Neurofibromatosis Type 1: Pediatric Aspects and Review of Genotype-Phenotype Correlations
Peduto, Cristina, Zanobio, Mariateresa, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio, Santoro, Claudia
Published in Cancers (14.02.2023)
Published in Cancers (14.02.2023)
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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience
Fortunato, Fernanda, Bianchi, Francesca, Ricci, Giulia, Torri, Francesca, Gualandi, Francesca, Neri, Marcella, Farnè, Marianna, Giannini, Fabio, Malandrini, Alessandro, Volpi, Nila, Lopergolo, Diego, Silani, Vincenzo, Ticozzi, Nicola, Verde, Federico, Pareyson, Davide, Fenu, Silvia, Bonanno, Silvia, Nigro, Vincenzo, Peduto, Cristina, D'Ambrosio, Paola, Zeuli, Roberta, Zanobio, Mariateresa, Picillo, Esther, Servidei, Serenella, Primiano, Guido, Sancricca, Cristina, Sciacco, Monica, Brusa, Roberta, Filosto, Massimiliano, Cotti Piccinelli, Stefano, Pegoraro, Elena, Mongini, Tiziana, Solero, Luca, Gadaleta, Giulio, Brusa, Chiara, Minetti, Carlo, Bruno, Claudio, Panicucci, Chiara, Sansone, Valeria A, Lunetta, Christian, Zanolini, Alice, Toscano, Antonio, Pugliese, Alessia, Nicocia, Giulia, Bertini, Enrico, Catteruccia, Michela, Diodato, Daria, Atalaia, Antonio, Evangelista, Teresinha, Siciliano, Gabriele, Ferlini, Alessandra
Published in Orphanet journal of rare diseases (21.07.2023)
Published in Orphanet journal of rare diseases (21.07.2023)
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Are SHROOM4 loss‐of‐function variants pathogenic?
Peduto, Cristina, Piluso, Giulio, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Published in American journal of medical genetics. Part A (01.11.2022)
Published in American journal of medical genetics. Part A (01.11.2022)
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Joint contractures is a recurrent clinical feature of individuals with neurodevelopmental disorder due to FOXP1 likely gene disruptive variants
Peduto, Cristina, Cappuccio, Gerarda, Zeuli, Roberta, Zanobio, Mariateresa, Torella, Annalaura, Alkuraya, Fowzan S., Joss, Shelagh, Daolio, Cecilia, Spinelli, Alessandro Mauro, Zampieri, Stefania, Nigro, Vincenzo, Brunetti‐Pierri, Nicola
Published in American journal of medical genetics. Part A (26.06.2024)
Published in American journal of medical genetics. Part A (26.06.2024)
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A novel MEIS2 mutation explains the complex phenotype in a boy with a typical NF1 microdeletion syndrome
Santoro, Claudia, Riccio, Simona, Palladino, Federica, Aliberti, Ferdinando, Carotenuto, Marco, Zanobio, Mariateresa, Peduto, Cristina, Nigro, Vincenzo, Perrotta, Silverio, Piluso, Giulio
Published in European journal of medical genetics (01.05.2021)
Published in European journal of medical genetics (01.05.2021)
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Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
Mastromoro, Gioia, Santoro, Claudia, Motta, Marialetizia, Sorrentino, Ugo, Daniele, Paola, Peduto, Cristina, Petrizzelli, Francesco, Tripodi, Martina, Pinna, Valentina, Zanobio, Mariateresa, Rotundo, Giovannina, Bellacchio, Emanuele, Lepri, Francesca, Farina, Antonella, D’Asdia, Maria Cecilia, Piceci-Sparascio, Francesca, Biagini, Tommaso, Petracca, Antonio, Castori, Marco, Melis, Daniela, Accadia, Maria, Traficante, Giovanna, Tarani, Luigi, Fontana, Paolo, Sirchia, Fabio, Paparella, Roberto, Currò, Aurora, Benedicenti, Francesco, Scala, Iris, Dentici, Maria Lisa, Leoni, Chiara, Trevisan, Valentina, Cecconi, Antonella, Giustini, Sandra, Pizzuti, Antonio, Salviati, Leonardo, Novelli, Antonio, Zampino, Giuseppe, Zenker, Martin, Genuardi, Maurizio, Digilio, Maria Cristina, Papi, Laura, Perrotta, Silverio, Nigro, Vincenzo, Castellanos, Elisabeth, Mazza, Tommaso, Trevisson, Eva, Tartaglia, Marco, Piluso, Giulio, De Luca, Alessandro
Published in Genetics in medicine (10.08.2024)
Published in Genetics in medicine (10.08.2024)
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Patients with DeSanto–Shinawi syndrome: Further extension of phenotype from Italy
Pasquali, Daniela, Torella, Annalaura, Grandone, Anna, Luongo, Caterina, Morleo, Manuela, Peduto, Cristina, Fraia, Rosa, Selvaggio, Lucia Digitale, Allosso, Francesca, Accardo, Giacomo, Zanobio, Maria Teresa, Maitz, Silvia, Mariani, Milena, Selicorni, Angelo, Banfi, Sandro, Nigro, Vincenzo
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Postnatal microcephaly and retinal involvement expand the phenotype of RPL10‐related disorder
Cappuccio, Gerarda, De Bernardi, Margherita Lucia, Morlando, Alessia, Peduto, Cristina, Scala, Iris, Pinelli, Michele, Bellacchio, Emanuele, Gallo, Flavio Gioele, Magli, Adriano, Plaitano, Carmen, Serrano, Mercedes, Pías, Leticia, Català, Jaume, Bolasell, Mercè, Torella, Annalaura, Nigro, Vincenzo, Zanni, Ginevra, Brunetti‐Pierri, Nicola
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy
Pasquali, Daniela, Torella, Annalaura, Grandone, Anna, Luongo, Caterina, Morleo, Manuela, Peduto, Cristina, di Fraia, Rosa, Selvaggio, Lucia Digitale, Allosso, Francesca, Accardo, Giacomo, Zanobio, Maria Teresa, Maitz, Silvia, Mariani, Milena, Selicorni, Angelo, Banfi, Sandro, Nigro, Vincenzo
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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