| 2024 |
Do genetically determined very high and very low LDL levels contribute to Lp(a) plasma concentration? |
Articolo in rivista |
Vai |
| 2022 |
Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects: Polygenic hypocholesterolemias |
Articolo in rivista |
Vai |
| 2022 |
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients |
Articolo in rivista |
Vai |
| 2022 |
TGF-β/VEGF-A Genetic Variants Interplay in Genetic Susceptibility to Non-Melanocytic Skin Cancer |
Articolo in rivista |
Vai |
| 2021 |
rs629301 CELSR2 polymorphism confers a ten-year equivalent risk of critical stenosis assessed by coronary angiography |
Articolo in rivista |
Vai |
| 2020 |
Automated untargeted stable isotope assisted lipidomics of liver cells on high glucose shows alteration of sphingolipid kinetics |
Articolo in rivista |
Vai |
| 2020 |
MUTATION IN CANDIDATE GENES ACCOUNT FOR A SMALL MINORITY OF HYPOBETALIPOPROTEINEMIAS AND NGS ANALYSIS SUPPORT POLYGENICITY IN MUTATION-NEGATIVE PATIENTS |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2020 |
PCSK9-D374Y MEDIATED LDL-R DEGRADATION CAN BE FUNCTIONALLY INHIBITED BY EGF-A AND TRUNCATED EGF-A PEPTIDES. AN IN VITRO STUDY |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2020 |
MOLECULAR CHARACTERIZATION OF PATIENTS WITH AND WITHOUT CORONARY ARTERY DISEASE WITH "EXTREME LDL-C PHENOTYPES" |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2020 |
PCSK9-D374Y mediated LDL-R degradation can be functionally inhibited by EGF-A and truncated EGF-A peptides: An in vitro study |
Articolo in rivista |
Vai |
| 2019 |
IDENTIFICATION OF P.LEU167DEL APOE GENE MUTATION BY NEXT GENERATION SEQUENCING IN A LARGE HYPERCHOLESTEROLEMIC FAMILY |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2019 |
PREVALENCE OF STATIN INTOLERANCE IN A COHORT OF OUTPATIENTS IN A LIPID CLINIC |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2018 |
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred |
Articolo in rivista |
Vai |
| 2017 |
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing |
Articolo in rivista |
Vai |
| 2017 |
Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2016 |
Genetic epidemiology of ARH in Sicily |
Abstract in atti di convegno pubblicato in rivista |
Vai |
| 2014 |
NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS |
Proceedings |
Vai |
| 2014 |
DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH |
Proceedings |
Vai |
