Associated Papers
Primary care providers-initiated screening for familial hypercholesterolemia: a model proposed based on the Kordian primary prevention program for cardiovascular diseases.
Bobrowska B et al.
Polish Archives of Internal Medicine, 2026
Large-Scale Functional Characterization of Low-Density Lipoprotein Receptor Gene Variants Improves Risk Assessment in Cardiovascular Disease.
Islam MM et al.
Jacc. Basic to Translational Science, 2025
40131152 (PubMed )
Supplement: mmc1.pdf
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS7_tiling_screen.xlsx › TableSX_tiling_screen
Fenotipo de hipercolesterolemia familiar definitivo con estudio genético negativo en Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 2020
Phenotype of definite familial hypercholesterolemia with negative genetic study in Argentina.
Corral P et al.
Archivos De Cardiologia De Mexico, 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
Unusual genetic variants associated with hypercholesterolemia in Argentina.
Corral P et al.
Atherosclerosis, 2018
Novel mutations of the PCSK9 gene cause variable phenotype of autosomal dominant hypercholesterolemia.
Allard D et al.
Human Mutation, 2005
Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.
Mozas P et al.
Human Mutation, 2004
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