Associated Papers
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 2025
LDLR gene rearrangements in Czech FH patients likely arise from one mutational event.
Konečná K et al.
Lipids in Health and Disease, 2024
Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia.
Lv X et al.
Lipids in Health and Disease, 2023
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Managing Relevant Clinical Conditions of Hemophilia A/B Patients.
Morfini M et al.
Hematology Reports, 2023
Hypercholesterolemia in the Malaysian Cohort Participants: Genetic and Non-Genetic Risk Factors.
Abdul Murad NA et al.
Genes, 2023
Modulation of factor VIII pharmacokinetics by genetic components in factor VIII receptors.
Lunghi B et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2023
Current Understanding of Inherited Modifiers of FVIII Pharmacokinetic Variation.
Swystun LL et al.
Pharmacogenomics and Personalized Medicine, 2023
Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.
Vlad CE et al.
Journal of Clinical Medicine, 2021
PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.
Zhang C et al.
Genome Biology, 2019
Functional polymorphisms in the LDLR and pharmacokinetics of Factor VIII concentrates.
Lunghi B et al.
Journal of Thrombosis and Haemostasis : Jth, 2019
Medical implications of technical accuracy in genome sequencing.
Goldfeder RL et al.
Genome Medicine, 2016
The rs1803274 polymorphism of the BCHE gene is associated with an increased risk of coronary in-stent restenosis.
Pleva L et al.
Bmc Cardiovascular Disorders, 2015
A Splice Region Variant in LDLR Lowers Non-high Density Lipoprotein Cholesterol and Protects against Coronary Artery Disease.
Gretarsdottir S et al.
Plos Genetics, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).
Cymbron T et al.
Meta Gene, 2014
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
Carmi S et al.
Nature Communications, 2014
Common and rare single nucleotide polymorphisms in the LDLR gene are present in a black South African population and associate with low-density lipoprotein cholesterol levels.
van Zyl T et al.
Journal of Human Genetics, 2014
Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.
Larsen MK et al.
Journal of Forensic Sciences, 2012
Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.
Al-Khateeb A et al.
Bmc Medical Genetics, 2011
Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.
Martinelli N et al.
Blood, 2010
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Clinically applicable mutation screening in familial hypercholesterolemia.
Nissen H et al.
Human Mutation, 1996