Salta al contenuto principale
Passa alla visualizzazione normale.

ROSSELLA SPINA

Pubblicazioni

Data Titolo Tipologia Scheda
2018 Genetic epidemiology of autosomal recessive hypercholesterolemia in Sicily: Identification by next-generation sequencing of a new kindred Articolo in rivista Vai
2017 Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia Articolo in rivista Vai
2017 Spectrum of mutations in Italian patients with familial hypercholesterolemia: New results from the LIPIGEN study Articolo in rivista Vai
2017 Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing Articolo in rivista Vai
2017 Genotypic and phenotypic characterization of patients with autosomal dominant hypercholesterolemia in sicily Proceedings (TIPOLOGIA NON ATTIVA) Vai
2017 Familial hypercholesterolemia: The Italian Atherosclerosis Society Network (LIPIGEN) Articolo in rivista Vai
2016 Baseline metabolic disturbances and the twenty-five years risk of incident cancer in a Mediterranean population Articolo in rivista Vai
2016 Myristic acid is associated to low plasma HDL cholesterol levels in a Mediterranean population and increases HDL catabolism by enhancing HDL particles trapping to cell surface proteoglycans in a liver hepatoma cell model Articolo in rivista Vai
2015 Homozygous familial hypobetalipoproteinemia: Two novel mutations in the splicing sites of apolipoprotein B gene and review of the literature Articolo in rivista Vai
2015 Novel CREB3L3 Nonsense Mutation in a Family With Dominant Hypertriglyceridemia Articolo in rivista Vai
2014 RUOLO DEL POLIMORFISMO ILE148MET DEL GENE PNPLA3 NELLA STEATOSI ASSOCIATA ALLA IPOBETALIPOPROTEINEMIA FAMILIARE Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 NEXT GENERATION SEQUENCIN: A NEW METHODOLOGICAL APPROACH FOR THE MOLECULAR DIAGNOSIS OF GENETIC DYSLIPIDEMIAS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 LA LIPIDOMICA DELLA NON ALCOHOLIC FATTY LIVER DISEASE: ANALISI DELLA CINETICA DELL’ACIDO PALMITICO MEDIANTE L’USO DI UN ISOTOPO STABILE IN UN MODELLO IN VITRO Proceedings (TIPOLOGIA NON ATTIVA) Vai
2014 DETECTION OF NEW GENES RESPONSIBLE OF FAMILIAL RECESSIVE HYPERCHOLESTEROLEMIA: PRELIMINARY DATA FROM AN EXOME SEQUENCING APPROACH Proceedings (TIPOLOGIA NON ATTIVA) Vai
2013 A Novel APOB Mutation Identified by Exome Sequencing Cosegregates With Steatosis, Liver Cancer, and Hypocholesterolemia. Articolo in rivista Vai
2013 A NOVEL APOB MUTATION IDENTIFIED BY EXOME SEQUENCING COSEGREGATES WITH STEATOSIS, LIVER CANCER AND HYPOCHOLESTEROLEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Prevalence of ANGPTL3 and APOB gene mutations in subjects with combined hypolipidemia Articolo in rivista Vai
2012 Identification of a novel ANGPTL3 mutation splicing associeted to severe hypobetalipoproteinemia Proceedings (TIPOLOGIA NON ATTIVA) Vai
2012 Clinical, molecular and functional characterization of two novel mutations associated to compound heterozygous FHBL Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 LIPIDOMICS OF FATTY LIVER IN NAFLD AND HCV INFECTION: LIVER SPHYNGOLIPIDS AND FATTY ACIDS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 PREVALENCE OF ANGPTL3 AND APOB GENE MUTATIONS IN SUBJECTS WITH COMBINED HYPOLIPIDEMIA Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 VASCULOPROTECTIVE FUNCTION OF HDL FROM CETP-DEFICIENT SUBJECTS Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 Metabolomic analysis of plasma from Alzheimer disease patients Proceedings (TIPOLOGIA NON ATTIVA) Vai
2011 Le ipertrigliceridemie severe primitive: studio biochimico e genetico-molecolare Tesi di dottorato pre 2013 Vai
2009 Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia Articolo in rivista Vai
2008 A novel mutation in the Lipase Maturaction Factor 1 (LMF-1)gene responsible for severe hypertriglyceridemia Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS? Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 INTERACTION OF THE INTRACELLULAR DOMAIN OF THE LOW DENSITY LIPOPROTEIN (LDL) RECPTOR WITH METALLOTHIONEIN2 (MT2). Proceedings (TIPOLOGIA NON ATTIVA) Vai
2007 CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE Proceedings (TIPOLOGIA NON ATTIVA) Vai