Sfoglia per Autore
PREVALENCE OF ANGPTL3 AND APOB GENE MUTATIONS IN SUBJECTS WITH COMBINED HYPOLIPIDEMIA
2011-01-01 Spina R; Cefalù AB; Noto D; Valenti V; Fayer, F; Pinotti E; Ditta M; Vigna G; Yue P; Schonfeld G; Kathiresan S; Tarugi P; Averna M
Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia
2012-01-01 Spina, R; Crisci, I; Valenti, V; Altieri, GI; Fayer, F; Barbagallo, CM; Noto, D; Cannizzaro, A; Miccoli, R; Cefalù, AB; Averna, M
Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL
2012-01-01 Valenti V; Garlaschelli K; Cefalù AB; Grigore L; Spina R; Uboldi P; Noto D; Norata GD; Ghiglioni D; Fiocchi L; Terracciano L; Zoja A; Catapano AL; Averna M
Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia
2012-01-01 Noto, D; Cefalù, A; Valenti, V; Fayer, F; Pinotti, E; Ditta, M; Spina, R; Vigna, G; Yue, P; Kathiresan, S; Tarugi, P; Averna, M
FUNCTIONAL CHARACTERIZATION OF NOVEL AMINO ACID VARIANTS IN APOB IN FAMILIAL HYPOBETALIPOPROTEINEMIA
2013-01-01 Magnolo, AL; Pinotti, E; Di Leo, E; Valenti, V; Cefalù, AB; Yao, Z; Averna, M; Tarugi, P
A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia.
2013-01-01 Cefalù, AB; Pirruccello, JP; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Spina, R; Tarugi, P; Kathiresan, S; Averna, M
A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA
2013-01-01 Spina, R; Cefalù AB; Pirruccello, JP; Altieri, GI; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Fayer, F; Palesano, O; Tarugi, P; Kathiresan, S; Averna, M
DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH
2014-01-01 Spina, R.; Cefalù, A.; Valenti, V.; Noto, D.; Ingrassia, V.; Scrimali, C.; Spada, M.; Misiano, G.; Altieri, G.; Fayer, F.; Barbagallo, C.; Palesano, O.; Licata, V.; Averna, M.
LA LIPIDOMICA DELLA NON ALCOHOLIC FATTY LIVER DISEASE: ANALISI DELLA CINETICA DELL’ACIDO PALMITICO MEDIANTE L’USO DI UN ISOTOPO STABILE IN UN MODELLO IN VITRO
2014-01-01 Altieri, I.; Indelicato, S.; Palesano, O.; Spina, R.; Misiano, G.; Valenti, V.; Ingrassia, V.; Fayer, F.; Cefalù, A.; Barbagallo, C.; Noto, D.; Gaudio, F.; Averna, M.
NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS
2014-01-01 Ingrassia, V.; Cefalù, A.; Valenti, V.; Noto, D.; Spina, R.; Scrimali, C.; Spada, M.; Misiano, G.; Altieri, G.; Fayer, F.; Barbagallo, C.; Palesano, O.; Licata, V.; Averna, M.
RUOLO DEL POLIMORFISMO ILE148MET DEL GENE PNPLA3 NELLA STEATOSI ASSOCIATA ALLA IPOBETALIPOPROTEINEMIA FAMILIARE
2014-01-01 Palesano, O.; Misiano, G.; Spina, R.; Valenti, V.; Altieri, I.; Ingrassia, V.; Fayer, F.; Leo, E.; Magnolo, L.; Minicocci, I.; Costanzo, A.; Montali, A.; Noto, D.; Cefalù, A.; Tarugi, P.; Arca, M.; Averna, M.
Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature
2015-01-01 Cefalù, A.; Norata, G.; Ghiglioni, D.; Noto, D.; Uboldi, P.; Garlaschelli, K.; Baragetti, A.; Spina, R.; Valenti, V.; Pederiva, C.; Riva, E.; Terracciano, L.; Zoja, A.; Grigore, L.; Averna, M.; Catapano, A.
Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia
2015-01-01 Cefalù, A.; Spina, R.; Noto, D.; Valenti, V.; Ingrassia, V.; Giammanco, A.; Panno, M.; Ganci, A.; Barbagallo, C.; Averna, M.
Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particles trapping to cell surface proteoglycans in a liver hepatoma cell model
2016-01-01 Noto, D.; Fayer, F.; Cefalù, A.; Altieri, I.; Palesano, O.; Spina, R.; Valenti, V.; Pitrone, M.; Pizzolanti, G.; Barbagallo, C.; Giordano, C.; Averna, M.
Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population
2016-01-01 Noto, D.; Cefalu', A.; Barbagallo, C.; Ganci, A.; Cavera, G.; Fayer, F.; Palesano, O.; Spina, R.; Valenti, V.; Altieri, G.; Caldarella, R.; Giammanco, A.; Termini, R.; Burrascano, M.; Crupi, G.; Falletta, A.; Scafidi, V.; Sbordone, D.; La Seta, F.; Averna, M.
Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily
2017-01-01 Giammanco, Antonina; Spina, Rossella; Ingrassia, Valeria; Valenti, Vincenza; Scrimali, Chiara; Misiano, Gabriella; Altieri, Grazia I.; Fayer, Francesca; Barbagallo, Carlo M.; Ganci, Antonina; Noto, Davide; Cefalu', Angelo B.; Averna, Maurizio
Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing
2017-01-01 Cefalu', A; Spina, R; Noto, D; Ingrassia, V.; Valenti, V; Giammanco, A; Fayer, F; Misiano, G; Cocorullo, G; Scrimali, C; Palesano, O; Altieri, G; Ganci, A; Barbagallo, C; Averna, M
Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred
2018-01-01 Spina, R.; Noto, D.; Barbagallo, C.; Monastero, R.; Ingrassia, V.; Valenti, V.; Baschi, R.; Pipitone, A.; Giammanco, A.; La Spada, M.; Misiano, G.; Scrimali, C.; Cefalu', A.; Averna, M.
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