VALENTI, Vincenza
VALENTI, Vincenza
Biomedico di Medicina Interna e Specialistica (attivo dal 01/01/2013 al 31/12/2018)
A metallothionein family member interacts with the intracellular domain of the low density lipoprotein (ldl) receptor.
2007-01-01 COSTA S; NICOSIA A; RAGUSA MA; POLLACCIA D; VALENTI V; CEFALÙ AB; AVERNA MR; AND GIANGUZZA F
A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA
2013-01-01 Spina, R; Cefalù AB; Pirruccello, JP; Altieri, GI; Noto, D; Gabriel, S; Valenti, V; Gupta, N; Fayer, F; Palesano, O; Tarugi, P; Kathiresan, S; Averna, M
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, P; Kathiresan, S; Averna, M
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 LOSS OF FUCTION MUTATION OF PCSK9 GENE IN CAUCASIANS WITH LOW PLASMA LDL-CHOLESTEROL
2007-01-01 FASANO T; CEFALU' AB; DI LEO E; NOTO D; POLLACCIA D; BOCCHI L; VALENTI V; GUARDAMAGNA O; AVERNA M; TARUGI P
A NOVEL LOSS OF FUNCTION MUTATION OF PCSK9 GENE
2006-01-01 FASANO T; BOCCHI L; DI LEO E; CEFALU' AB; NOTO D; VALENTI V; GUARDAMAGNA O; CALANDRA S; AVERNA MR; TARUGI P
A novel loss of function mutation of PCSK9 gene in white subjects with low-plasma low-density lipoprotein cholesterol.
2007-01-01 FASANO, T; CEFALU, AB; DI LEO, E; NOTO, D; POLLACCIA, D; BOCCHI, L; VALENTI, V; BONARDI, R; GUARDAMAGNA, O; AVERNA, M; TARUGI, P
A novel mutation of the extracellular matrix protein 1 gene (ECM1) in a patient with lipoid proteinosis (Urbach-Wiethe disease) from Sicily
2005-01-01 LUPO, I; CEFALU', AB; BONGIORNO, MR; DANIELE, O; VALENTI, V; NOTO, D; CAMARDA, R; SAVETTIERI, G; ARICO', M; AVERNA M
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 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
ASSOCIAZIONE DEL POLIMORFISMO Q192R DEL GENE DELLA PARAOXONASI I (PON1) CON LA MALATTIA CORONARICA IN UN CAMPIONE DI PZ CON INFARTO MIOCARDICO, MALATTIA CORONARICA NON INFARTUALE E SOGGETTI NORMALI.
2004-01-01 MINA M; NOTO D; FAYER F; ONORATO K; VALENTI V; CALDARELLA R; SEGRETO S; SCIMECA A; ONORATO F; CEFALU' AB; BARBAGALLO CM; NOTARBARTOLO A; AVERNA MR
Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population
2016-01-01 Noto, D.; Cefalu', A.; Barbagallo, C.; Ganci, A.; Cavera, G.; Fayer, F.; Palesano, O.; Spina, R.; Valenti, V.; Altieri, G.; Caldarella, R.; Giammanco, A.; Termini, R.; Burrascano, M.; Crupi, G.; Falletta, A.; Scafidi, V.; Sbordone, D.; La Seta, F.; Averna, M.
CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE
2006-01-01 VIVONA, N; BARRACO, G; VALENTI, V; CEFALU', AB; NOTO, D; POLLACCIA, D; FAYER, F; MINA', M; BARBAGALLO, CM; NOTARBARTOLO, A; BAGGIO, G; AVERNA, M
CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE
2007-01-01 VIVONA, N; DITTA, M; MINA, M; VALENTI, V; POLLACCIA, D; SPINA, R; BARBAGALLO, CM; NOTO, D; CEFALU, AB; NOTARBARTOLO, A; AVERNA, MR
Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL
2012-01-01 Valenti V; Garlaschelli K; Cefalù AB; Grigore L; Spina R; Uboldi P; Noto D; Norata GD; Ghiglioni D; Fiocchi L; Terracciano L; Zoja A; Catapano AL; Averna M
COMPOUND HETEROZYGOUS FH AND FDB: IDENTIFICATION OF A SICILIAN FAMILY HARBOURING THE FDB3531 MUTATION AND THE Y398X MUTATION OF THE LDL RECEPTOR GENE.
2006-01-01 VIVONA, N; CEFALU', AB; POLLACCIA, D; VALENTI, V; BARRACO, G; NOTO, D; ONORATO, K; FAYER, F; MINA', M; BARBAGALLO, CM; NOTARBARTOLO, A; TRAVALI, S; AVERNA, MR
DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH
2014-01-01 Spina, R.; Cefalù, A.; Valenti, V.; Noto, D.; Ingrassia, V.; Scrimali, C.; Spada, M.; Misiano, G.; Altieri, G.; Fayer, F.; Barbagallo, C.; Palesano, O.; Licata, V.; Averna, M.
Familial hypobetalipoproteinemia due to apolipoprotein B R463W mutation causes intestinal fat accumulation and low postprandial lipemia.
2009-01-01 Noto, D; Cefalù, AB; Cannizzaro, A; Minà, M; Fayer, F; Valenti, V; Barbagallo, CM; Tuttolomondo, A; Pinto, A; Sciumè, C; Licata, G; Averna, M
FUNCTIONAL CHARACTERIZATION OF NOVEL AMINO ACID VARIANTS IN APOB IN FAMILIAL HYPOBETALIPOPROTEINEMIA
2013-01-01 Magnolo, AL; Pinotti, E; Di Leo, E; Valenti, V; Cefalù, AB; Yao, Z; Averna, M; Tarugi, P