TARUGI, Patrizia Maria
TARUGI, Patrizia Maria
Dipartimento di Scienze della Vita
A 54-year-old diabetic man with low serum cholesterol
2012-01-01 Turk, U.; Basol, G.; Barutcuoglu, B.; Sahin, F.; Habif, S.; Tarugi, P.; Bayindir, O.
A 54-year-old diabetic man with low serum cholesterol.
2012-01-01 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.
2013-01-01 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.
2009-01-01 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
2007-01-01 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 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.
2004-01-01 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)
2000-01-01 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).
2004-01-01 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
2010-01-01 N., Uslu; F., Gürakan; A., Yüce; H., Demir; Tarugi, Patrizia Maria
Abnormal apolipoprotein B pre-mRNA splicing in patients with familial hypobetalipoproteinaemia
2007-01-01 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
2003-01-01 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
1990-01-01 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
2006-01-01 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
2003-01-01 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.
2011-01-01 CALANDRA BUONAURA, Sebastiano; Tarugi, Patrizia Maria; Bertolini, S.
Angiopoietin-like protein 3 (ANGPTL3) deficiency and familial combined hypolipidemia
2019-01-01 Tarugi, P.; Bertolini, S.; Calandra, S.
APOA5 and trigliceride metabolism, lesson from human APOA5 deficiency.
2006-01-01 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
1994-01-01 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
2017-01-01 Noto, D; Arca, M; Tarugi, Patrizia Maria; Cefalu`, Ab; Barbagallo, Cm; Averna, M.
Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia
2004-01-01 CALANDRA BUONAURA, Sebastiano; S., Bertolini; Gm, Pes; L., Deiana; Tarugi, Patrizia Maria; L., Pisciotta; S., LI VOLTI; G., LI VOLTI; C., Maccarone
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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. | |
| Beta-thalassemia is a modifying factor of the clinical expression of familial hypercholesterolemia | 1-gen-2004 | CALANDRA BUONAURA, Sebastiano; S., Bertolini; Gm, Pes; L., Deiana; Tarugi, Patrizia Maria; L., Pisciotta; S., LI VOLTI; G., LI VOLTI; C., Maccarone |