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
Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.
Mahjoub F et al.
La Tunisie Medicale, 2025
Sudden Cardiac Death Caused by a Fatal Association of Hypertrophic Cardiomyopathy (MYH7, p.Arg719Trp), Heterozygous Familial Hypercholesterolemia (LDLR, p.Gly343Lys) and SARS-CoV-2 B.1.1.7 Infection.
Marziliano N et al.
Diagnostics (basel, Switzerland), 2021
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
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Homozygous familial hypercholesterolemia in childhood: Genotype-phenotype description, established therapies and perspectives.
Sanna C et al.
Atherosclerosis, 2016
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
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
Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
Bamimore MA et al.
Journal of Clinical Lipidology, 0
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