Associated Papers
New cardiovascular disease markers in patients with familial hypercholesterolemia carriers of genetic variants.
de Paiva Silvino JP et al.
Journal of Diabetes and Metabolic Disorders, 2025
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.
Medeiros AM et al.
Journal of Lipid Research, 2024
High-Throughput Microscopy Characterization of Rare LDLR Variants.
Graça R et al.
Jacc. Basic to Translational Science, 2023
Screening for Familial Hypercholesterolemia in Small Towns: Experience from 11 Brazilian Towns in the Hipercolbrasil Program.
Jannes CE et al.
Arquivos Brasileiros De Cardiologia, 2022
Cascade screening and genetic diagnosis of familial hypercholesterolemia in clusters of the Southeastern region from Brazil.
de Paiva Silvino JP et al.
Molecular Biology Reports, 2020
Compound Heterozygous Familial Hypercholesterolemia Caused by LDLR Variants.
Pamplona-Cunha H et al.
Arquivos Brasileiros De Cardiologia, 2020
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1
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
Low-density lipoprotein receptor mutational analysis in diagnosis of familial hypercholesterolemia.
Bourbon M et al.
Current Opinion in Lipidology, 2017
Update of the Portuguese Familial Hypercholesterolaemia Study.
Medeiros AM et al.
Atherosclerosis, 2010
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