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

IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING IN THE LDL-R GENE AND IN THE PCSK9 GENE

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

NOVEL NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS

IDENTIFICATION OF A HETEROZYGOUS COMPOUND INDIVIDUAL WITH AUTOSOMAL DOMINANT HYPERCHOLESTEROLEMIA HARBOURING A MUTATION IN THE LDL-R GENE AND IN THE PCSK9 GENE

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

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

IPERCOLESTEROLEMIA AUTOSOMICA DOMINANTE IN SICILIA

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

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

Genetic heterogeneity of familial hypercholesterolemia in Sicily

NONSENSE MUTATION IN THE CETP GENE IN ITALIAN HYPERALPHALIPOPROTEINEMIC SUBJECTS.

MISSENSE MUTATION ALA34VAL IN EXON 2 OF THE LIPOPROTEIN LIPASE GENE IN A YOUNG MAN WITH CHYLOMICRONEMIA.

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

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

No association between Glu298Asp endothelial nitric oxide synthase polymorphism and Italian sporadic Alzheimer's disease.

A great amount of evidence suggests that neuroinflammation may be a major pathogenetic mechanism in the pathophysiology of sporadic Alzheimer's Disease (sAD). Recently, polymorphisms in the endothelial nitric oxide synthase (NOS3) gene have been associated to late onset Alzheimer's Disease in a British population. However, other groups failed to replicate this finding in Asiatic and Caucasian populations. We conducted a case-control study including a clinically well-defined group of 149 sAD patients and 149 age and sex matched controls to test the association between NOS3 Glu298Asp polymorphism and sAD in an ethnically homogenous Italian population. All subjects were genotyped at NOS3 and a…