Publications by authors named "Angela Maria Polizzi"

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First report of whole CFTR gene duplication in a healthy newborn carrying R74W and V855I variants on the same allele.
Anna Diana, Angela Maria Polizzi, Annunziata De Luisi, Maria Giuseppina Pantaleo, Giuseppina Leonetti

J Cyst Fibros· July 2024

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Treatment of Cystic Fibrosis Patients Homozygous for with Lumacaftor-Ivacaftor (Orkambi) Restores Defective CFTR Channel Function in Circulating Mononuclear Cells.
Maria Favia, Crescenzio Gallo, Lorenzo Guerra, Domenica De Venuto, Anna Diana, Angela Maria Polizzi

Int J Mol Sci· March 2020

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G-CSF and GM-CSF Modify Neutrophil Functions at Concentrations found in Cystic Fibrosis.
Stefano Castellani, Susanna D'Oria, Anna Diana, Angela Maria Polizzi, Sante Di Gioia

Sci Rep· September 2019

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May the new suggested lower borderline limit of sweat chloride impact the diagnostic process for cystic fibrosis?
Natalia Cirilli, Cesare Braggion, Gianfranco Mergni, Angela Maria Polizzi, Rita Padoan

J Pediatr· March 2018

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The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies.
Anna Diana, Angela Maria Polizzi, Teresa Santostasi, Luigi Ratclif, Maria Giuseppina Pantaleo

J Hum Genet· June 2016

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Evaluation of genome-wide expression profiles of blood and sputum neutrophils in cystic fibrosis patients before and after antibiotic therapy.
Massimo Conese, Stefano Castellani, Silvia Lepore, Orazio Palumbo, Antonio Manca, Angela Maria Polizzi

PLoS One· November 2015

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