Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction

I Brænne, M Kleinecke, B Reiz, E Graf… - European Journal of …, 2016 - nature.com
Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly
elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been …

Genetic architecture of familial hypercholesterolaemia

M Sharifi, M Futema, D Nair, SE Humphries - Current cardiology reports, 2017 - Springer
Abstract Purpose of Review Familial hypercholesterolaemia (FH) is an inherited disorder of
low-density lipoprotein cholesterol (LDL-C) which is characterised by a raised cholesterol …

Genetics of familial hypercholesterolemia: new insights

M Vrablik, L Tichý, T Freiberger, V Blaha… - Frontiers in …, 2020 - frontiersin.org
Familial hypercholesterolemia (FH) is one of the most common monogenic diseases,
leading to an increased risk of premature atherosclerosis and its cardiovascular …

Risk of premature atherosclerotic disease in patients with monogenic versus polygenic familial hypercholesterolemia

M Trinder, X Li, ML DeCastro, L Cermakova… - Journal of the American …, 2019 - jacc.org
Background: A pathogenic variant in LDLR, APOB, or PCSK9 can be identified in 30% to
80% of patients with clinically-diagnosed familial hypercholesterolemia (FH). Alternatively,∼ …

Genetics of familial hypercholesterolemia

A Brautbar, E Leary, K Rasmussen, DP Wilson… - Current atherosclerosis …, 2015 - Springer
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations

M Futema, V Plagnol, KW Li, RA Whittall… - Journal of medical …, 2014 - jmg.bmj.com
Background Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …

[HTML][HTML] Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and …

JR Chora, AM Medeiros, AC Alves, M Bourbon - Genetics in Medicine, 2018 - Elsevier
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …

The genetic spectrum of familial hypercholesterolemia (FH) in the Iranian population

RH Fairoozy, M Futema, R Vakili, MR Abbaszadegan… - Scientific reports, 2017 - nature.com
Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with
premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes …

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

T Grenkowitz, U Kassner, M Wühle-Demuth… - Atherosclerosis, 2016 - Elsevier
Background and aims Autosomal-dominant familial hypercholesterolemia (FH) is
characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and …

Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing

SM Han, B Hwang, T Park, DI Kim, MY Rhee, BK Lee… - PloS one, 2015 - journals.plos.org
Familial hypercholesterolemia (FH) is a genetic disorder with an increased risk of early-
onset coronary artery disease. Although some clinically diagnosed FH cases are caused by …