Associated Papers
Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.
Timoshchenko O et al.
International Journal of Molecular Sciences, 2026
Severe hypercholesterolemia in a pediatric cohort: Familial homozygous and autosomal recessive hypercholesterolemia.
Yazıcı H et al.
Journal of Clinical Lipidology, 2025
A Novel Screening Approach for Familial Hypercholesterolemia: A Genetic Study on Patients Detected Using Preexisting Centralized Analytics.
Sánchez-Prieto J et al.
Journal of Clinical Medicine, 2025
Isogenic induced pluripotent stem cell line ICGi036-A-1 from a patient with familial hypercholesterolaemia, derived by correcting a pathogenic variant of the gene LDLR c.530C>T.
Zueva AS et al.
Vavilovskii Zhurnal Genetiki I Selektsii, 2025
Efficacy, Safety, and Tolerability of Inclisiran in Patients With Homozygous Familial Hypercholesterolemia: Results From the ORION-5 Randomized Clinical Trial.
Raal F et al.
Circulation, 2024
iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia.
Zakharova IS et al.
International Journal of Molecular Sciences, 2024
Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.
Timoshchenko O et al.
International Journal of Molecular Sciences, 2023
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Calling and Phasing of Single-Nucleotide and Structural Variants of the LDLR Gene Using Oxford Nanopore MinION.
Nazarenko MS et al.
International Journal of Molecular Sciences, 2023
Induced pluripotent stem cell line ICGi036-A generated by reprogramming peripheral blood mononuclear cells from a patient with familial hypercholesterolemia caused due to compound heterozygous p.Ser177Leu/p.Cys352Arg mutations in LDLR.
Zakharova IS et al.
Stem Cell Research, 2022
Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).
Shakhtshneider E et al.
Journal of Personalized Medicine, 2021
Endocytic Protein Defects in the Neural Crest Cell Lineage and Its Pathway Are Associated with Congenital Heart Defects.
Arrigo AB et al.
International Journal of Molecular Sciences, 2021
Improving Familial Hypercholesterolemia Index Case Detection: Sequential Active Screening from Centralized Analytical Data.
Sabatel-Pérez F et al.
Journal of Clinical Medicine, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.
Semenova AE et al.
Journal of Cardiovascular Development and Disease, 2020
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
Diagnosis of families with familial hypercholesterolaemia and/or Apo B-100 defect by means of DNA analysis of LDL-receptor gene mutations.
Widhalm K et al.
Journal of Inherited Metabolic Disease, 2007
Investigation of the genetic background of familial hypercholesterolemia in a Turkish cohort and its clinical implications.
Kındış E et al.
Journal of Clinical Lipidology, 0