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
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
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
FH ALERT: efficacy of a novel approach to identify patients with familial hypercholesterolemia.
Fath F et al.
Scientific Reports, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemia.
Alves AC et al.
Atherosclerosis, 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
Dyslipidemia: Genetics, lipoprotein lipase and HindIII polymorphism.
Palacio Rojas M et al.
F1000research, 0
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