Search Results - "Cefalu, A.B."

Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing by Spina, R, Cefalu', A.B, Noto, D, Ingrassia, V, Valenti, V, Giammanco, A, Fayer, F, Misiano, G, Scrimali, C, Altieri, G.I, Ganci, A, Barbagallo, C.M, Averna, M.R

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Clinical and genetic features of 2 patients with severe hypertriglyceridemia due to a mutation in GPIHBP1 gene by Altieri, G.I, Spina, R, Noto, D, Ingrassia, V, Valenti, V, Giammanco, A, Fayer, F, Misiano, G, Scrimali, C, Ganci, A, Barbagallo, C.M, Cefalu', A.B, Averna, M.R

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Down regulation of CD11b and CD18 expression in children with hypercholesterolemia: A preliminary report by Martino, F, Martino, E, Iacobini, M, Ferrara, E, Pacifico, L, Noto, D, Cefalu, A.B, Averna, M, Chiesa, C

“…Abstract Background and aim Cell adhesion molecules play an important role in the development of atherosclerosis mediating the attachment of monocytes to the…”
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Individual analysis of patients with HoFH participating in a phase 3 trial with lomitapide: The Italian cohort by Averna, M, Cefalù, A.B, Stefanutti, C, Di Giacomo, S, Sirtori, C.R, Vigna, G

“…Abstract Background and aims The efficacy and safety of lomitapide as adjunct treatment for adults with homozygous familial hypercholesterolaemia (HoFH) have…”
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Lomitapide affects HDL composition and function by Yahya, R, Favari, E, Calabresi, L, Verhoeven, A.J.M, Zimetti, F, Adorni, M.P, Gomaraschi, M, Averna, M, Cefalù, A.B, Bernini, F, Sijbrands, E.J.G, Mulder, M.T, Roeters van Lennep, J.E

“…Abstract Background Lomitapide reduces low-density lipoprotein-cholesterol (LDL-C) but also high-density lipoprotein-cholesterol (HDL-C) levels. The latter may…”
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Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population by Noto, D, Cefalù, A.B, Barbagallo, C.M, Ganci, A, Cavera, G, Fayer, F, Palesano, O, Spina, R, Valenti, V, Altieri, G.I, Caldarella, R, Giammanco, A, Termini, R, Burrascano, M, Crupi, G, Falletta, A, Scafidi, V, Sbordone, D, La Seta, F, Averna, M.R

“…Abstract Background and Aims Obesity is predictive of metabolic syndrome (metS), type 2 diabetes, cardiovascular (CV) disease and cancer. The aim of the study…”
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Metabolic disturbances and risk of cancer in the 25 years follow-up of the “Ventimiglia Heart Study” epidemiological project by Noto, D, Cefalù, A.B, Barbagallo, C.M, Giammanco, A, Fayer, F, Palesano, O, Altieri, G.I, Spina, R, Valenti, V, Pagano, M, Cavera, G, Averna, M.R

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Genetic epidemiology of ARH in Sicily by Spina, R, Valenti, V, Ingrassia, V, La Spada, M.P, Scrimali, C, Misiano, G, Noto, D, Palesano, O, Altieri, G.I, Licata, V, Fayer, F, Barbagallo, C.M, Cefalù, A.B, Averna, M

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A rare case of severe familial hypertriglyceridemia with variable phenotypic expression and response to lipid lowering treatments by Di monte, D., Giammanco, A., Spina, R., Caradio, F., Cefalu', A.B., Cipollone, F., Bucci, M.

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Response to treatment and occurrence of cardiovascular (CV) complications in patients with autosomal recessive hypercholesterolemia (ARH): A retrospective analysis by D'Erasmo, L, Minicocci, I, Masana, L, Roeters van Lennep, J, Harada-Shiba, M, Muntoni, S, Pintus, P, Bertolini, S, Sirtori, C, Calabresi, L, Pavanello, C, Averna, M, Cefalù, A.B, Noto, D, Pacifico, A, Pes, G, Fellin, R, Manzato, E, Zambon, S, Arca, M

