Sfoglia per Autore
CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE
2007-01-01 VIVONA, N; DITTA, M; MINA, M; VALENTI, V; POLLACCIA, D; SPINA, R; BARBAGALLO, CM; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
INTERACTION OF THE INTRACELLULAR DOMAIN OF THE LOW DENSITY LIPOPROTEIN (LDL) RECPTOR WITH METALLOTHIONEIN2 (MT2).
2007-01-01 POLLACCIA, D; COSTA, S; NICOSIA, A; VALENTI, V; RAGUSA, M; DITTA, M; SPINA, R; VIVONA, N; GIANGUZZA, F; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS?
2007-01-01 VIVONA, N; DITTA, M; FAYER, F; MINA, M; VALENTI, V; POLLACCIA, D; SPINA, R; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
A novel mutation in the Lipase Maturaction Factor 1 (LMF-1)gene responsible for severe hypertriglyceridemia
2008-01-01 Spina, R; Arpi, ML; Vivona, N; Ditta, M; Fayer, F; Minà, M; Valenti, V; Pollaccia, D; Noto, D; Cefalù, AB; Notarbartolo, A; Vigneti, R; Averna, MR
Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia
2009-01-01 Cefalù, AB; Noto, D; Arpi, ML; Yin, F; Spina, R; Hilden H; Barbagallo, CM; Carroccio, A; Tarugi, P; Squatrito, S; Vigneri, R; Taskinen, MR; Péterfy, M; Averna, M
Metabolomic analysis of plasma from Alzheimer disease patients
2011-01-01 Greco, M; Noto, D; Tralongo, P; Monastero, R; Fayer, F; Cannizzaro, A; Altieri, I; Palesano, O; Spina, R; Valenti, V; Cefalù, AB; Averna, M
LIPIDOMICS OF FATTY LIVER IN NAFLD AND HCV INFECTION: LIVER SPHYNGOLIPIDS AND FATTY ACIDS
2011-01-01 Greco M; Noto D; Petta S; Minà M; Fayer F; Altieri I; Valenti V; Spina R; Craxì A; Averna M
VASCULOPROTECTIVE FUNCTION OF HDL FROM CETP-DEFICIENT SUBJECTS
2011-01-01 Ossoli A; Pozzi S; Nilsson P; Jessup W; Kuivenhoven JA; Spina R; Valenti V; Cefalù AB; Averna M; Sirtori CR; Franceschini G; Calabresi L; Gomaraschi M
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
Le ipertrigliceridemie severe primitive: studio biochimico e genetico-molecolare
2011-04-05 Spina, .
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
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
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
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.
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.
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.
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.
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile