NSD1 Mutations in Sotos Syndrome Induce Differential Expression of Long Noncoding RNAs, miR646 and Genes Controlling the G2/M Checkpoint

por Conteduca, Giuseppina, Cangelosi, Davide, Coco, Simona, Malacarne, Michela, Baldo, Chiara, Arado, Alessia, Pinto, Rute, Testa, Barbara, Coviello, Domenico A.
Publicado 2022

European registration process for Clinical Laboratory Geneticists in genetic healthcare

por Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Publicado 2017

The distinct clinical features of giant cell tumor of bone in pagetic and non-pagetic patients are associated with genetic, biochemical and histological differences

por Divisato, Giuseppina, di Carlo, Federica Scotto, Pazzaglia, Laura, Rizzo, Riccardo, Coviello, Domenico A., Benassi, Maria Serena, Picci, Piero, Esposito, Teresa, Gianfrancesco, Fernando
Publicado 2017

Regarding the rights and duties of Clinical Laboratory Geneticists in genetic healthcare systems; results of a survey in over 50 countries

por Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
Publicado 2019

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias

por Hayesmoore, Jesse B., Bhuiyan, Zahurul A., Coviello, Domenico A., du Sart, Desirée, Edwards, Matthew, Iascone, Maria, Morris-Rosendahl, Deborah J., Sheils, Katie, van Slegtenhorst, Marjon, Thomson, Kate L.
Publicado 2023

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

por Cecconi, Massimiliano, Parodi, Maria I., Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B., Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, Coviello, Domenico A.
Publicado 2016