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Lomitapide treatment highly affects lipoprotein profile and HDL functionality in patients with familial hypercholesterolemia by Zimetti, F, Favari, E, Adorni, M.P, Ronda, N, Bernini, F, Cefalù, A.B, Averna, M, Yahya, R, Bos, S, Verhoeven, A, Sijbrands, E, Roeters van Lennep, J, Mulder, M

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Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia identified in the lipigen centre of Palermo by Giammanco, A, Spina, R, Ingrassia, V, Valenti, V, Scrimali, C, Misiano, G, Altieri, G.I, Fayer, F, Barbagallo, C.M, Ganci, A, Noto, D, Cefalù, A.B, Averna, M.R

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Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene by Ingrassia, V, Zambon, A, Spina, R, Zambon, S, Bertocco, S, Giammanco, A, Cefalù, A.B, Altieri, G.I, Noto, D, Scrimali, C, Misiano, G, Fayer, F, Valenti, V, Ganci, A, Barbagallo, C.M, Averna, M.R

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Response to treatment and occurrence of cardiovascular (cv) complications in patients with autosomal recessive hypercholesterolemia (arh): A retrospective analysis by D'Erasmo, L, Minicocci, I, Masana, L, Muntoni, S, Pintus, P, Bertolini, S, Sirtori, C.R, Calabresi, L, Pavanello, C, Averna, M, Cefalù, A.B, Noto, D, Pacifico, A, Pes, G, Harada-Shiba, M, Roeters Van Lennep, J.R, Fellin, R, Manzato, E, Zambon, S, Zambon, A, Mata, P, Sánchez-Hernández, R.M, Prieto-Matos, P, Real, J.T, Vogt, A, Arca, M

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Effect of the −420C/G variant of the resistin gene promoter on metabolic syndrome, obesity, myocardial infarction and kidney dysfunction by Norata, G. D., Ongari, M., Garlaschelli, K., Tibolla, G., Grigore, L., Raselli, S., Vettoretti, S., Baragetti, I., Noto, D., Cefalù, A.B., Buccianti, G., Averna, M., Catapano, A.L.

“… Objective.  Resistin is an adipokine that has been suggested to be correlated with markers of inflammation and to be predictive of coronary atherosclerosis…”
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Obesity and the metabolic syndrome in a student cohort from Southern Italy by Noto, D, Niglio, T, Cefalù, A.B, Martino, E, Fayer, F, Mina, M, Valenti, V, Notarbartolo, A, Averna, M, Martino, F

“…Abstract Background and aim Cardiovascular (CV) risk factors present in childhood predict future CV events. Few data regarding the metabolic syndrome (MS)…”
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Cluster analysis of patterns generated from a web repository of HEPG2 transcriptomes. Genes of unknown functions coregulated in concert with cholesterol synthesis pathway by Altieri, G.I., Noto, D., Cefalu', A.B., Giammanco, A., Fayer, F., Ingrassia, V., Scrimali, C., Spina, R., Valenti, V., Misiano, G., Brucato, F., Ganci, A., Barbagallo, C.M., Averna, M.R.

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Detection of copy number variations (CNVS) in LDLR gene by next generation sequencing in patients with familial hypercholesterolemia by Scrimali, C., Spina, R., Ingrassia, V., Cefalu', A.B., Valenti, V., Altieri, G.I., Noto, D., Brucato, F., Misiano, G., Giammanco, A., Barbagallo, C.M., Ganci, A., Fayer, F., Averna, M.R.

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Hypertension and diabetes mellitus are associated with cardiovascular events in the elderly without cardiovascular disease. Results of a 15-year follow-up in a Mediterranean population by Noto, D, Cefalù, A.B, Barbagallo, C.M, Sapienza, M, Cavera, G, Nardi, I, Pagano, M, Vivona, N, Notarbartolo, A, Averna, M.R

“…Abstract Background and aims Epidemiological prospective data on cardiovascular (CV) events in elderly subjects from Mediterranean populations are lacking. We…”
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The production of 85kDa N-terminal fragment of apolipoprotein B in mutant HepG2 cells generated by targeted modification of apob gene occurs by ALLN-inhibitable protease cleavage during translocation by Srivastava, Neelam, Cefalu, A.B., Noto, Davide, Schonfeld, Gustav, Averna, Maurizio, Srivastava, Rai Ajit K.

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