Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/−) patients and in foxg1(+/−) mice

Por Patriarchi, Tommaso, Amabile, Sonia, Frullanti, Elisa, Landucci, Elisa, Lo Rizzo, Caterina, Ariani, Francesca, Costa, Mario, Olimpico, Francesco, W Hell, Johannes, M Vaccarino, Flora, Renieri, Alessandra, Meloni, Ilaria
Publicado no Eur J Hum Genet (2016)

GluD1 is a common altered player in neuronal differentiation from both MECP2-mutated and CDKL5-mutated iPS cells

Por Livide, Gabriella, Patriarchi, Tommaso, Amenduni, Mariangela, Amabile, Sonia, Yasui, Dag, Calcagno, Eleonora, Lo Rizzo, Caterina, De Falco, Giulia, Ulivieri, Cristina, Ariani, Francesca, Mari, Francesca, Mencarelli, Maria Antonietta, Hell, Johannes Wilhelm, Renieri, Alessandra, Meloni, Ilaria
Publicado em 2015

Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing

Por Grillo, Elisa, Lo Rizzo, Caterina, Bianciardi, Laura, Bizzarri, Veronica, Baldassarri, Margherita, Spiga, Ottavia, Furini, Simone, De Felice, Claudio, Signorini, Cinzia, Leoncini, Silvia, Pecorelli, Alessandra, Ciccoli, Lucia, Mencarelli, Maria Antonietta, Hayek, Joussef, Meloni, Ilaria, Ariani, Francesca, Mari, Francesca, Renieri, Alessandra
Publicado em 2013

Next generation sequencing in sporadic retinoblastoma patients reveals somatic mosaicism

Por Amitrano, Sara, Marozza, Annabella, Somma, Serena, Imperatore, Valentina, Hadjistilianou, Theodora, De Francesco, Sonia, Toti, Paolo, Galimberti, Daniela, Meloni, Ilaria, Cetta, Francesco, Piu, Pietro, Di Marco, Chiara, Dosa, Laura, Lo Rizzo, Caterina, Carignani, Giulia, Mencarelli, Maria Antonietta, Mari, Francesca, Renieri, Alessandra, Ariani, Francesca
Publicado no Eur J Hum Genet (2015)