FRESA, RAFFAELE
FRESA, RAFFAELE
100007 - Dipartimento di Medicina interna e specialità mediche
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)
2015-01-01 Pisciotta, Livia; Vitali, Cecilia; Favari, Elda; Fossa, Paola; Adorni, Maria Pia; Leone, Daniela; Artom, Nathan; Fresa, Raffaele; Calabresi, Laura; Calandra, Sebastiano; Bertolini, Stefano
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia
2006-01-01 Pisciotta, Livia; Oliva, Cp; Cefalu, Ab; Noto, D; Bellocchio, A; Fresa, R; Cantafora, A; Patel, D; Averna, M; Tarugi, P; Calandra, S; Bertolini, Stefano
Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene.
2009-01-01 Pisciotta, Livia; Fresa, Raffaele; Bellocchio, A; Pino, E; Guido, V; Cantafora, A; Di Rocco, M; Calandra, S; Bertolini, Stefano
Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study
2021-01-01 Pasta, A.; Borro, P.; Cremonini, A. L.; Formisano, E.; Tozzi, G.; Cecchi, S.; Fresa, R.; Labanca, S.; Djahandideh, A.; Sukkar, S. G.; Picciotto, A.; Pisciotta, L.
Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.
2007-01-01 Pisciotta, Livia; Fasano, T; Bellocchio, A; Bocchi, L; Sallo, R; Fresa, Raffaele; Colangeli, I; Cantafora, A; Calandra, S; Bertolini, Stefano
Evaluation of the efficacy of plant sterols supplement sterolip® ESI in patients with type IIA hypercholesterolemia in relation to Genetic variants modulating intestinal absorption of cholesterol
2021-01-01 Cremonini, Anna Laura; Formisano, Elena; Pasta, Andrea; Borgarelli, Consuelo; Fresa, Raffaele; Pisciotta, Livia
Hypoalpha-hypobetalipoproteinemia (Familial Combined Hypolipidemia) caused by loss of function mutations of ANGPTL3 gene.
2011-01-01 Pisciotta, L; Di Leo, E; Tarugi, P; Fresa, R; Zavaroni, I; Ardigò, D; Guido, V; Bertolini, S; Calandra, S
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.
2013-01-01 Bertolini, S; Pisciotta, L; Rabacchi, C; Cefalù, Ab; Noto, D; Fasano, T; Signori, A; Fresa, R; Averna, M; Calandra, S
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia
2015-01-01 Rabacchi, Claudio; Pisciotta, Livia; Cefalù, Angelo B.; Noto, Davide; Fresa, Raffaele; Tarugi, Patrizia; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla) | 1-gen-2015 | Pisciotta, Livia; Vitali, Cecilia; Favari, Elda; Fossa, Paola; Adorni, Maria Pia; Leone, Daniela; Artom, Nathan; Fresa, Raffaele; Calabresi, Laura; Calandra, Sebastiano; Bertolini, Stefano | |
| Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia | 1-gen-2006 | Pisciotta, Livia; Oliva, Cp; Cefalu, Ab; Noto, D; Bellocchio, A; Fresa, R; Cantafora, A; Patel, D; Averna, M; Tarugi, P; Calandra, S; Bertolini, Stefano | |
| Cholesteryl Ester Storage Disease (CESD) due to novel mutations in the LIPA gene. | 1-gen-2009 | Pisciotta, Livia; Fresa, Raffaele; Bellocchio, A; Pino, E; Guido, V; Cantafora, A; Di Rocco, M; Calandra, S; Bertolini, Stefano | |
| Effect of a common missense variant in LIPA gene on fatty liver disease and lipid phenotype: New perspectives from a single-center observational study | 1-gen-2021 | Pasta, A.; Borro, P.; Cremonini, A. L.; Formisano, E.; Tozzi, G.; Cecchi, S.; Fresa, R.; Labanca, S.; Djahandideh, A.; Sukkar, S. G.; Picciotto, A.; Pisciotta, L. | |
| Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients. | 1-gen-2007 | Pisciotta, Livia; Fasano, T; Bellocchio, A; Bocchi, L; Sallo, R; Fresa, Raffaele; Colangeli, I; Cantafora, A; Calandra, S; Bertolini, Stefano | |
| Evaluation of the efficacy of plant sterols supplement sterolip® ESI in patients with type IIA hypercholesterolemia in relation to Genetic variants modulating intestinal absorption of cholesterol | 1-gen-2021 | Cremonini, Anna Laura; Formisano, Elena; Pasta, Andrea; Borgarelli, Consuelo; Fresa, Raffaele; Pisciotta, Livia | |
| Hypoalpha-hypobetalipoproteinemia (Familial Combined Hypolipidemia) caused by loss of function mutations of ANGPTL3 gene. | 1-gen-2011 | Pisciotta, L; Di Leo, E; Tarugi, P; Fresa, R; Zavaroni, I; Ardigò, D; Guido, V; Bertolini, S; Calandra, S | |
| Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy. | 1-gen-2013 | Bertolini, S; Pisciotta, L; Rabacchi, C; Cefalù, Ab; Noto, D; Fasano, T; Signori, A; Fresa, R; Averna, M; Calandra, S | |
| Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia | 1-gen-2015 | Rabacchi, Claudio; Pisciotta, Livia; Cefalù, Angelo B.; Noto, Davide; Fresa, Raffaele; Tarugi, Patrizia; Averna, Maurizio; Bertolini, Stefano; Calandra, Sebastiano |