Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.
Katsanis N et al.
Human Genomics, 2025
Homozygous Familial Hypercholesterolemia in Spain: Data From Registry of the Spanish Atherosclerosis Society.
Sánchez-Hernández RM et al.
The Journal of Clinical Endocrinology and Metabolism, 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
Genetic Identification of Homozygous Familial Hypercholesterolemia by Long-Read Sequencing Among Patients With Clinically Diagnosed Heterozygous Familial Hypercholesterolemia.
Chaudhry A et al.
Circulation. Genomic and Precision Medicine, 2023
Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.
Resdal Dyssekilde J et al.
Journal of the American Heart Association, 2022
Pilot study of universal screening of children and child-parent cascade testing for familial hypercholesterolaemia in Australia.
Martin AC et al.
Journal of Paediatrics and Child Health, 2022
Founder effects facilitate the use of a genotyping-based approach to molecular diagnosis in Swedish patients with familial hypercholesterolaemia.
Benedek P et al.
Journal of Internal Medicine, 2021
Mutation spectrum and polygenic score in German patients with familial hypercholesterolemia.
Rieck L et al.
Clinical Genetics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
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
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
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
Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women.
Balder JW et al.
Circulation, 2018
Genotype-guided diagnosis in familial hypercholesterolemia: clinical management and concerns.
Hopkins PN et al.
Current Opinion in Lipidology, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.
Jannes CE et al.
Atherosclerosis, 2015
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Futema M et al.
Journal of Medical Genetics, 2014
Lipoprotein(a) levels in familial hypercholesterolemia: an important predictor of cardiovascular disease independent of the type of LDL receptor mutation.
Alonso R et al.
Journal of the American College of Cardiology, 2014
Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.
Kindt I et al.
Cholesterol, 2013
Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.
Futema M et al.
Journal of Medical Genetics, 2012
Discriminative ability of LDL-cholesterol to identify patients with familial hypercholesterolemia: a cross-sectional study in 26,406 individuals tested for genetic FH.
Huijgen R et al.
Circulation. Cardiovascular Genetics, 2012
Molecular characterization of familial hypercholesterolemia in Spain.
Palacios L et al.
Atherosclerosis, 2012
Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R et al.
Human Mutation, 2012
New contributions to the study of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Die Naturwissenschaften, 2011
Mutational analysis of the LDL receptor and APOB genes in Mexican individuals with autosomal dominant hypercholesterolemia.
Vaca G et al.
Atherosclerosis, 2011
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
Evaluation of high-resolution melting analysis for screening the LDL receptor gene.
Laurie AD et al.
Clinical Biochemistry, 2009
Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.
Civeira F et al.
Journal of the American College of Cardiology, 2008
Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.
Wright WT et al.
Clinical Genetics, 2008
What is the clinical utility of DNA testing in patients with familial hypercholesterolaemia?
Humphries SE et al.
Current Opinion in Lipidology, 2008
Update and analysis of the University College London low density lipoprotein receptor familial hypercholesterolemia database.
Leigh SE et al.
Annals of Human Genetics, 2008
Molecular genetic analysis of 1053 Danish individuals with clinical signs of familial hypercholesterolemia.
Brusgaard K et al.
Clinical Genetics, 2006
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred.
Haddad L et al.
Journal of Lipid Research, 1999
Two mutations in the same low-density lipoprotein receptor allele act in synergy to reduce receptor function in heterozygous familial hypercholesterolemia.
Jensen HK et al.
Human Mutation, 1997
Clinical and molecular characteristics of homozygous familial hypercholesterolemia patients: Insights from SAFEHEART registry.
Alonso R et al.
Journal of Clinical Lipidology, 0
Double-heterozygous autosomal dominant hypercholesterolemia: Clinical characterization of an underreported disease.
Sjouke B et al.
Journal of Clinical Lipidology, 0
Autosomal dominant hypercholesterolemia in Catalonia: Correspondence between clinical-biochemical and genetic diagnostics in 967 patients studied in a multicenter clinical setting.
Martín-Campos JM 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