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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Orsini, Alessandro; Santangelo, Andrea; Bravin, Francesca; Bonuccelli, Alice; Peroni, Diego; Battini, Roberta; Foiadelli, Thomas; Bertini, Veronica; Valetto, Angelo; Iacomino, Michele; Nigro, Vincenzo; Torella, Anna Laura; Scala, Marcello; Capra, Valeria; Vari, Maria Stella; Fetta, Anna; Di Pisa, Veronica; Montanari, Francesca; Epifanio, Roberta; Bonanni, Paolo; Giorda, Roberto; Operto, Francesca; Pastorino, Grazia; Sarigecili, Esra; Sardaroglu, Esra; Okuyaz, Cetin; Bozdogan, Sevgan; Musante, Luciana; Faletra, Flavio; Zanus, Caterina; Ferretti, Alessandro; Vigevano, Federico; Striano, Pasquale; Cordelli, Duccio Maria.
Affiliation
  • Orsini A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Santangelo A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Bravin F; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Bonuccelli A; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Peroni D; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Battini R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
  • Foiadelli T; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.
  • Bertini V; Stella Maris Foundation, IRCCS, 56126 Calambrone, Italy.
  • Valetto A; Pediatric Clinic, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, IRCCS Policlinico San Matteo Foundation-University of Pavia, 27100 Pavia, Italy.
  • Iacomino M; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Nigro V; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.
  • Torella AL; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Scala M; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy.
  • Capra V; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy.
  • Vari MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.
  • Fetta A; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Di Pisa V; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Montanari F; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.
  • Epifanio R; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.
  • Bonanni P; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.
  • Giorda R; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
  • Operto F; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, Italy.
  • Pastorino G; Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea Scientific Institute, 31015 Conegliano, Italy.
  • Sarigecili E; Molecular Biology Laboratory, IRCCS E. Medea Scientific Institute, 23842 Bosisio Parini, Italy.
  • Sardaroglu E; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy.
  • Okuyaz C; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy.
  • Bozdogan S; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey.
  • Musante L; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey.
  • Faletra F; Department of Pediatric Neurology, Mersin University, Mersin 33110, Turkey.
  • Zanus C; Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana 01330, Turkey.
  • Ferretti A; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
  • Vigevano F; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
  • Striano P; Child Neuropsychiatry Unit, Institute for Maternal and Child Health-IRCCS "Burlo Garofolo", 34137 Trieste, Italy.
  • Cordelli DM; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Genes (Basel) ; 13(2)2022 01 30.
Article in En | MEDLINE | ID: mdl-35205321
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Intellectual Disability Type of study: Observational_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: Genes (Basel) Year: 2022 Type: Article Affiliation country: Italy
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsy / Intellectual Disability Type of study: Observational_studies / Risk_factors_studies Limits: Child / Humans Language: En Journal: Genes (Basel) Year: 2022 Type: Article Affiliation country: Italy