Associated Papers
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
Real-World Experience from Türkiye: Genetic and Therapeutic Insights in Pediatric Heterozygous Familial Hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.
Al Mahdi HB et al.
Computational and Structural Biotechnology Journal, 2025
Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia.
Wang K et al.
Molecular Genetics & Genomic Medicine, 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
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.
Raal F et al.
Circulation, 2024
Cardiovascular disease risk in patients with elevated LDL-C levels: FH vs. non-FH.
Huang H et al.
Frontiers in Cardiovascular Medicine, 2024
Functional Analysis of 3'UTR Variants at the LDLR and PCSK9 Genes in Patients with Familial Hypercholesterolemia.
Sanguino Otero J et al.
Human Mutation, 2024
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.
Sadiq F et al.
The Lancet Regional Health. Southeast Asia, 2023
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.
Martin AC et al.
Journal of Paediatrics and Child Health, 2022
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Long-term efficacy of lipoprotein apheresis and lomitapide in the treatment of homozygous familial hypercholesterolemia (HoFH): a cross-national retrospective survey.
D'Erasmo L et al.
Orphanet Journal of Rare Diseases, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Targeted Genetic Analysis in a Chinese Cohort of 208 Patients Related to Familial Hypercholesterolemia.
Wang H et al.
Journal of Atherosclerosis and Thrombosis, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Genetically confirmed familial hypercholesterolemia in outpatients with hypercholesterolemia.
Wang X et al.
Journal of Geriatric Cardiology : Jgc, 2018
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
Jiang L et al.
Atherosclerosis, 2017
Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.
Bourbon M et al.
Atherosclerosis, 2017
The genetic spectrum of familial hypercholesterolemia in the central south region of China.
Xiang R et al.
Atherosclerosis, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
Khera AV et al.
Journal of the American College of Cardiology, 2016
The distribution and characteristics of LDL receptor mutations in China: A systematic review.
Jiang L et al.
Scientific Reports, 2015
Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.
Thormaehlen AS et al.
Plos Genetics, 2015
Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.
Alonso R et al.
Journal of the American College of Cardiology, 2014
Primary genetic investigation of a hyperlipidemia model: molecular characteristics and variants of the apolipoprotein E gene in Mongolian gerbil.
Liu Y et al.
Biomed Research International, 2014
Corneal arcus and xanthomas in homozygous familial hypercholesterolemia: first report from China.
Meng X et al.
Indian Journal of Ophthalmology, 2013
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.
Guardamagna O et al.
The Journal of Pediatrics, 2009
[Familial hypercholesterolemia in St. Petersburg: diversity of mutations argues against a strong founder effect].
Zakharova FM et al.
Genetika, 2007
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso R et al.
Journal of Clinical Lipidology, 0
The therapeutic effect of liver transplantation in 14 children with homozygous familial hypercholesterolemia: A prospective cohort: Liver transplant for familial hypercholesterolemia.
Lin D et al.
Journal of Clinical Lipidology, 0