0000000000478918

AUTHOR

Mariangela Mina'

COMPOUND HETEROZYGOUS FH AND FDB: IDENTIFICATION OF A SICILIAN FAMILY HARBOURING THE FDB3531 MUTATION AND THE Y398X MUTATION OF THE LDL RECEPTOR GENE.

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A NOVEL COMPOUND HETEROZYGOUS MUTATION OF THE LIPOPROTEIN LIPASE GENE IN A NEWBORN WITH CHYLOMICRONEMIA

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A NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS

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FAMILIAL HYPOBETALIPOPROTEINEMIA DUE TO APOLIPOPROTEIN B GENE MUTATIONS CAUSES INTESTINAL FAT ACCUMULATION AND LIPID MALABSORPTION.

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CLINICAL AND MOLECULAR CHARACTERIZATION OF HYPERCHOLESTEROLEMIC SICILIAN FAMILIES AND DESCRIPTION OF 3 NOVEL MUTATIONS IN THE LDLR GENE

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SEVERE MALABSORPTION AND DECREASED TRIGLYCERIDE RICH LIPOPROTEINS PRODUCTION IN A PROBAND CARRYING A MUTATION ENCODING FOR A TRUNCATED APOLIPOPROTEIN B100 VARIANT (APO B 34.8).

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I LIVELLI DI CISTATINA C SONO RIDOTTI NELL’INFARTO MIOCARDIO ACUTO. EFFETTO DEL POLIMORFISMO G73A SUI LIVELLI PLASMATICI.

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HYPOBETALIPOPROTEINEMIA AND FATTY LIVER: WHO IS THE CULPRIT

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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

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CEREBROTENDINOUS XANTHOMATOSIS: A SICILIAN FAMILY HARBOURING THE R362C MUTATION IN THE STEROL 27-HYDROXYLASE GENE

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ΒETA ARRESTIN-2: A NEW “ACTOR” IN THE LDL-R ENDOCYTOSIS?

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THE METABOLIC SYNDROME IS A PREDICTOR OF CARDIOVASCULAR EVENTS IN A SICILIAN POPULATION. RESULT OF A 15 YEARS FOLLOW UP

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PREVALENCE OF PCSK9 VARIANTS IN A COHORT OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

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IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA

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ASSOCIATION OF THE PARAOXONASE-1 Q192R POLYMORPHISM WITH CORONARY ARTERY DISEASE IN AMI PATIENTS, NON AMI CAD AND HEALTHY CONTROLS.

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A novel nonsense mutation in the cept gene in italian Hyperalphalipoproteinemic subjects

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NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.

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GLI ACIDI GRASSI SATURI ED INSATURI MODULANO L’UPTAKE DELLE LIPOPROTEINE HDL IN UN MODELLO DI CELLULE EPATICHE IN COLTURA.

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MUTAZIONI DEL GENE DELL’APOB RESPONSABILI DI IPOBETALIPOPROTEINEMIA FAMILIARE IN SICILIA

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Le LDL generate in fase post-prandiale dopo carico grasso presentano maggiore densita’, minore size e maggiore affinita’ per il recettore

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SHORT APOB TRUNCATIONS SHOW IMPAIRE CHYLOMICRON EXPORT AND ENTEROCYTE TRIGLYCERIDE ACCUMULATION. IN VIVO AND IN VITRO EVIDENCE ON A APOB 28.25 STABLE-TRANSFECTED ENTEROCYTE CELL LINE

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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.

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INTERLEUKIN 6 PLASMA LEVELS PREDICT WITH HIGH SENSITIVITY AND SPECIFICITY CORONARY STENOSIS DETECTED BY CORONARY ANGIOGRAPHY

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PREVALENCE OF APOB VARIANTS IN A SAMPLE OF SUBJECTS WITH HYPOCHOLESTEROLEMIA

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