TARUGI, Patrizia Maria

TARUGI, Patrizia Maria  

Dipartimento di Scienze della Vita  

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A 54-year-old diabetic man with low serum cholesterol 1-gen-2012 Turk, U.; Basol, G.; Barutcuoglu, B.; Sahin, F.; Habif, S.; Tarugi, P.; Bayindir, O.
A 54-year-old diabetic man with low serum cholesterol. 1-gen-2012 Turk, U; Basol, G; Barutcuoglu, B; Sahin, F; Habif, S; Tarugi, Patrizia Maria; Bayindir, O.
A novel APOB mutation identified by exome sequencing cosegregates with steatosis, liver cancer, and hypocholesterolemia. 1-gen-2013 Cefalù, Ab; Pirruccello, Jp; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Spina, R; Tarugi, Patrizia Maria; Kathiresan, S; Averna, M. R.
A novel homozygous mutation in CETP gene as a cause of CETP deficiency in a caucasian kindred 1-gen-2009 Calabresi, L; Nilsson, P; Pinotti, Elisa; Gomaraschi, M; Favari, E; Adorni, Mp; Bernini, F; Sirtori, Cr; CALANDRA BUONAURA, Sebastiano; Franceschini, G; Tarugi, Patrizia Maria
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol 1-gen-2007 Fasano, Tommaso; Cefalu, Ab; Di Leo, E; Noto, D; Pollaccia, D; Bocchi, Letizia; Valenti, V; Bonardi, R; Guardamagna, O; Averna, M; Tarugi, Patrizia Maria
A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia 1-gen-2006 PRIORE OLIVA, Claudio; Tarugi, Patrizia Maria; CALANDRA BUONAURA, Sebastiano; L., Pisciotta; A., Bellocchio; S., Bertolini; O., Guardamagna; Fg, Schaap
A point mutation in the lariat branch point of intron 6 of NPC1 as the cause of abnormal pre-mRNA splicing in Niemann-Pick type C disease. 1-gen-2004 Di Leo, E; Panico, Francesca; Tarugi, Patrizia Maria; Battisti, C; Federico, A; CALANDRA BUONAURA, Sebastiano
A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (apo B-54.5) 1-gen-2000 Tarugi, Patrizia Maria; Lonardo, A.; Ballarini, G.; Erspamer, L.; Tondelli, E.; Bertolini, S.; CALANDRA BUONAURA, Sebastiano
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum(PXE). 1-gen-2004 Gheduzzi, Dealba; Guidetti, Rita; Anzivino, Claudia; Tarugi, Patrizia Maria; DI LEO, E; Quaglino, Daniela; Ronchetti, Ivonne
Abetalipoproteinemia in an infant with severe clinical phenotype and a novel mutation 1-gen-2010 N., Uslu; F., Gürakan; A., Yüce; H., Demir; Tarugi, Patrizia Maria
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia 1-gen-2007 Di Leo, E; Magnolo, Antonia Lucia; Lancellotti, Sandra; Crocè, L; Visintin, L; Tiribelli, C; Bertolini, S; CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria
Abnormal splicing of ABCA1 pre-mRNA in Tangier disease due to a IVS2+5G > C mutation in ABCA1 gene 1-gen-2003 S., Altilia; L., Pisciotta; R., Garuti; Tarugi, Patrizia Maria; A., Cantafora; L., Calabresi; J., Tagliabue; S., Maccari; F., Bernini; I., Zanotti; C., Vergani; S., Bertolini; CALANDRA BUONAURA, Sebastiano
Absence of apolipoprotein B-48 in the chick, Gallus domesticus 1-gen-1990 Tarugi, Patrizia Maria; Albertazzi, L; Nicolini, S; CALANDRA BUONAURA, Sebastiano
Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia 1-gen-2006 L., Pisciotta; PRIORE OLIVA, Claudio; Ab, Cefalu; D., Noto; A., Bellocchio; R., Fresa; A., Cantafora; D., Patel; M., Averna; Tarugi, Patrizia Maria; CALANDRA BUONAURA, Sebastiano; S., Bertolini
Adult-onset Niemann-Pick type C disease: A clinical, neuroimaging, and molecular genetic study 1-gen-2003 C., Battisti; Tarugi, Patrizia Maria; Mt, Dotti; N., De Stefano; A., Vattimo; F., Chierichetti; CALANDRA BUONAURA, Sebastiano; A., Federico
Altered mRNA splicing in lipoprotein disorders 1-gen-2011 CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria; Bertolini, S.
Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia 1-gen-2019 Tarugi, P.; Bertolini, S.; Calandra, S.
APOA5 and trigliceride metabolism, lesson from human APOA5 deficiency. 1-gen-2006 CALANDRA BUONAURA, Sebastiano; PRIORE OLIVA, Claudio; Tarugi, Patrizia Maria; Bertolini, S.
Apolipoprotein B-100 production and cholesteryl ester content in the liver of developing chick 1-gen-1994 Tarugi, Patrizia Maria; Nicolini, S; Marchi, L; Ballarini, G; CALANDRA BUONAURA, Sebastiano
Association between familial hypobetalipoproteinemia and the risk of diabetes. Is this the other side of the cholesterol–diabetes connection? A systematic review of literature 1-gen-2017 Noto, D; Arca, M; Tarugi, Patrizia Maria; Cefalu`, Ab; Barbagallo, Cm; Averna, M.