CALANDRA BUONAURA, Sebastiano

CALANDRA BUONAURA, Sebastiano  

Dipartimento di Scienze Biomediche, Metaboliche e Neuroscienze  

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A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia 1-gen-1998 Cassanelli, Stefano; S., Bertolini; M., Rolleri; F., De Stefano; L., Casarino; N., Elicio; A., Naselli; CALANDRA BUONAURA, Sebastiano
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene 1-gen-2015 Buonuomo, P. S.; Bartuli, A.; Rabacchi, C.; Bertolini, S.; Calandra, S.
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, S; Lelli, N; Coviello, Da; Ghisellini, Margherita; Masturzo, P; Tiozzo, Roberta; Elicio, N; Gaddi, A; CALANDRA BUONAURA, Sebastiano
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 mutation of the apolipoprotein A-I gene in a family with familial combined hyperlipidemia 1-gen-2008 Pisciotta, L; Fasano, Tommaso; Calabresi, L; Bellocchio, A; Fresa, R; Borrini, C; CALANDRA BUONAURA, Sebastiano; Bertolini, S.
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 S., Bertolini; L., Pisciotta; M., Seri; R., Cusano; A., Cantafora; L., Calabresi; G., Franceschini; R., Ravazzolo; CALANDRA BUONAURA, Sebastiano
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
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
Adaptor protein ARH is recruited to the plasma membrane by low density lipoprotein (LDL) binding and modulates endocytosis of the LDL/LDL receptor complex in hepatocytes 1-gen-2005 Mi, Sirinian; F., Belleudi; F., Campagna; M., Ceridono; T., Garofalo; F., Quagliarini; R., Verna; CALANDRA BUONAURA, Sebastiano; S., Bertolini; M., Sorice; Mr, Torrisi; M., Arca
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.
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia 1-gen-1999 S., Bertolini; Cassanelli, Stefano; R., Garuti; Ghisellini, Margherita; Ml, Simone; M., Rolleri; CALANDRA BUONAURA, Sebastiano; P., Masturzo
Analysis of two duplications of the LDL receptor gene affecting intracellular transport, catabolism, and surface binding of the LDL receptor 1-gen-1998 Dd, Patel; N., Lelli; R., Garuti; Sl, Volti; S., Bertolini; Bl, Knight; CALANDRA BUONAURA, Sebastiano
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