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Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.

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Title: Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
Authors: 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.; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy., Battini R; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.; Stella Maris Foundation, IRCCS, 56126 Calambrone, Italy., Foiadelli T; Pediatric Clinic, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, IRCCS Policlinico San Matteo Foundation-University of Pavia, 27100 Pavia, Italy., Bertini V; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Valetto A; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy., Iacomino M; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Nigro V; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy., Torella AL; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy., Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Capra V; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Vari MS; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Fetta A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy., Di Pisa V; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy., Montanari F; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy., Epifanio R; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, Italy., Bonanni P; Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea Scientific Institute, 31015 Conegliano, Italy., Giorda R; Molecular Biology Laboratory, IRCCS E. Medea Scientific Institute, 23842 Bosisio Parini, Italy., Operto F; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy., Pastorino G; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy., Sarigecili E; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey., Sardaroglu E; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey., Okuyaz C; Department of Pediatric Neurology, Mersin University, Mersin 33110, Turkey., Bozdogan S; Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana 01330, Turkey., Musante L; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Faletra F; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Zanus C; Child Neuropsychiatry Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy., Ferretti A; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy., Vigevano F; Neuroscience Department, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EPICARE, 00165 Rome, Italy., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.
Source: Genes [Genes (Basel)] 2022 Jan 30; Vol. 13 (2). Date of Electronic Publication: 2022 Jan 30.
Publication Type: Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding Phenotype of Poirier-Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients.
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  Data: <searchLink fieldCode="AU" term="%22Orsini+A%22">Orsini A</searchLink>; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Santangelo+A%22">Santangelo A</searchLink>; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Bravin+F%22">Bravin F</searchLink>; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Bonuccelli+A%22">Bonuccelli A</searchLink>; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Peroni+D%22">Peroni D</searchLink>; Pediatric Neurology, Pediatric Department, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Battini+R%22">Battini R</searchLink>; Department of Clinical and Experimental Medicine, University of Pisa, 56126 Pisa, Italy.; Stella Maris Foundation, IRCCS, 56126 Calambrone, Italy.<br /><searchLink fieldCode="AU" term="%22Foiadelli+T%22">Foiadelli T</searchLink>; Pediatric Clinic, Department of Clinical-Surgical, Diagnostic and Pediatric Sciences, IRCCS Policlinico San Matteo Foundation-University of Pavia, 27100 Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+V%22">Bertini V</searchLink>; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Valetto+A%22">Valetto A</searchLink>; Cytogenetics Unit, Santa Chiara University Hospital, Azienda Ospedaliero Universitaria Pisana, 56126 Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Iacomino+M%22">Iacomino M</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Nigro+V%22">Nigro V</searchLink>; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Torella+AL%22">Torella AL</searchLink>; Medical Genetics, Department of Biochemistry, Biophysics and General Pathology University of Campania, Luigi Vanvitelli, 81100 Caserta, Italy.<br /><searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Capra+V%22">Capra V</searchLink>; Unit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Vari+MS%22">Vari MS</searchLink>; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Fetta+A%22">Fetta A</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Pisa+V%22">Di Pisa V</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Montanari+F%22">Montanari F</searchLink>; U.O. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Epifanio+R%22">Epifanio R</searchLink>; Clinical Neurophysiology Unit, Scientific Institute IRCCS E. Medea, 23842 Bosisio Parini, Italy.<br /><searchLink fieldCode="AU" term="%22Bonanni+P%22">Bonanni P</searchLink>; Epilepsy and Clinical Neurophysiology Unit, IRCCS E. Medea Scientific Institute, 31015 Conegliano, Italy.<br /><searchLink fieldCode="AU" term="%22Giorda+R%22">Giorda R</searchLink>; Molecular Biology Laboratory, IRCCS E. Medea Scientific Institute, 23842 Bosisio Parini, Italy.<br /><searchLink fieldCode="AU" term="%22Operto+F%22">Operto F</searchLink>; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy.<br /><searchLink fieldCode="AU" term="%22Pastorino+G%22">Pastorino G</searchLink>; Child Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, 84084 Fisciano, Italy.<br /><searchLink fieldCode="AU" term="%22Sarigecili+E%22">Sarigecili E</searchLink>; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Sardaroglu+E%22">Sardaroglu E</searchLink>; Department of Pediatric Neurology, Gazi University Faculty of Medicine, 06500 Ankara, Turkey.<br /><searchLink fieldCode="AU" term="%22Okuyaz+C%22">Okuyaz C</searchLink>; Department of Pediatric Neurology, Mersin University, Mersin 33110, Turkey.<br /><searchLink fieldCode="AU" term="%22Bozdogan+S%22">Bozdogan S</searchLink>; Department of Medical Genetics, Balcali Clinics and Hospital, Faculty of Medicine, Cukurova University, Adana 01330, Turkey.<br /><searchLink fieldCode="AU" term="%22Musante+L%22">Musante L</searchLink>; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Faletra+F%22">Faletra F</searchLink>; Medical Genetics Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Zanus+C%22">Zanus C</searchLink>; Child Neuropsychiatry Unit, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', 34137 Trieste, Italy.<br /><searchLink fieldCode="AU" term="%22Ferretti+A%22">Ferretti A</searchLink>; Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Vigevano+F%22">Vigevano F</searchLink>; Neuroscience Department, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EPICARE, 00165 Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Striano+P%22">Striano P</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16147 Genoa, Italy.; Paediatric Neurology and Muscular Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy.<br /><searchLink fieldCode="AU" term="%22Cordelli+DM%22">Cordelli DM</searchLink>; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, 40138 Bologna, Italy.
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