Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction
Familial hypercholesterolemia (FH) is an oligogenic disorder characterized by markedly
elevated low-density lipoprotein cholesterol (LDLC) levels. Variants in four genes have been …
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 …
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 …
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,∼ …
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 …
density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a …
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
Background Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …
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 …
Purpose Familial hypercholesterolemia (FH) is an autosomal disorder of lipid metabolism
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …
presenting with increased cardiovascular risk. Although more than 1,700 variants have been …
The genetic spectrum of familial hypercholesterolemia (FH) in the Iranian population
Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with
premature cardiovascular disease (CVD). Mutations in the LDLR, APOB, and PCSK9 genes …
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 …
characterized by elevated plasma levels of low-density lipoprotein cholesterol (LDL-C) and …
Genetic testing of Korean familial hypercholesterolemia using whole-exome sequencing
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 …
onset coronary artery disease. Although some clinically diagnosed FH cases are caused by …
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