NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders

by Maria Valeria Esposito, Marika Comegna, Gustavo Cernera, Monica Gelzo, Lorella Paparo, Roberto Berni Canani, Giuseppe Castaldo
Published 2021-02-01

Extensive <i>CFTR</i> Gene Analysis Revealed a Higher Occurrence of Cystic Fibrosis Transmembrane Regulator-Related Disorders (CFTR-RD) among CF Carriers

by Maria Valeria Esposito, Achille Aveta, Marika Comegna, Gustavo Cernera, Paola Iacotucci, Vincenzo Carnovale, Giovanni Taccetti, Vito Terlizzi, Giuseppe Castaldo
Published 2020-11-01

Multilinear Regression Analysis of Sweat Secretion Volumes in Cystic Fibrosis Patients

by Paola Lecca, Marina Bertini, Roberta Vicentini, Emily Pintani, Ciro D’Orazio, Valeria Esposito, Karina Kleinfelder, Claudio Sorio, Paola Melotti
Published 2018-11-01

Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives

by Vincenza Precone, Valentina Del Monaco, Maria Valeria Esposito, Fatima Domenica Elisa De Palma, Anna Ruocco, Francesco Salvatore, Valeria D’Argenio
Published 2015-01-01

Genotype-Phenotype Correlation: A Triple DNA Mutational Event in a Boy Entering Sport Conveys an Additional Pathogenicity Risk

by Giuseppe Limongelli, Marcella Nunziato, Cristina Mazzaccara, Mariano Intrieri, Valeria DArgenio, Maria Valeria Esposito, Emanuele Monda, Federica Di Maggio, Giulia Frisso, Francesco Salvatore
Published 2020-05-01

Improving the estimation of celiac disease sibling risk by non-HLA genes.

by Valentina Izzo, Michele Pinelli, Nadia Tinto, Maria Valeria Esposito, Arturo Cola, Maria Pia Sperandeo, Francesca Tucci, Sergio Cocozza, Luigi Greco, Lucia Sacchetti
Published 2011-01-01

A Functional Analysis of the Unclassified Pro2767Ser BRCA2 Variant Reveals Its Potential Pathogenicity that Acts by Hampering DNA Binding and Homology-Mediated DNA Repair

by Maria Valeria Esposito, Giuseppina Minopoli, Luciana Esposito, Valeria D’Argenio, Federica Di Maggio, Emanuele Sasso, Massimiliano D’Aiuto, Nicola Zambrano, Francesco Salvatore
Published 2019-09-01

A Novel Pathogenic BRCA1 Splicing Variant Produces Partial Intron Retention in the Mature Messenger RNA

by Maria Valeria Esposito, Marcella Nunziato, Flavio Starnone, Antonella Telese, Alessandra Calabrese, Giuseppe D’Aiuto, Pietro Pucci, Massimiliano D’Aiuto, Francisco Baralle, Valeria D’Argenio, Francesco Salvatore
Published 2016-12-01

Setup of Quantitative PCR for Oral <i>Neisseria</i> spp. Evaluation in Celiac Disease Diagnosis

by Maria Valeria Esposito, Carmela Nardelli, Ilaria Granata, Chiara Pagliuca, Valeria D’Argenio, Ilaria Russo, Mario Rosario Guarracino, Paola Salvatore, Giovanna Del Vecchio Blanco, Carolina Ciacci, Lucia Sacchetti
Published 2019-12-01

The Cause of Death of a Child in the 18th Century Solved by Bone Microbiome Typing Using Laser Microdissection and Next Generation Sequencing

by Valeria D’Argenio, Marielva Torino, Vincenza Precone, Giorgio Casaburi, Maria Valeria Esposito, Laura Iaffaldano, Umberto Malapelle, Giancarlo Troncone, Iolanda Coto, Paolina Cavalcanti, Gaetano De Rosa, Francesco Salvatore, Lucia Sacchetti
Published 2017-01-01

Case Report: Discovery a Novel SARS-CoV-2 Variant in a Six-Months Long-Term Swab Positive Female Suffering From Non-Hodgkin Lymphoma

by Ettore Capoluongo, Ettore Capoluongo, Carmela Nardelli, Carmela Nardelli, Carmela Nardelli, Maria Valeria Esposito, Antonio Riccardo Buonomo, Monica Gelzo, Monica Gelzo, Biagio Pinchera, Emanuela Zappulo, Giulio Viceconte, Giuseppe Portella, Mario Setaro, Ivan Gentile, Giuseppe Castaldo, Giuseppe Castaldo
Published 2021-07-01