Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 2025
Performance of LDL-C only compared to the Dutch Lipid Clinic Network Score for screening of familial hypercholesterolaemia: the Austrian experience and literature review.
Ferch M et al.
European Journal of Preventive Cardiology, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Spectrum and Prevalence of Rare APOE Variants and Their Association with Familial Dysbetalipoproteinemia.
Blokhina AV et al.
International Journal of Molecular Sciences, 2024
Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.
Chamoieva AE et al.
International Journal of Molecular Sciences, 2024
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Array genotyping as diagnostic approach in medical genetics.
Witsch-Baumgartner M et al.
Molecular Genetics & Genomic Medicine, 2022
Assessment of microvascular function and pharmacological regulation in genetically confirmed familial hypercholesterolemia.
Pajkowski M et al.
Microvascular Research, 2021
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
The Prevalence of Heterozygous Familial Hypercholesterolemia in Selected Regions of the Russian Federation: The FH-ESSE-RF Study.
Meshkov AN et al.
Journal of Personalized Medicine, 2021
Genetic basis of hypercholesterolemia in adults.
Saadatagah S et al.
Npj Genomic Medicine, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
A Rare Double Heterozygous Mutation in Low-Density Lipoprotein Receptor and Apolipoprotein B-100 Genes in a Severely Affected Familial Hypercholesterolaemia Patient.
Juhász L et al.
Cureus, 2020
Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders.
Oetjens MT et al.
Nature Communications, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
The use of next-generation sequencing in clinical diagnosis of familial hypercholesterolemia.
Vandrovcova J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2013
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.
Tichý L et al.
Atherosclerosis, 2012
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
Screening of LDLR and APOB gene mutations in Mexican patients with homozygous familial hypercholesterolemia.
Hernández Flores TJ et al.
Journal of Clinical Lipidology, 0