An Update on Laboratory Diagnosis of Liver Inherited Diseases

بواسطة Zarrilli, Federica, Elce, Ausilia, Scorza, Manuela, Giordano, Sonia, Amato, Felice, Castaldo, Giuseppe
منشور في 2013

Genetic Diseases That Predispose to Early Liver Cirrhosis

بواسطة Scorza, Manuela, Elce, Ausilia, Zarrilli, Federica, Liguori, Renato, Amato, Felice, Castaldo, Giuseppe
منشور في 2014

Gene Mutation in MicroRNA Target Sites of CFTR Gene: A Novel Pathogenetic Mechanism in Cystic Fibrosis?

بواسطة Amato, Felice, Seia, Manuela, Giordano, Sonia, Elce, Ausilia, Zarrilli, Federica, Castaldo, Giuseppe, Tomaiuolo, Rossella
منشور في 2013

Haemophilia A: the consequences of de novo mutations. Two case reports

بواسطة Zarrilli, Federica, Coppola, Antonio, Schiavulli, Michele, Cimino, Ernesto, Elce, Ausilia, Rescigno, Giuseppe, Castaldo, Giuseppe, Amato, Felice
الحاوية / القاعدة Blood Transfus (2018)

Ex vivo model predicted in vivo efficacy of CFTR modulator therapy in a child with rare genotype

بواسطة Terlizzi, Vito, Amato, Felice, Castellani, Chiara, Ferrari, Beatrice, Galietta, Luis J. V., Castaldo, Giuseppe, Taccetti, Giovanni
الحاوية / القاعدة Mol Genet Genomic Med (2021)

ACE2: The Major Cell Entry Receptor for SARS-CoV-2

بواسطة Scialo, Filippo, Daniele, Aurora, Amato, Felice, Pastore, Lucio, Matera, Maria Gabriella, Cazzola, Mario, Castaldo, Giuseppe, Bianco, Andrea
الحاوية / القاعدة Lung (2020)

A Novel DHPLC-Based Procedure for the Analysis of COL1A1 and COL1A2 Mutations in Osteogenesis Imperfecta

بواسطة Fuccio, Antonella, Iorio, Mariangela, Amato, Felice, Elce, Ausilia, Ingino, Rosaria, Filocamo, Mirella, Castaldo, Giuseppe, Salvatore, Francesco, Tomaiuolo, Rossella
منشور في 2011

Congenital Diarrheal Disorders: An Updated Diagnostic Approach

بواسطة Terrin, Gianluca, Tomaiuolo, Rossella, Passariello, Annalisa, Elce, Ausilia, Amato, Felice, Di Costanzo, Margherita, Castaldo, Giuseppe, Canani, Roberto Berni
منشور في 2012

Two cases of microvillous inclusion disease caused by novel mutations in MYO5B gene

بواسطة Comegna, Marika, Amato, Felice, Liguori, Renato, Berni Canani, Roberto, Spagnuolo, Maria Immacolata, Morroni, Manrico, Guarino, Alfredo, Castaldo, Giuseppe
الحاوية / القاعدة Clin Case Rep (2018)

Lung Microbiome in Cystic Fibrosis

بواسطة Scialo, Filippo, Amato, Felice, Cernera, Gustavo, Gelzo, Monica, Zarrilli, Federica, Comegna, Marika, Pastore, Lucio, Bianco, Andrea, Castaldo, Giuseppe
الحاوية / القاعدة Life (Basel) (2021)

Elexacaftor–Tezacaftor–Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del/Unknown Genotype

بواسطة Comegna, Marika, Terlizzi, Vito, Salvatore, Donatello, Colangelo, Carmela, Di Lullo, Antonella Miriam, Zollo, Immacolata, Taccetti, Giovanni, Castaldo, Giuseppe, Amato, Felice
الحاوية / القاعدة Antibiotics (Basel) (2021)

Impaired cholesterol metabolism in the mouse model of cystic fibrosis. A preliminary study

