Associated Papers
Early mortality in children with homozygous familial hypercholesterolemia: Case reports of deaths at ages 5 and 7 and a systematic review of global evidence.
Khan M et al.
Journal of Clinical Lipidology, 2025
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Lipidology, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
PCSK9 Promotes LDLR Degradation by Preventing SNX17-Mediated LDLR Recycling.
Guan Y et al.
Circulation, 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 2025
Familial hypercholesterolemia in Chinese children and adolescents: a multicenter study.
Huang MN et al.
Lipids in Health and Disease, 2024
Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.
Atava I et al.
International Journal of Molecular Sciences, 2024
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 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
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Genetic Spectrum and Cascade Screening of Familial Hypercholesterolemia in Routine Clinical Setting in Hong Kong.
Yip MK et al.
Genes, 2023
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
Latkovskis G et al.
Journal of Clinical Medicine, 2023
Additive Effect of APOE Rare Variants on the Phenotype of Familial Hypercholesterolemia.
Marmontel O et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2023
Targeted sequencing of a gene panel in patients with familial hypercholesterolemia from Southern Poland.
Totoń-Żurańska J et al.
Polish Archives of Internal Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 2022
Genetic Analysis in a Taiwanese Cohort of 750 Index Patients with Clinically Diagnosed Familial Hypercholesterolemia.
Huang CC et al.
Journal of Atherosclerosis and Thrombosis, 2022
Association of the Interaction Between Familial Hypercholesterolemia Variants and Adherence to a Healthy Lifestyle With Risk of Coronary Artery Disease.
Fahed AC et al.
Jama Network Open, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P et al.
Journal of Internal Medicine, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 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
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC et al.
Nature Communications, 2020
Homozygous familial hypercholesterolemia with severe involvement of the aortic valve-A sibling-controlled case study on the efficacy of lipoprotein apheresis.
Galiano M et al.
Journal of Clinical Apheresis, 2020
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Prediction of subtle left ventricular systolic dysfunction in homozygous and heterozygous familial hypercholesterolemia: Genetic analyses and speckle tracking echocardiography study.
Saracoglu E et al.
Echocardiography (mount Kisco, N.y.), 2018
Multimodal lipid-lowering treatment in pediatric patients with homozygous familial hypercholesterolemia-target attainment requires further increase of intensity.
Klaus G et al.
Pediatric Nephrology (berlin, Germany), 2018
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 2018
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.
Chora JR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Spectrum of mutations in index patients with familial hypercholesterolemia in Singapore: Single center study.
Pek SLT et al.
Atherosclerosis, 2018
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
Bourbon M et al.
Current Opinion in Lipidology, 2017
Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.
Korneva VA et al.
Cholesterol, 2017
Functional analysis of four LDLR 5'UTR and promoter variants in patients with familial hypercholesterolaemia.
Khamis A et al.
European Journal of Human Genetics : Ejhg, 2015
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
The cytoplasmic domain is not involved in directing Class 5 mutant LDL receptors to lysosomal degradation.
Strøm TB et al.
Biochemical and Biophysical Research Communications, 2011
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptor.
Elder GA et al.
Journal of Neurochemistry, 2007
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Molecular characterization of familial hypercholesterolemia in German and Greek patients.
Dedoussis GV et al.
Human Mutation, 2004
Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.
Julies MG et al.
European Journal of Human Genetics : Ejhg, 2001
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
Bamimore MA et al.
Journal of Clinical Lipidology, 0
Alirocumab efficacy in patients with double heterozygous, compound heterozygous, or homozygous familial hypercholesterolemia.
Hartgers ML et al.
Journal of Clinical Lipidology, 0