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

por Magliozzi, Monia, Piane, Maria, Torrente, Isabella, Sinibaldi, Lorenzo, Rizzo, Giovanni, Savio, Camilla, Lulli, Patrizia, De Luca, Alessandro, Dallapiccola, Bruno, Chessa, Luciana
Publicado 2006

Heterozygous Pathogenic Nonsense Variant in the ATM Gene in a Family with Unusually High Gastric Cancer Susceptibility

por Guadagnolo, Daniele, Mastromoro, Gioia, Marchionni, Enrica, Germani, Aldo, Libi, Fabio, Sadeghi, Soha, Savio, Camilla, Petrucci, Simona, De Marchis, Laura, Piane, Maria, Pizzuti, Antonio
Publicado 2023

A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort

por Rubattu, Speranza, Bozzao, Cristina, Pennacchini, Ermelinda, Pagannone, Erika, Musumeci, Beatrice Maria, Piane, Maria, Germani, Aldo, Savio, Camilla, Francia, Pietro, Volpe, Massimo, Autore, Camillo, Chessa, Luciana
Publicado 2016

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

por Cava, Francesco, Cristiano, Ernesto, Musumeci, Maria Beatrice, Savio, Camilla, Germani, Aldo, Monaco, Maria Lo, Petrucci, Simona, Torrisi, Maria Rosaria, Autore, Camillo, Rubattu, Speranza, Piane, Maria
Publicado 2021

A Novel Nonsense Pathogenic TTN Variant Identified in a Patient with Severe Dilated Cardiomyopathy

por Micolonghi, Caterina, Fabiani, Marco, Pagannone, Erika, Savio, Camilla, Ricci, Marta, Caroselli, Silvia, Gambioli, Vittoria, Musumeci, Beatrice, Germani, Aldo, Tini, Giacomo, Autore, Camillo, Pizzuti, Antonio, Visco, Vincenzo, Rubattu, Speranza, Petrucci, Simona, Piane, Maria
Publicado 2023

A New SMAD4 Splice Site Variant in a Three-Generation Italian Family with Juvenile Polyposis Syndrome

por Micolonghi, Caterina, Piane, Maria, Germani, Aldo, Sadeghi, Soha, Libi, Fabio, Savio, Camilla, Fabiani, Marco, Mancini, Rita, Ranieri, Danilo, Pizzuti, Antonio, Corleto, Vito Domenico, Parisi, Pasquale, Visco, Vincenzo, Di Nardo, Giovanni, Petrucci, Simona
Publicado 2022

Long QTc in hypertrophic cardiomyopathy: A consequence of structural myocardial damage or a distinct genetic disease?

por Cava, Francesco, Micolonghi, Caterina, Musumeci, Maria Beatrice, Petrucci, Simona, Savio, Camilla, Fabiani, Marco, Tini, Giacomo, Germani, Aldo, Libi, Fabio, Rossi, Carla, Visco, Vincenzo, Pizzuti, Antonio, Volpe, Massimo, Autore, Camillo, Rubattu, Speranza, Piane, Maria
Publicado 2023

The role of genetic testing in suspected fulminant myocarditis: A case report

por Mistrulli, Raffaella, Micolonghi, Caterina, Follesa, Federico, Fabiani, Marco, Pagannone, Erika, D'Amati, Giulia, Giordano, Carla, Caroselli, Silvia, Savio, Camilla, Germani, Aldo, Pizzuti, Antonio, Visco, Vincenzo, Petrucci, Simona, Rubattu, Speranza, Piane, Maria, Autore, Camillo
Publicado 2023

Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?

por Sciacchitano, Salvatore, De Francesco, Gian Paolo, Piane, Maria, Savio, Camilla, De Vitis, Claudia, Petrucci, Simona, Salvati, Valentina, Goldoni, Marina, Fabiani, Marco, Mesoraca, Alvaro, Micolonghi, Caterina, Torres, Barbara, Piccinetti, Annalisa, Pippi, Roberto, Mancini, Rita
Publicado 2022

Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II

por Marzano, Flaviana, Chiara, Matteo, Consiglio, Arianna, D’Amato, Gabriele, Gentile, Mattia, Mirabelli, Valentina, Piane, Maria, Savio, Camilla, Fabiani, Marco, D’Elia, Domenica, Sbisà, Elisabetta, Scarano, Gioacchino, Lonardo, Fortunato, Tullo, Apollonia, Pesole, Graziano, Faienza, Maria Felicia
Publicado 2023

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

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

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

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