بواسطة Amato, Felice, Castaldo, Alice, Castaldo, Giuseppe, Cernera, Gustavo, Corso, Gaetano, Ferrari, Eleonora, Gelzo, Monica, Monzani, Romina, Villella, Valeria Rachela, Raia, Valeria
الحاوية / القاعدة PLoS One (2021)

Molecular Analysis of Prothrombotic Gene Variants in Patients with Acute Ischemic Stroke and with Transient Ischemic Attack

بواسطة Cernera, Gustavo, Comegna, Marika, Gelzo, Monica, Savoia, Marcella, Bruzzese, Dario, Mormile, Mauro, Zarrilli, Federica, Amato, Felice, Micco, Pierpaolo Di, Castaldo, Giuseppe
الحاوية / القاعدة Medicina (Kaunas) (2021)

Molecular Analysis of Prothrombotic Gene Variants in Venous Thrombosis: A Potential Role for Sex and Thrombotic Localization

بواسطة Cernera, Gustavo, Di Minno, Alessandro, Amato, Felice, Elce, Ausilia, Liguori, Renato, Bruzzese, Dario, Di Lullo, Antonella Miriam, Castaldo, Giuseppe, Zarrilli, Federica, Comegna, Marika
الحاوية / القاعدة J Clin Med (2020)

SARS-CoV-2 Subgenomic N (sgN) Transcripts in Oro-Nasopharyngeal Swabs Correlate with the Highest Viral Load, as Evaluated by Five Different Molecular Methods

بواسطة Zollo, Massimo, Ferrucci, Veronica, Izzo, Barbara, Quarantelli, Fabrizio, Domenico, Carmela Di, Comegna, Marika, Paolillo, Carmela, Amato, Felice, Siciliano, Roberto, Castaldo, Giuseppe, Capoluongo, Ettore
الحاوية / القاعدة Diagnostics (Basel) (2021)

High-throughput screening identifies FAU protein as a regulator of mutant cystic fibrosis transmembrane conductance regulator channel

بواسطة Tomati, Valeria, Pesce, Emanuela, Caci, Emanuela, Sondo, Elvira, Scudieri, Paolo, Marini, Monica, Amato, Felice, Castaldo, Giuseppe, Ravazzolo, Roberto, Galietta, Luis J. V., Pedemonte, Nicoletta
الحاوية / القاعدة J Biol Chem (2018)

Peptide Nucleic Acids as miRNA Target Protectors for the Treatment of Cystic Fibrosis

بواسطة Zarrilli, Federica, Amato, Felice, Morgillo, Carmine Marco, Pinto, Brunella, Santarpia, Giuliano, Borbone, Nicola, D’Errico, Stefano, Catalanotti, Bruno, Piccialli, Gennaro, Castaldo, Giuseppe, Oliviero, Giorgia
الحاوية / القاعدة Molecules (2017)

TAS2R38 is a novel modifier gene in patients with cystic fibrosis

بواسطة Castaldo, Alice, Cernera, Gustavo, Iacotucci, Paola, Cimbalo, Chiara, Gelzo, Monica, Comegna, Marika, Di Lullo, Antonella Miriam, Tosco, Antonella, Carnovale, Vincenzo, Raia, Valeria, Amato, Felice
الحاوية / القاعدة Sci Rep (2020)

Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea

بواسطة Canani, Roberto Berni, Terrin, Gianluca, Elce, Ausilia, Pezzella, Vincenza, Heinz-Erian, Peter, Pedrolli, Annalisa, Centenari, Chiara, Amato, Felice, Tomaiuolo, Rossella, Calignano, Antonio, Troncone, Riccardo, Castaldo, Giuseppe
منشور في 2013

Exploitation of a Very Small Peptide Nucleic Acid as a New Inhibitor of miR-509-3p Involved in the Regulation of Cystic Fibrosis Disease-Gene Expression

بواسطة Amato, Felice, Tomaiuolo, Rossella, Nici, Fabrizia, Borbone, Nicola, Elce, Ausilia, Catalanotti, Bruno, D'Errico, Stefano, Morgillo, Carmine Marco, De Rosa, Giuseppe, Mayol, Laura, Piccialli, Gennaro, Oliviero, Giorgia, Castaldo, Giuseppe
منشور في 2014