Associated Papers
First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.
Ncir WB et al.
Journal of Cellular and Molecular Medicine, 2026
LDLR variant classification through activity-normalized prime editing screening.
Zhou PJ et al.
Biorxiv : the Preprint Server for Biology, 2025
Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.
Mahjoub F et al.
La Tunisie Medicale, 2025
OptiMo-LDLr: An Integrated In Silico Model with Enhanced Predictive Power for LDL Receptor Variants, Unraveling Hot Spot Pathogenic Residues.
Larrea-Sebal A et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2024
Molecular modeling of LDLR aids interpretation of genomic variants.
Klee EW et al.
Journal of Molecular Medicine (berlin, Germany), 2019
Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.
Jelassi A et al.
Current Genomics, 2013
Genomic characterization of two deletions in the LDLR gene in Tunisian patients with familial hypercholesterolemia.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012
Effect of mutations in LDLR and PCSK9 genes on phenotypic variability in Tunisian familial hypercholesterolemia patients.
Slimani A et al.
Atherosclerosis, 2012
Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.
Garcia-Garcia AB et al.
Atherosclerosis, 2011
Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.
Jelassi A et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2010
Limited mutational heterogeneity in the LDLR gene in familial hypercholesterolemia in Tunisia.
Jelassi A et al.
Atherosclerosis, 2009
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
A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.
Heath KE et al.
European Journal of Human Genetics : Ejhg, 2001