Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.
Lordfard S et al.
Cjc Open, 2025
Efficacy and Safety of Inclisiran in Adolescents With Genetically Confirmed Homozygous Familial Hypercholesterolemia: Results From the Double-Blind, Placebo-Controlled Part of the ORION-13 Randomized Trial.
Wiegman A et al.
Circulation, 2025
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
Efficacy and Safety of Alirocumab in Children and Adolescents With Homozygous Familial Hypercholesterolemia: Phase 3, Multinational Open-Label Study.
Bruckert E et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2022
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
ANGPTL3 Inhibition With Evinacumab Results in Faster Clearance of IDL and LDL apoB in Patients With Homozygous Familial Hypercholesterolemia-Brief Report.
Reeskamp LF et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2021
Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.
Dron JS et al.
Bmc Medical Genomics, 2020
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.
Banerjee P et al.
Arteriosclerosis, Thrombosis, and Vascular Biology, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Validation of LDLr Activity as a Tool to Improve Genetic Diagnosis of Familial Hypercholesterolemia: A Retrospective on Functional Characterization of LDLr Variants.
Benito-Vicente A et al.
International Journal of Molecular Sciences, 2018
Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns.
Hopkins PN et al.
Current Opinion in Lipidology, 2017
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
Kindt I et al.
Cholesterol, 2013
Assessment of carotid atherosclerosis in normocholesterolemic individuals with proven mutations in the low-density lipoprotein receptor or apolipoprotein B genes.
Huijgen R et al.
Circulation. Cardiovascular Genetics, 2011
An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.
Dušková L et al.
Atherosclerosis, 2011
Founder mutations in the Netherlands: geographical distribution of the most prevalent mutations in the low-density lipoprotein receptor and apolipoprotein B genes.
Kusters DM et al.
Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2011
Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.
van der Graaf A et al.
Circulation, 2011
Functionality of sequence variants in the genes coding for the low-density lipoprotein receptor and apolipoprotein B in individuals with inherited hypercholesterolemia.
Huijgen R et al.
Human Mutation, 2010
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia.
Mihaylov VA et al.
Journal of Human Genetics, 2004
Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.
Nauck MS et al.
Human Mutation, 2001
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
The clinical and molecular diversity of homozygous familial hypercholesterolemia in children: Results from the GeneTics of clinical homozygous hypercholesterolemia (GoTCHA) study.
Luirink IK et al.
Journal of Clinical Lipidology, 0
Genetic testing for familial hypercholesterolemia in Quebec, Canada: a single-centre retrospective cohort study.
Guerin A et al.
Cmaj Open, 0