effects of Six APOA5 Variants, Identified in Patients With Severe Hypertriglyceridemia, on In Vitro Lipoprotein Lipase Activity and Receptor Binding

(2008) B. Dorfmeister et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Concept, Design and Implementation of a Cardiovascular Gene-Centric 50 K SNP Array for Large-Scale Genomic Association Studies

(2008) Brendan J. Keating et al.   PLoS One