Rossana Molinario

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OBJECTIVE Massive parallel sequencing (MPS) is the new frontier for molecular diagnostics. Twenty-four papers regarding BRCA analysis were considered for reviewing all pipelines evaluated in this field. METHODS Proposed here is an integrated MPS workflow able to successfully identify BRCA1/2 mutational status on 212 Italian ovarian cancer patients. The(More)
Meta-analyses demonstrate copper involvement in Alzheimer's disease (AD), and the systemic ceruloplasmin status in relation to copper is an emerging issue. To deepen this matter, we evaluated levels of ceruloplasmin concentration, ceruloplasmin activity, ceruloplasmin specific activity (eCp/iCp), copper, non-ceruloplasmin copper iron, transferrin, the(More)
BACKGROUND Glycated hemoglobin (HbA1c) is widely used as a clinical marker of long-term blood glucose concentration in patients with diabetes. The clinical laboratory plays a vital role in the diagnosis and management of diabetes. Many methods for the measurement of HbA1c have been developed based on different analytical principles, often causing discordant(More)
BACKGROUND Monitoring urinary albumin is a useful method in clinical practice for the management of diabetic nephropathy, chronic kidney disease, and hypertension. Currently there are neither standardized methods nor reference material for the determination of urinary albumin; for this reason it is useful to compare different assays used in clinical(More)
Cystic fibrosis (CF; OMIM number 219700) is an autosomal recessive disease caused by mutations in the CFTR (cystic fibrosis transmembrane conductance regulator) gene, which results in abnormal viscous mucoid secretions in multiple organs and whose main clinical features are pancreatic insufficiency, chronic endobronchial infection, and male infertility. We(More)
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