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BERTOLINI, STEFANO

BERTOLINI, STEFANO  

100007 - Dipartimento di Medicina interna e specialità mediche  

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A 33-year-old man with nephrotic syndrome and lecithin-cholesterol acyltransferase (LCAT) deficiency. Description of two new mutations in the LCAT gene 1-gen-2004 Frasca', Gm; Soverini, L; Tampieri, E; Franceschini, G; Calabresi, L; Pisciotta, Livia; Preda, P; Vangelista, A; Stefoni, S; Bertolini, Stefano
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
A large deletion in the LDL-receptor gene. The cause of Familial Hypercholesterolemia in three italian families: a study that dates back to the 17th century (FH Pavia). 1-gen-1992 Bertolini, Stefano; Lelli, N; Coviello, Da; Ghisellini, M; Masturzo, Paola; Tiozzo, R; Elicio, N; Gaddi, A; Calandra, S.
A new missense mutation (Cys297-->Phe) of the low density lipoprotein receptor in Italian patients with familial hypercholesterolemia (FHTrieste). 1-gen-1994 Lelli, N; Garuti, R; Pedrazzi, P; Ghisellini, M; Simone, Ml; Tiozzo, R; Cattin, L; Valenti, M; Rolleri, M; Bertolini, Stefano
A novel mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia 1-gen-2008 Pisciotta, Livia; Fasano, T.; Calabresi, L.; Bellocchio, A.; Fresa, R.; Borrini, C.; Calandra, S.; Bertolini, Stefano
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia. 1-gen-2006 Priore Oliva, C; Tarugi, P; Calandra, S; Pisciotta, Livia; Bellocchio, A; Bertolini, Stefano; Guardamagna, O; Schaap, Fg
A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease 1-gen-2001 Bertolini, Stefano; Pisciotta, Livia; Seri, M; Cusano, R; Cantafora, A; Calabresi, L; Franceschini, G; Ravazzolo, Roberto; Calandra, S.
A silent mutation of Niemann-Pick C1-like 1 and apolipoprotein E4 modulate cholesterol absorption in primary hyperlipidemias. 1-gen-2013 Lupattelli, G; Pisciotta, Livia; De Vuono, S; Siepi, D; Bellocchio, A; Melis, F; Bertolini, Stefano; Pirro, M; Mannarino, E.
A study of fatty liver disease and plasma lipoproteins in a kindred with Familial Hypobeta-lipoproteinemia due to a novel truncated form of apolipoprotein B (Apo B 54.5). 1-gen-2000 Tarugi, P; Lonardo, A; Ballarini, G; Erspamer, L; Tondelli, E; Bertolini, Stefano; Calandra, S.
A Third Major Locus for Autosomal Dominant Hypercholesterolemia maps at 1p34.1-p32. 1-gen-1999 Varret, M; Rabes, Jp; SAINT JORE, B; Cenarro, A; Marinoni, J. C.; Civeira, F; Devillers, M; Krempf, M; Coulon, M; Thiart, R; Kotze, Mj; Schmidt, H; Buzzi, J. C.; Kostner, Gm; Bertolini, Stefano; Pocovi, M; Rosa, A; Farnier, M; Martinez, M; Junien, C; Boileau, C.
A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment. 1-gen-2013 Stefanutti, C; Gozzer, M; Pisciotta, Livia; D'Eufemia, P; Bosco, G; Morozzi, C; Papadia, F; Shafii, M; Di Giacomo, S; Bertolini, Stefano
A ‘de novo’ point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia 1-gen-1998 Cassanelli, S; Bertolini, Stefano; Rolleri, M; DE STEFANO, Francesco; Casarino, L; Elicio, N; Naselli, A; Calandra, S.
A “de novo” mutation of the LDL-receptor gene as the cause of familial hypercholesterolemia. 1-gen-2002 Pisciotta, Livia; Cantafora, A; DE STEFANO, Francesco; Langheim, S; Calandra, S; Bertolini, Stefano
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinemia. 1-gen-2007 DI LEO, E; Magnolo, L; Lancellotti, S; Croce, L; Visintin, L; Tiribelli, C; Bertolini, Stefano; Calandra, S; Tarugi, P.
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2 +5G>C mutation in ABCA1 gene 1-gen-2003 Altilia, S; Pisciotta, Livia; Garuti, R; Tarugi, P.; Cantafora, A.; Calabresi, L; Tagliabue, J; Maccari, S; Bernini, F; Vergani, C; Bertolini, Stefano; Calandra, S.
Adaptor protein ARH is recruited to the plasma membrane by LDL binding and modulates endocytosis of the LDL/LDLR complex in hepatocytes. 1-gen-2005 Sirinian, Mi; Belleudi, F; Campagna, F; Ceridonio, M; Garofalo, T; Quagliarini, F; Verna, R; Calandra, S; Bertolini, Stefano; Sorice, M; Torrisi, Mr; Arca, M.
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
Altered mRNA splicing in lipoprotein disorders. 1-gen-2011 S., Calandra; P., Tarugi; Bertolini, Stefano
Alternative splicing of mutant LDL-receptor mRNA in an Italian patient with familial hypercholesterolemia due to a partial deletion of LDL-receptor gene (FH Potenza). 1-gen-1993 Lelli, N; Garuti, R; Zambelli, F; Cassanelli, R; Tiozzo, R; Corsini, A; Bertolini, Stefano; Riva, E; Ortisi, Mt; Bell, R; Calandra, S.
Among biomarkers of neutrophil activity, matrix metalloproteinases 8 independently predicts remission of metabolic syndrome 1-gen-2022 Carbone, Federico; Elia, Edoardo; Casula, Matteo; Bonaventura, Aldo; Bertolotto, Maria; Minetti, Silvia; Artom, Nathan; Camici, Giovanni G; Contini, Paola; Pontremoli, Roberto; Viazzi, Francesca; Bertolini, Stefano; Pende, Aldo; Pisciotta, Livia; Montecucco, Fabrizio; Liberale, Luca