Associated Papers
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Functional characterization of 16 variants found in the LDL receptor gene.
Konečná K et al.
Journal of Lipid Research, 2025
Genetic Spectrum of Lithuanian Familial Hypercholesterolemia Patients.
Aliosaitiene U et al.
Journal of Cardiovascular Development and Disease, 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
Improving the Detection of Potential Cases of Familial Hypercholesterolemia: Could Machine Learning Be Part of the Solution?
Stevens CAT et al.
Journal of the American Heart Association, 2024
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
Low-Cost High-Throughput Genotyping for Diagnosing Familial Hypercholesterolemia.
Ibrahim S et al.
Circulation. Genomic and Precision Medicine, 2023
Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry.
Cuchel M et al.
Journal of the American Heart Association, 2023
Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.
Madar L et al.
Genes, 2022
Genetic testing in ambulatory cardiology clinics reveals high rate of findings with clinical management implications.
Murdock DR et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.
Goodrich JK et al.
Nature Communications, 2021
The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.
Meshkov A et al.
Genes, 2021
Proteostasis Regulation in the Endoplasmic Reticulum: An Emerging Theme in the Molecular Pathology and Therapeutic Management of Familial Hypercholesterolemia.
Oommen D et al.
Frontiers in Genetics, 2020
Familial Hypercholesterolemia in Russia: Three Decades of Genetic Studies.
Vasilyev V et al.
Frontiers in Genetics, 2020
Common and Founder Mutations for Monogenic Traits in Sub-Saharan African Populations.
Krause A et al.
Annual Review of Genomics and Human Genetics, 2018
Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.
Smyth N et al.
Current Opinion in Lipidology, 2018
CRISPR Correction of a Homozygous Low-Density Lipoprotein Receptor Mutation in Familial Hypercholesterolemia Induced Pluripotent Stem Cells.
Omer L et al.
Hepatology Communications, 2017
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
Molecular genetics of familial hypercholesterolemia in Israel-revisited.
Durst R et al.
Atherosclerosis, 2017
The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.
Sharifi M et al.
Metabolism: Clinical and Experimental, 2016
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
Detection of variations and identifying genomic breakpoints for large deletions in the LDLR by Ion Torrent semiconductor sequencing.
Faiz F et al.
Atherosclerosis, 2013
[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].
Korneva VA et al.
Kardiologiia, 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 basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A et al.
Circulation, 2011
Development of a high-resolution melting method for mutation detection in familial hypercholesterolaemia patients.
Whittall RA et al.
Annals of Clinical Biochemistry, 2010
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.
Chmara M et al.
Journal of Applied Genetics, 2010
Multiplex ligation-dependent probe amplification analysis to screen for deletions and duplications of the LDLR gene in patients with familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2009
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.
Taylor A et al.
Clinical Genetics, 2007
Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.
Humphries SE et al.
Journal of Molecular Medicine (berlin, Germany), 2006
The UMD-LDLR database: additions to the software and 490 new entries to the database.
Villéger L et al.
Human Mutation, 2002
Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.
Liyanage KE et al.
Critical Reviews in Clinical Laboratory Sciences, 0
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Guerin A et al.
Cmaj Open, 0