Metabolic progression to clinical phenotype in classic Fabry disease

Por Spada, Marco, Kasper, David, Pagliardini, Veronica, Biamino, Elisa, Giachero, Silvana, Porta, Francesco
Publicado no Ital J Pediatr (2017)

Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability

Por Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Publicado em 2009

An atypical 7q11.23 deletion in a normal IQ Williams–Beuren syndrome patient

Por Ferrero, Giovanni Battista, Howald, Cédric, Micale, Lucia, Biamino, Elisa, Augello, Bartolomeo, Fusco, Carmela, Turturo, Maria Giuseppina, Forzano, Serena, Reymond, Alexandre, Merla, Giuseppe
Publicado em 2010

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Por Caputo, Viviana, Cianetti, Luciano, Niceta, Marcello, Carta, Claudio, Ciolfi, Andrea, Bocchinfuso, Gianfranco, Carrani, Eugenio, Dentici, Maria Lisa, Biamino, Elisa, Belligni, Elga, Garavelli, Livia, Boccone, Loredana, Melis, Daniela, Andria, Generoso, Gelb, Bruce D., Stella, Lorenzo, Silengo, Margherita, Dallapiccola, Bruno, Tartaglia, Marco
Publicado em 2012

Intrahepatic Administration of Human Liver Stem Cells in Infants with Inherited Neonatal-Onset Hyperammonemia: A Phase I Study

Por Spada, Marco, Porta, Francesco, Righi, Dorico, Gazzera, Carlo, Tandoi, Francesco, Ferrero, Ivana, Fagioli, Franca, Sanchez, Maria Beatriz Herrera, Calvo, Pier Luigi, Biamino, Elisa, Bruno, Stefania, Gunetti, Monica, Contursi, Cristina, Lauritano, Carola, Conio, Alessandra, Amoroso, Antonio, Salizzoni, Mauro, Silengo, Lorenzo, Camussi, Giovanni, Romagnoli, Renato
Publicado no Stem Cell Rev Rep (2019)

Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Por Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena, Biamino, Elisa, Piccione, Maria, Sotgiu, Stefano, Perrìa, Chiara, Vitiello, Giuseppina, Frontali, Marina, Boni, Antonella, Fede, Elisabetta Di, Gandini, Maria Chiara, Colombo, Elisa Adele, Bamshad, Michael J., Nickerson, Deborah A., Smith, Joshua D., Loddo, Italia, Finelli, Palma, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina
Publicado no Hum Genet (2019)

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

Por Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Publicado no Mol Cytogenet (2014)

Molecular Analysis, Pathogenic Mechanisms, and Readthrough Therapy on a Large Cohort of Kabuki Syndrome Patients

Por Micale, Lucia, Augello, Bartolomeo, Maffeo, Claudia, Selicorni, Angelo, Zucchetti, Federica, Fusco, Carmela, De Nittis, Pasquelena, Pellico, Maria Teresa, Mandriani, Barbara, Fischetto, Rita, Boccone, Loredana, Silengo, Margherita, Biamino, Elisa, Perria, Chiara, Sotgiu, Stefano, Serra, Gigliola, Lapi, Elisabetta, Neri, Marcella, Ferlini, Alessandra, Cavaliere, Maria Luigia, Chiurazzi, Pietro, Monica, Matteo Della, Scarano, Gioacchino, Faravelli, Francesca, Ferrari, Paola, Mazzanti, Laura, Pilotta, Alba, Patricelli, Maria Grazia, Bedeschi, Maria Francesca, Benedicenti, Francesco, Prontera, Paolo, Toschi, Benedetta, Salviati, Leonardo, Melis, Daniela, Di Battista, Eliana, Vancini, Alessandra, Garavelli, Livia, Zelante, Leopoldo, Merla, Giuseppe
Publicado no Hum Mutat (2014)