Cardiovascular Involvement in Pediatric Laminopathies. Report of Six Patients and Literature Revision

by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Maria Gnazzo, Nicoletta Cantarutti, Massimo Stefano Silvetti, Rachele Adorisio, Bruno Dallapiccola, Enrico Bertini, Antonio Novelli, Fabrizio Drago
Published 2020-07-01

Immune dysregulation in Kabuki syndrome: a case report of Evans syndrome and hypogammaglobulinemia

by Lucia Leonardi, Alessia Testa, Mariavittoria Feleppa, Roberto Paparella, Francesca Conti, Antonio Marzollo, Alberto Spalice, Fiorina Giona, Maria Gnazzo, Gian Marco Andreoli, Francesco Costantino, Luigi Tarani
Published 2023-06-01

Obsessive Compulsive Symptoms and Psychopathological Profile in Children and Adolescents with KBG syndrome

by Paolo Alfieri, Francesco Demaria, Serena Licchelli, Ornella Santonastaso, Cristina Caciolo, Maria Cristina Digilio, Lorenzo Sinibaldi, Chiara Leoni, Maria Gnazzo, Marco Tartaglia, Patrizio Pasqualetti, Stefano Vicari
Published 2019-11-01

Olfactory bulb anomalies in KBG syndrome mouse model and patients

by Kara Goodkey, Anita Wischmeijer, Laurence Perrin, Adrianne E. S. Watson, Leenah Qureshi, Duccio Maria Cordelli, Francesco Toni, Maria Gnazzo, Francesco Benedicenti, Monique Elmaleh-Bergès, Karen J. Low, Anastassia Voronova
Published 2024-04-01

Cognitive and Adaptive Characterization of Children and Adolescents with KBG Syndrome: An Explorative Study

by Paolo Alfieri, Cristina Caciolo, Giulia Lazzaro, Deny Menghini, Francesca Cumbo, Maria Lisa Dentici, Maria Cristina Digilio, Maria Gnazzo, Francesco Demaria, Virginia Pironi, Giuseppe Zampino, Antonio Novelli, Marco Tartaglia, Stefano Vicari
Published 2021-04-01

Extensive Molecular Analysis Suggested the Strong Genetic Heterogeneity of Idiopathic Chronic Pancreatitis

by Valentina Maria Sofia, Letizia Da Sacco, Cecilia Surace, Anna Cristina Tomaiuolo, Silvia Genovese, Simona Grotta, Maria Gnazzo, Stefano Petrocchi, Laura Ciocca, Federico Alghisi, Enza Montemitro, Luigi Martemucci, Ausilia Elce, Vincenzina Lucidi, Giuseppe Castaldo, Adriano Angioni
Published 2016-05-01

Biallelic truncating variants in children with titinopathy represent a recognizable condition with distinctive muscular and cardiac characteristics: a report on five patients

by Anwar Baban, Marianna Cicenia, Monia Magliozzi, Giovanni Parlapiano, Giovanni Parlapiano, Marco Cirillo, Giulia Pascolini, Giulia Pascolini, Fabiana Fattori, Maria Gnazzo, Pasqualina Bruno, Lorenzo De Luca, Luca Di Chiara, Paola Francalanci, Bjarne Udd, Bjarne Udd, Bjarne Udd, Aurelio Secinaro, Antonio Amodeo, Enrico Silvio Bertini, Marco Savarese, Marco Savarese, Fabrizio Drago, Antonio Novelli
Published 2023-07-01