BUGLINO, Carmela Maria
BUGLINO, Carmela Maria
A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA
2005-01-01 VALENTI, V; CEFALU, AB; NOTO, D; BARRACO, G; FAYER, F; VIVONA, N; MINA, M; ONORATO, K; POLLACCIA, D; BUGLINO, C; BARBAGALLO, CM; NOTARBARTOLO, A; AVERNA, MR
A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects
2004-01-01 Buglino, C.; Martini, S.; Cefalu', A.; Noto, D.; Cortella, I.; Mina', M.; Valenti, V.; Barbagallo, C.; Fayer, F.; Notarbartolo, A.; Averna, M.
A NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS
2006-01-01 CEFALU'; AB; MARTINI S; NOTO D; CORTELLA I; VALENTI V; FAYER F; GUELI MC; BARBAGALLO CM; NOTARBARTOLO A; AVERNA M; Mina', M.; Buglino, C.M.
ASSOCIATION OF PARAOXONASE-1 Q192R PLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD PATIENTS AND HEALTHY CONTROLS
2005-01-01 MIN M; ONORATO K; CALDARELLA R; NOVO G; VALENTI V; BARRACO G; DAV V; CEFAL AB; BUGLINO C; NOTO D; NOTARBARTOLO A; AVERNA MR
ASSOCIATION OF THE PARAOXONASE-1 Q192R POLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD AND HEALTHY CONTROLS.
2004-01-01 MINA M; ONORATO K; FAYER F; CALDARELLA R; NOVO G; VALENTI V; BARRACO G; DAVI V; CEFALU' AB; BUGLINO C; NOTO D; NOTARBARTOLO, A; AVERNA, M
Genetic heterogeneity of familial hypercholesterolemia in Sicily
2006-01-01 CEFALU' AB; BUGLINO C; VALENTI V; BARRACO G; ONORATO F; SAORIN L; NOTO D; FAYER F; BARBAGALLO CM; GIAMMANCO S; LA GUARDIA M; GIAMMANCO M; NOTARBARTOLO A; AVERNA MR
GLI ACIDI GRASSI SATURI ED INSATURI MODULANO L’UPTAKE DELLE LIPOPROTEINE HDL IN UN MODELLO DI CELLULE EPATICHE IN COLTURA.
2004-01-01 FAYER F; NOTO D; MINA' M; ONORATO K; CALDARELLA R; VALENTI V; BARRACO G; BUGLINO C; CEFALU' AB; NOTARBARTOLO A; AVERNA MR
IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING A MUTATION IN THE LDL-R GENE AND IN THE PCSK9 GENE
2004-01-01 AB CEFAL; BARRACO G; V VALENTI; CM BUGLINO; F ONORATO; DAVIDE NOTO; ROSALIA CALDARELLA; CM BARBAGALLO; A NOTARBARTOLO; M AVERNA; Cefalu', A.B.
IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING IN THE LDL-R GENE AND IN THE PCSK9 GENE
2005-01-01 CEFAL AB; BARRACO G; VALENTI V; BUGLINO CM; ONORATO F; NOTO D; CALDARELLA R; NOVO G; FAYER F; BARBAGALLO CM; NOTARBARTOLO A; AVERNA M
IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA
2004-01-01 CEFALU' AB; BARRACO G; VALENTI V; BUGLINO C; MOLINI V; ONORATO F; MINA' M; NOTO D; FAYER F; BARBAGALLO CM; AMATO F; NOTARBARTOLO A; AVERNA MR
MISSENSE MUTATION ALA34VAL IN EXON 2 OF THE LIPOPROTEIN LIPASE GENE IN A YOUNG MAN WITH CHYLOMICRONEMIA.
2004-01-01 S SEGRETO; CM BUGLINO; L SAORIN; V VALENTI; K ONORATO; D NOTO; CM BARBAGALLO; M MAGGIORE; A SCIMECA; AB CEFALU'; NOTARBARTOLO A; AVERNA MR
MUTAZIONI DEL GENE DELL’APOB RESPONSABILI DI IPOBETALIPOPROTEINEMIA FAMILIARE IN SICILIA
2004-01-01 CEFALU' AB; VALENTI V; MOLINI V; SEGRETO S; SAORIN L; BUGLINO C; ONORATO K; TOIA G; MINA' M; NOTO D; BARBAGALLO CM; NOTARBARTOLO A; AVERNA MR
NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.
2004-01-01 CM BUGLINO; S MARTINI; AB CEFALU'; D NOTO; I CORTELLA; M MINA'; V VALENTI; CM BARBAGALLO; F FAYER; NOTARBARTOLO A; AVERNA MR
NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS
2005-01-01 BUGLINO CM; MARTINI S; CEFAL AB; NOVO G; NOTO D; CORTELLA I; MIN M; VALENTI V; BARBAGALLO CM; FAYER F; NOTARBARTOLO A; AVERNA MR
UNA NUOVA MUTAZIONE DELL’INTRONE 16 (G>A a 2390 -1) DEL RECETTORE DELLE LDL RESPONSABILE DI IPERCOLESTEROLEMIA FAMILIARE. EFFETTI SULLA ESPRESSIONE DELL’mRNA DEL RECETTORE DELLE LDL
2004-01-01 BUGLINO C; BARRACO G; VALENTI V; ONORATO F; TOIA G; MINa' M; CEFALu' AB; NOTO D; FAYER F; BARBAGALLO CM; AMATO S; NOTARBARTOLO A; AVERNA M; Onorato, K.; Emanuele, V.