Associated Papers
The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.
Gazzotti M et al.
Frontiers in Genetics, 2022
35795214 (PubMed )
Supplement: DataSheet1.docx
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.
Turkyilmaz A et al.
Metabolic Syndrome and Related Disorders, 2021
The Digenic Causality in Familial Hypercholesterolemia: Revising the Genotype-Phenotype Correlations of the Disease.
Kamar A et al.
Frontiers in Genetics, 2020
High-frequency actionable pathogenic exome variants in an average-risk cohort.
Rego S et al.
Cold Spring Harbor Molecular Case Studies, 2018
30487145 (PubMed )
Supplement: supp_mcs.a003178_Supplemental_File_3.xlsx › Sheet1
The study of familial hypercholesterolemia in Italy: A narrative review.
Bertolini S et al.
Atherosclerosis. Supplements, 2017
Familial Hypercholesterolemia in Greek children and their families: genotype-to-phenotype correlations and a reconsideration of LDLR mutation spectrum.
Mollaki V et al.
Atherosclerosis, 2014
Resistance and intolerance to statins.
Reiner Z
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2014
Spectrum of LDLR gene mutations, including a novel mutation causing familial hypercholesterolaemia, in North-western Greece.
Diakou M et al.
European Journal of Internal Medicine, 2011
Genetic causes of monogenic familial hypercholesterolemia in the Greek population: Lessons, mistakes, and the way forward.
Mollaki V et al.
Journal of Clinical Lipidology, 0
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