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
Diagnostic Yield of Whole Exome Sequencing in Adult-onset Cholestatic Liver Disease.
Scaravaglio M et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 2025
Prevalence and penetrance of pathogenic and likely pathogenic LDLR and APOB gene variants linked to familial hypercholesterolemia and increased risk of ischemic heart disease.
Dzhumaniiazova IK et al.
Frontiers in Genetics, 2025
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
Genetic and molecular architecture of familial hypercholesterolemia.
Abifadel M et al.
Journal of Internal Medicine, 2023
A Low-Frequency APOB p.(Pro955Ser) Variant Contributes to the Severity of/Variability in Familial Hypercholesterolemia.
Hori M et al.
The Journal of Clinical Endocrinology and Metabolism, 2023
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C et al.
Scientific Reports, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.
Miroshnikova VV et al.
Biomedical Reports, 2021
Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.
Hou YC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2020
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 2018
Short-term effect of rosuvastatin treatment on arterial stiffness in individuals with newly-diagnosed heterozygous familial hypercholesterolemia.
Canepa M et al.
International Journal of Cardiology, 2018
New Sequencing technologies help revealing unexpected mutations in Autosomal Dominant Hypercholesterolemia.
Elbitar S et al.
Scientific Reports, 2018
Impact of rare variants in autosomal dominant hypercholesterolemia causing genes.
Calandra S et al.
Current Opinion in Lipidology, 2017
Genetic Architecture of Familial Hypercholesterolaemia.
Sharifi M et al.
Current Cardiology Reports, 2017
Update on the molecular biology of dyslipidemias.
Ramasamy I
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2016
Structural analysis of APOB variants, p.(Arg3527Gln), p.(Arg1164Thr) and p.(Gln4494del), causing Familial Hypercholesterolaemia provides novel insights into variant pathogenicity.
Fernández-Higuero JA et al.
Scientific Reports, 2015
Improving the cost-effectiveness equation of cascade testing for familial hypercholesterolaemia.
Pears R et al.
Current Opinion in Lipidology, 2015
Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.
Alves AC et al.
Human Molecular Genetics, 2014
Use of commercial genetic testing to help reclassify LDL receptor variants in clinical practice: A case report.
Cabot E et al.
Journal of Clinical Lipidology, 0
Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.
Di Costanzo A et al.
Journal of Clinical Lipidology, 0