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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Garavelli, Livia; Ivanovski, Ivan; Caraffi, Stefano Giuseppe; Santodirocco, Daniela; Pollazzon, Marzia; Cordelli, Duccio Maria; Abdalla, Ebtesam; Accorsi, Patrizia; Adam, Margaret P; Baldo, Chiara; Bayat, Allan; Belligni, Elga; Bonvicini, Federico; Breckpot, Jeroen; Callewaert, Bert; Cocchi, Guido; Cuturilo, Goran; Devriendt, Koenraad; Dinulos, Mary Beth; Djuric, Olivera; Epifanio, Roberta; Faravelli, Francesca; Formisano, Debora; Giordano, Lucio; Grasso, Marina; Grønborg, Sabine; Iodice, Alessandro; Iughetti, Lorenzo; Lacombe, Didier; Maggi, Massimo; Malbora, Baris; Mammi, Isabella; Moutton, Sebastien; Møller, Rikke; Muschke, Petra; Napoli, Manuela; Pantaleoni, Chiara; Pascarella, Rosario; Pellicciari, Alessandro; Poch-Olive, Maria Luisa; Raviglione, Federico; Rivieri, Francesca; Russo, Carmela; Savasta, Salvatore; Scarano, Gioacchino; Selicorni, Angelo; Silengo, Margherita; Sorge, Giovanni; Tarani, Luigi; Tone, Luis Gonzaga.
Afiliación
  • Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Caraffi SG; Department of Surgical, Medical, Dental, and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.
  • Santodirocco D; Laboratory of Translational Research, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Cordelli DM; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Abdalla E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Accorsi P; Department of Medical Genetics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.
  • Adam MP; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.
  • Baldo C; Neurophychiatric Department, Spedali Civili Brescia, Italy.
  • Bayat A; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.
  • Belligni E; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
  • Bonvicini F; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.
  • Breckpot J; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.
  • Callewaert B; Department of Paediatrics, University of Torino, Torino, Italy.
  • Cocchi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Cuturilo G; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
  • Dinulos MB; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
  • Djuric O; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Epifanio R; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.
  • Faravelli F; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.
  • Formisano D; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.
  • Giordano L; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.
  • Grasso M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Grønborg S; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Lecco, Italy.
  • Iodice A; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
  • Iughetti L; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Lacombe D; Neurophychiatric Department, Spedali Civili Brescia, Italy.
  • Maggi M; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.
  • Malbora B; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.
  • Mammi I; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Moutton S; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.
  • Møller R; Génétique Médicale, CHU, Bordeaux, France.
  • Muschke P; INSERM U1211, Univ. Bordeaux, Bordeaux, France.
  • Napoli M; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Pantaleoni C; Department of Pediatric Hematology &Oncology, Tepecik Training and Research Hospital, Izmir, Turkey.
  • Pascarella R; Medical Genetics Unit, Dolo Hospital, Venice, Italy.
  • Pellicciari A; Génétique Médicale, CHU, Bordeaux, France.
  • Poch-Olive ML; CHU Bordeaux, Centre de Référence des Anomalies du Développement Embryonnaire, Service de Génétique Médicale, Bordeaux, France.
  • Raviglione F; Danish Epilepsy Centre, Dianalund, Denmark.
  • Rivieri F; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Russo C; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
  • Savasta S; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Scarano G; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico "C. Besta," Milan, Italy.
  • Selicorni A; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.
  • Silengo M; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.
  • Sorge G; Department of Pediatrics, H. San Pedro, Logrono, Spain.
  • Tarani L; Clinical Neurophysiology and Epilepsy Center, Carlo Besta Neurological Institute, IRCCS, Milano, Italy.
  • Tone LG; Genetics Unit, St Chiara Hospital, Trento, Italy.
Genet Med ; 19(6): 691-700, 2017 06.
Article en En | MEDLINE | ID: mdl-27831545
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Imagen por Resonancia Magnética / Neuroimagen / Enfermedad de Hirschsprung / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Italia
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encéfalo / Imagen por Resonancia Magnética / Neuroimagen / Enfermedad de Hirschsprung / Discapacidad Intelectual / Microcefalia Tipo de estudio: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2017 Tipo del documento: Article País de afiliación: Italia