Genetic education and the challenge of genomic medicine: development of core competences to support preparation of health professionals in Europe

by Skirton, Heather, Lewis, Celine, Kent, Alastair, Coviello, Domenico A
Published 2010

Use of parthenogenetic activation of human oocytes as an experimental model for evaluation of polar body based PGD assay performance

by Paffoni, Alessio, Paracchini, Valentina, Ferrari, Stefania, Scarduelli, Claudia, Seia, Manuela, Coviello, Domenico A., Ragni, Guido
Published 2011

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo)

by Crimi, Marco, Mineri, Rossana, Godino, Lea, Bertonazzi, Benedetta, Bruzzone, Carla, Pivetta, Barbara, Cordier, Christophe, Coviello, Domenico A., Feroce, Irene
Published in J Community Genet (2020)

European registration process for Clinical Laboratory Geneticists in genetic healthcare

by Liehr, Thomas, Carreira, Isabel M, Aktas, Dilek, Bakker, Egbert, Rodríguez de Alba, Marta, Coviello, Domenico A, Florentin, Lina, Scheffer, Hans, Rincic, Martina
Published in Eur J Hum Genet (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

by Divisato, Giuseppina, di Carlo, Federica Scotto, Pazzaglia, Laura, Rizzo, Riccardo, Coviello, Domenico A., Benassi, Maria Serena, Picci, Piero, Esposito, Teresa, Gianfrancesco, Fernando
Published in Oncotarget (2017)

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

by Liehr, Thomas, Carreira, Isabel M., Balogh, Zsofia, Garrido, Elena Dominguez, Verdorfer, Irmgard, Coviello, Domenico A., Florentin, Lina, Scheffer, Hans, Rincic, Martina, Williams, Heather E.
Published in Eur J Hum Genet (2019)

Cystic Fibrosis Newborn Screening: Distribution of Blood Immunoreactive Trypsinogen Concentrations in Hypertrypsinemic Neonates

by Paracchini, Valentina, Seia, Manuela, Raimondi, Sara, Costantino, Lucy, Capasso, Patrizia, Porcaro, Luigi, Colombo, Carla, Coviello, Domenico A, Mariani, Tiziana, Manzoni, Emanuela, Sangiovanni, Monica, Corbetta, Carlo
Published 2011

A Novel Methylation PCR that Offers Standardized Determination of FMR1 Methylation and CGG Repeat Length without Southern Blot Analysis

by Grasso, Marina, Boon, Elles M.J., Filipovic-Sadic, Stela, van Bunderen, Patrick A., Gennaro, Elena, Cao, Ru, Latham, Gary J., Hadd, Andrew G., Coviello, Domenico A.
Published 2014

Banking together. A unified model of informed consent for biobanking

by Salvaterra, Elena, Lecchi, Lucilla, Giovanelli, Silvia, Butti, Barbara, Bardella, Maria Teresa, Bertazzi, Pier Alberto, Bosari, Silvano, Coggi, Guido, Coviello, Domenico A, Lalatta, Faustina, Moggio, Maurizio, Nosotti, Mario, Zanella, Alberto, Rebulla, Paolo
Published 2008

Two ABCB4 point mutations of strategic NBD-motifs do not prevent protein targeting to the plasma membrane but promote MDR3 dysfunction

by Degiorgio, Dario, Corsetto, Paola A, Rizzo, Angela M, Colombo, Carla, Seia, Manuela, Costantino, Lucy, Montorfano, Gigliola, Tomaiuolo, Rossella, Bordo, Domenico, Sansanelli, Serena, Li, Min, Tavian, Daniela, Rastaldi, Maria P, Coviello, Domenico A
Published 2014

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

by 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.
Published in Int J Mol Med (2016)

ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

by Di Gregorio, Eleonora, Borroni, Barbara, Giorgio, Elisa, Lacerenza, Daniela, Ferrero, Marta, Lo Buono, Nicola, Ragusa, Neftj, Mancini, Cecilia, Gaussen, Marion, Calcia, Alessandro, Mitro, Nico, Hoxha, Eriola, Mura, Isabella, Coviello, Domenico A., Moon, Young-Ah, Tesson, Christelle, Vaula, Giovanna, Couarch, Philippe, Orsi, Laura, Duregon, Eleonora, Papotti, Mauro Giulio, Deleuze, Jean-François, Imbert, Jean, Costanzi, Chiara, Padovani, Alessandro, Giunti, Paola, Maillet-Vioud, Marcel, Durr, Alexandra, Brice, Alexis, Tempia, Filippo, Funaro, Ada, Boccone, Loredana, Caruso, Donatella, Stevanin, Giovanni, Brusco, Alfredo
Published 2014