Genomic Breakpoints’ Characterization of a Large CHEK2 Duplication in an Italian Family with Hereditary Breast Cancer

por Germani, Aldo, Guadagnolo, Daniele, Salvati, Valentina, Micolonghi, Caterina, Mancini, Rita, Mastromoro, Gioia, Sadeghi, Soha, Petrucci, Simona, Pizzuti, Antonio, Piane, Maria
Publicado 2022

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