Revealing the complexity of a monogenic disease: rett syndrome exome sequencing
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
Published in PloS one (28.02.2013)
Published in PloS one (28.02.2013)
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Droplet digital PCR is a sensitive tool for the detection of TP53 deletions and point mutations in chronic lymphocytic leukaemia
Frazzi, Raffaele, Bizzarri, Veronica, Albertazzi, Laura, Cusenza, Vincenza Ylenia, Coppolecchia, Lia, Luminari, Stefano, Ilariucci, Fiorella
Published in British journal of haematology (01.04.2020)
Published in British journal of haematology (01.04.2020)
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Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding
Maini, Ilenia, Errichiello, Edoardo, Caraffi, Stefano Giuseppe, Rosato, Simonetta, Bizzarri, Veronica, Pollazzon, Marzia, Trimarchi, Gabriele, Contrò, Gianluca, Cavirani, Benedetta, Gelmini, Chiara, Napoli, Manuela, Moratti, Claudio, Pascarella, Rosario, Rizzi, Susanna, Fusco, Carlo, Zuffardi, Orsetta, Garavelli, Livia
Published in Neurogenetics (01.03.2021)
Published in Neurogenetics (01.03.2021)
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Dropped-head in recessive oculopharyngeal muscular dystrophy
Garibaldi, Matteo, Pennisi, Elena Maria, Bruttini, Mirella, Bizzarri, Veronica, Bucci, Elisabetta, Morino, Stefania, Talerico, Caterina, Stoppacciaro, Antonella, Renieri, Alessandra, Antonini, Giovanni
Published in Neuromuscular disorders : NMD (01.11.2015)
Published in Neuromuscular disorders : NMD (01.11.2015)
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Recurrent duplications of 17q12 associated with variable phenotypes
Mitchell, Elyse, Douglas, Andrew, Kjaegaard, Susanne, Callewaert, Bert, Vanlander, Arnaud, Janssens, Sandra, Yuen, Amy Lawson, Skinner, Cindy, Failla, Pinella, Alberti, Antonino, Avola, Emanuela, Fichera, Marco, Kibaek, Maria, Digilio, Maria C., Hannibal, Mark C., den Hollander, Nicolette S., Bizzarri, Veronica, Renieri, Alessandra, Mencarelli, Maria Antonietta, Fitzgerald, Tomas, Piazzolla, Serena, van Oudenhove, Elke, Romano, Corrado, Schwartz, Charles, Eichler, Evan E., Slavotinek, Anne, Escobar, Luis, Rajan, Diana, Crolla, John, Carter, Nigel, Hodge, Jennelle C., Mefford, Heather C.
Published in American journal of medical genetics. Part A (01.12.2015)
Published in American journal of medical genetics. Part A (01.12.2015)
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A Genome Wide Copy Number Variations Analysis in Autism Spectrum Disorder (Asd) and Intellectual Disability (Id) in Italian Families
Mafalda, Mucciolo, Marco, Chiara Di, Canitano, Roberto, Buoni, Sabrina, Frullanti, Elisa, Mencarelli, Maria Antonietta, Veronica, Bizzarri, Amabile, Sonia, Radice, Lucia, Baldassarri, Margherita, Lo Rizzo, Caterina, Meloni, Ilaria, Hayek, Joussef, Renieri, Alessandra, Mari, Francesca
Published in Journal of genetic syndrome & gene therapy (2016)
Published in Journal of genetic syndrome & gene therapy (2016)
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