Associated Papers
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 2025
Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia.
Levy ME et al.
Circulation. Genomic and Precision Medicine, 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
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
Endophenotype effect sizes support variant pathogenicity in monogenic disease susceptibility genes.
Halford JL et al.
Nature Communications, 2022
[Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents].
Sánchez A et al.
Revista Medica De Chile, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
The molecular genetic background of familial hypercholesterolemia: data from the Slovak nation-wide survey.
Gabčová D et al.
Physiological Research, 2017
Homozygous Familial Hypercholesterolemia in Spain: Prevalence and Phenotype-Genotype Relationship.
Sánchez-Hernández RM et al.
Circulation. Cardiovascular Genetics, 2016
New contributions to the study of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Die Naturwissenschaften, 2011
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene.
Tejedor MT et al.
Molecular Genetics and Genomics : Mgg, 2010
Cardiovascular disease in familial hypercholesterolaemia: influence of low-density lipoprotein receptor mutation type and classic risk factors.
Alonso R et al.
Atherosclerosis, 2008
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.
García-García AB et al.
Human Mutation, 2001
Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
Santos RD 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 island of Gran Canaria: A genetic isolate for familial hypercholesterolemia.
Sánchez-Hernández RM et al.
Journal of Clinical Lipidology, 0