DHPLC Screening of ATM Gene in Italian Patients Affected by Ataxia-Telangiectasia: Fourteen Novel ATM Mutations

by Monia Magliozzi, Maria Piane, Isabella Torrente, Lorenzo Sinibaldi, Giovanni Rizzo, Camilla Savio, Patrizia Lulli, Alessandro De Luca, Bruno Dallapiccola, Luciana Chessa
Published 2006-01-01

TNNI3 and KCNQ1 co-inherited variants in a family with hypertrophic cardiomyopathy and long QT phenotypes: A case report

by Francesco Cava, Ernesto Cristiano, Maria Beatrice Musumeci, Camilla Savio, Aldo Germani, Maria Lo Monaco, Simona Petrucci, Maria Rosaria Torrisi, Camillo Autore, Speranza Rubattu, Maria Piane
Published 2021-06-01

Risk Stratification in Hypertrophic Cardiomyopathy. Insights from Genetic Analysis and Cardiopulmonary Exercise Testing

by Damiano Magrì, Vittoria Mastromarino, Giovanna Gallo, Elisabetta Zachara, Federica Re, Piergiuseppe Agostoni, Dario Giordano, Speranza Rubattu, Maurizio Forte, Maria Cotugno, Maria Rosaria Torrisi, Simona Petrucci, Aldo Germani, Camilla Savio, Antonello Maruotti, Massimo Volpe, Camillo Autore, Maria Piane, Beatrice Musumeci
Published 2020-05-01

Beyond <i>BRCA1</i> and <i>BRCA2</i>: Deleterious Variants in DNA Repair Pathway Genes in Italian Families with Breast/Ovarian and Pancreatic Cancers

by Aldo Germani, Simona Petrucci, Laura De Marchis, Fabio Libi, Camilla Savio, Claudio Amanti, Adriana Bonifacino, Barbara Campanella, Carlo Capalbo, Augusto Lombardi, Stefano Maggi, Mauro Mattei, Mattia Falchetto Osti, Patrizia Pellegrini, Annarita Speranza, Gianluca Stanzani, Valeria Vitale, Antonio Pizzuti, Maria Rosaria Torrisi, Maria Piane
Published 2020-09-01