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 man with low cholesterol and weakness of the lower limbs. 1-gen-2014 Lucchi, T.; Calandra, S.; Rabacchi, C.; Conti, G.; Ardolino, G.; Assolari, L.; Arosio, B.; Vergani, C.
A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region. 1-gen-2009 Marino, Marco; Rabacchi, Claudio; Simone, Maria Luisa; Medici, Veronica; Cortesi, L; 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 in the sterol 27-hydroxylase gene of a woman with autosomal recessive cerebrotendinous xanthomatosis. 1-gen-2010 Schneider, H; Lingesleben, A; Vogel, Hp; Garuti, R; CALANDRA BUONAURA, Sebastiano
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 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 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.
An apparent inconsistency in parent to offspring transmission ofpoint mutations of LDLR gene in familial hypercholesterolemia 1-gen-2009 Rabacchi, Claudio; Wunsch, A; Ghisellini, Margherita; Marino, Marco; Pisciotta, L; Bertolini, S; Calandra Buonaura, Sebastiano