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Lista de obras de Maria Donata Di Taranto

A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia

artículo científico publicado en 2020

Advances in Computational Methods for Genetic Diseases

artículo científico publicado en 2015

Altered expression of inflammation-related genes in human carotid atherosclerotic plaques

article

An improved method on stimulated T-lymphocytes to functionally characterize novel and known LDLR mutations.

artículo científico publicado en 2011

Association of USF1 and APOA5 polymorphisms with familial combined hyperlipidemia in an Italian population

article

C-reactive protein levels are associated with paraoxonase polymorphism L55M in patients undergoing cardiac SPECT imaging

artículo científico publicado en 2011

Causative mutations and premature cardiovascular disease in patients with heterozygous familial hypercholesterolaemia.

artículo científico publicado en 2017

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports

artículo científico publicado en 2016

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia

article

Decreased paraoxonase-2 expression in human carotids during the progression of atherosclerosis

artículo científico publicado en 2008

Functional characterization of mutant genes associated with autosomal dominant familial hypercholesterolemia: integration and evolution of genetic diagnosis.

artículo científico

Galectin-3 in Cardiovascular Diseases

artículo científico publicado en 2020

Homocysteine levels and sustained virological response to pegylated-interferon alpha2b plus ribavirin therapy for chronic hepatitis C: a prospective study

artículo científico publicado en 2008

Identification and functional characterization of LDLR mutations in familial hypercholesterolemia patients from Southern Italy

artículo científico publicado en 2009

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia

artículo científico publicado en 2017

Polymorphisms and the expression of genes encoding enzymes involved in cardiovascular diseases.

artículo científico publicado en 2007

Statistical and Computational Methods for Genetic Diseases: An Overview ⬇️

artículo científico

The novel variant p.Ser465Leu in the PCSK9 gene does not account for the decreased LDLR activity in members of a FH family

article

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