Associated Papers
Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.
Nádró B et al.
Journal of Clinical Medicine, 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
Actionable Genotypes and Their Association with Life Span in Iceland.
Jensson BO et al.
The New England Journal of Medicine, 2023
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
Large-Scale Screening for Monogenic and Clinically Defined Familial Hypercholesterolemia in Iceland.
Björnsson E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 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
Molecular screening of familial hypercholesterolemia in Icelanders.
Kellogg G et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 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
Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.
Paththinige CS et al.
Lipids in Health and Disease, 2018
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
Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.
Johnston JJ et al.
American Journal of Human Genetics, 2015
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
Autosomal recessive nonsyndromic deafness genes: a review.
Duman D et al.
Frontiers in Bioscience (landmark Edition), 2012
Large heterogeneity of mutations in the gene encoding the low-density lipoprotein receptor in subjects with familial hypercholesterolaemia.
Muller PY et al.
Atherosclerosis. Supplements, 2004
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
Liyanage KE et al.
Critical Reviews in Clinical Laboratory Sciences, 0