Associated Papers
Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases.
Bobrowska B et al.
Polish Archives of Internal Medicine, 2026
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
Child-parent cascade screening for familial hypercholesterolemia in Slovenia: Insights from the pilot program.
Šikonja J et al.
Atherosclerosis, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 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
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
Wiegman A et al.
Circulation, 2025
Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.
Zahwo RA et al.
Human Genomics, 2025
Evinacumab for Homozygous Familial Hypercholesterolemia: The Italian Cohort of the ELIPSE HoFH Study.
Iannuzzo G et al.
Advances in Therapy, 2025
[Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital Center].
Radojkovic C et al.
Revista Medica De Chile, 2025
Validation of the NovaSeq6000 platform and automated library preparation for CE-IVD equivalence.
Pasquinelli E et al.
Computational and Structural Biotechnology Journal, 2025
Long-term effectiveness and safety of lomitapide in patients with homozygous familial hypercholesterolemia: an observational case series.
Suppressa P et al.
Orphanet Journal of Rare Diseases, 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
Evolocumab Treatment in Pediatric Patients With Homozygous Familial Hypercholesterolemia: Pooled Data From Three Open-Label Studies.
Raal FJ et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
Low-density lipoprotein receptor genotypes modify the sera metabolome of patients with homozygous familial hypercholesterolemia.
Du Z et al.
Iscience, 2022
2022 Consensus statement on the management of familial hypercholesterolemia in Korea.
Lee CJ et al.
The Korean Journal of Internal Medicine, 2022
Phenotypic and Genetic Analyses of Korean Patients with Familial Hypercholesterolemia: Results from the KFH Registry 2020.
Kim H et al.
Journal of Atherosclerosis and Thrombosis, 2022
Effects of statins on the inducible degrader of low-density lipoprotein receptor in familial hypercholesterolemia.
Chan ML et al.
Endocrine Connections, 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
Fast and Easy Nanopore Sequencing Workflow for Rapid Genetic Testing of Familial Hypercholesterolemia.
Soufi M et al.
Frontiers in Genetics, 2022
Effects of Different Types of Pathogenic Variants on Phenotypes of Familial Hypercholesterolemia.
Tada H et al.
Frontiers in Genetics, 2022
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
Gazzotti M et al.
Frontiers in Genetics, 2022
Assessment of microvascular function and pharmacological regulation in genetically confirmed familial hypercholesterolemia.
Pajkowski M et al.
Microvascular Research, 2021
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
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
Turkyilmaz A et al.
Metabolic Syndrome and Related Disorders, 2021
Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.
Doi T et al.
Journal of the American Heart Association, 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
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions.
Fahed AC et al.
Nature Communications, 2020
The benign c.344G > A: p.(Arg115His) variant in the LDLR gene interpreted from a pedigree-based genetic analysis of familial hypercholesterolemia.
Hori M et al.
Lipids in Health and Disease, 2020
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 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
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Di Taranto MD et al.
Journal of Clinical Medicine, 2020
Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Genetics of Familial Hypercholesterolemia: New Insights.
Vrablik M et al.
Frontiers in Genetics, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Genetic Determinants of Myocardial Infarction Risk in Familial Hypercholesterolemia.
Zhao PJ et al.
Cjc Open, 2019