Associated Papers
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with angiographically documented premature coronary artery disease.
Liang KW et al.
Scientific Reports, 2026
A nationwide genetic and phenotypic spectrum of 63 probands of homozygous familial hypercholesterolemia in Taiwan.
Lin CF et al.
Journal of Clinical Lipidology, 2026
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
A case report of heterozygous familial hypercholesterolaemia with LDLR gene mutation complicated by premature coronary artery disease detected in primary care.
Abdul-Halim MAZ et al.
European Heart Journal. Case Reports, 2024
Prevalence and prognosis of genetically proven familial hypercholesterolemia in subjects with coronary artery disease and reduced ejection fraction.
Lee WJ et al.
Scientific Reports, 2023
Feasibility of Targeted Next-Generation DNA Sequencing for Expanding Population Newborn Screening.
Shum BOV et al.
Clinical Chemistry, 2023
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
Chaudhry A et al.
Circulation. Genomic and Precision Medicine, 2023
Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.
Lee WJ et al.
Genes, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
Prevalence of DNA-confirmed familial hypercholesterolaemia in young patients with myocardial infarction.
Wald DS et al.
European Journal of Internal Medicine, 2015
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
Effects of intronic mutations in the LDLR gene on pre-mRNA splicing: Comparison of wet-lab and bioinformatics analyses.
Holla ØL et al.
Molecular Genetics and Metabolism, 2009
Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.
Lombardi MP et al.
Genetic Testing, 2006
Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.
Punzalan FE et al.
Journal of Atherosclerosis and Thrombosis, 2005
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Guerin A et al.
Cmaj Open, 0