Metabolic progression to clinical phenotype in classic Fabry disease

door Spada, Marco, Kasper, David, Pagliardini, Veronica, Biamino, Elisa, Giachero, Silvana, Porta, Francesco
Gepubliceerd in Ital J Pediatr (2017)

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

door Belligni, Elga F, Biamino, Elisa, Molinatto, Cristina, Messa, Jole, Pierluigi, Mauro, Faravelli, Francesca, Zuffardi, Orsetta, Ferrero, Giovanni B, Silengo, Margherita Cirillo
Gepubliceerd in 2009

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

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

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

door 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
Gepubliceerd in 2012

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

door 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
Gepubliceerd in Stem Cell Rev Rep (2019)

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

door 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
Gepubliceerd in Hum Genet (2019)

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

door 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
Gepubliceerd in Mol Cytogenet (2014)

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

door 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
Gepubliceerd in Hum Mutat (2014)