相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Association Between Cumulative Low-Density Lipoprotein Cholesterol Exposure During Young Adulthood and Middle Age and Risk of Cardiovascular Events
Yiyi Zhang et al.
JAMA CARDIOLOGY (2021)
Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease
Mark Trinder et al.
JAMA CARDIOLOGY (2020)
Prevalence of genetically verified familial hypercholesterolemia among young (< 45 years) Norwegian patients hospitalized with acute myocardial infarction
Martin P. Bogsrud et al.
JOURNAL OF CLINICAL LIPIDOLOGY (2020)
Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia
Mark Trinder et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2019)
Impact of clinical signs and genetic diagnosis of familial hypercholesterolaemia on the prevalence of coronary artery disease in patients with severe hypercholesterolaemia
Hayato Tada et al.
EUROPEAN HEART JOURNAL (2017)
Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217
Marianne Benn et al.
EUROPEAN HEART JOURNAL (2016)
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia
Amit V. Khera et al.
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)
The mutation significance cutoff: gene-level thresholds for variant predictions
Yuval Itan et al.
NATURE METHODS (2016)
Clinical features of familial hypercholesterolemia in Korea: Predictors of pathogenic mutations and coronary artery disease - A study supported by the Korean Society of Lipidology and Atherosclerosis
Dong Geum Shin et al.
ATHEROSCLEROSIS (2015)
Prevalence and management of familial hypercholesterolaemia in patients with acute coronary syndromes
David Nanchen et al.
EUROPEAN HEART JOURNAL (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Ron Do et al.
NATURE (2015)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease
Borge G. Nordestgaard et al.
EUROPEAN HEART JOURNAL (2013)
Low-Density Lipoprotein Receptor Gene Familial Hypercholesterolemia Variant Database: Update and Pathological Assessment
Ebele Usifo et al.
ANNALS OF HUMAN GENETICS (2012)
Homozygous familial hypercholesterolemia: Current perspectives on diagnosis and treatment
Frederick J. Raal et al.
ATHEROSCLEROSIS (2012)
Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk
S. E. Humphries et al.
JOURNAL OF MEDICAL GENETICS (2006)
Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate
CA Graham et al.
ATHEROSCLEROSIS (2005)
The independent effect of type 2 diabetes mellitus on ischemic heart disease, stroke, and death - A population-based study of 13000 men and women with 20 years of follow-up
T Almdal et al.
ARCHIVES OF INTERNAL MEDICINE (2004)