MS-MLPA analysis for FMR1 gene: evaluation in a routine diagnostic setting

por Gatta, Valentina, Gennaro, Elena, Franchi, Sara, Cecconi, Massimiliano, Antonucci, Ivana, Tommasi, Marco, Palka, Giandomenico, Coviello, Domenico, Stuppia, Liborio, Grasso, Marina
Publicado 2013

FXS-Like Phenotype in Two Unrelated Patients Carrying a Methylated Premutation of the FMR1 Gene

por Fernández, Esperanza, Gennaro, Elena, Pirozzi, Filomena, Baldo, Chiara, Forzano, Francesca, Turolla, Licia, Faravelli, Francesca, Gastaldo, Denise, Coviello, Domenico, Grasso, Marina, Bagni, Claudia
Publicado 2018

Molecular Analysis and Reclassification of NSD1 Gene Variants in a Cohort of Patients with Clinical Suspicion of Sotos Syndrome

por Testa, Barbara, Conteduca, Giuseppina, Grasso, Marina, Cecconi, Massimiliano, Lantieri, Francesca, Baldo, Chiara, Arado, Alessia, Andraghetti, Laura, Malacarne, Michela, Milani, Donatella, Coviello, Domenico
Publicado 2023

Workload measurement for molecular genetics laboratory: A survey study

por Tagliafico, Enrico, Bernardis, Isabella, Grasso, Marina, D’Apice, Maria Rosaria, Lapucci, Cristina, Botta, Annalisa, Giachino, Daniela Francesca, Marinelli, Maria, Primignani, Paola, Russo, Silvia, Sani, Ilaria, Seia, Manuela, Fini, Sergio, Rimessi, Paola, Tenedini, Elena, Ravani, Anna, Genuardi, Maurizio, Ferlini, Alessandra
Publicado 2018

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

por Garavelli, Livia, Ivanovski, Ivan, Caraffi, Stefano Giuseppe, Santodirocco, Daniela, Pollazzon, Marzia, Cordelli, Duccio Maria, Abdalla, Ebtesam, Accorsi, Patrizia, Adam, Margaret P., Baldo, Chiara, Bayat, Allan, Belligni, Elga, Bonvicini, Federico, Breckpot, Jeroen, Callewaert, Bert, Cocchi, Guido, Cuturilo, Goran, Devriendt, Koenraad, Dinulos, Mary Beth, Djuric, Olivera, Epifanio, Roberta, Faravelli, Francesca, Formisano, Debora, Giordano, Lucio, Grasso, Marina, Grønborg, Sabine, Iodice, Alessandro, Iughetti, Lorenzo, Lacombe, Didier, Maggi, Massimo, Malbora, Baris, Mammi, Isabella, Moutton, Sebastien, Møller, Rikke, Muschke, Petra, Napoli, Manuela, Pantaleoni, Chiara, Pascarella, Rosario, Pellicciari, Alessandro, Poch-Olive, Maria Luisa, Raviglione, Federico, Rivieri, Francesca, Russo, Carmela, Savasta, Salvatore, Scarano, Gioacchino, Selicorni, Angelo, Silengo, Margherita, Sorge, Giovanni, Tarani, Luigi, Tone, Luis Gonzaga, Toutain, Annick, Trimouille, Aurelien, Valera, Elvis Terci, Vergano, Samantha Schrier, Zanotta, Nicoletta, Zollino, Marcella, Dobyns, William B, Paciorkowski, Alex R
Publicado 2017