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Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.

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Title: Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
Authors: 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.; Department of Surgical, Medical, Dental, and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy., Caraffi SG; Laboratory of Translational Research, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, 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; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Abdalla E; Department of Medical Genetics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt., Accorsi P; Neurophychiatric Department, Spedali Civili Brescia, Italy., Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Baldo C; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy., Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark., Belligni E; Department of Paediatrics, University of Torino, Torino, Italy., Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Breckpot J; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Callewaert B; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium., Cocchi G; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy., Cuturilo G; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia., Devriendt K; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium., Dinulos MB; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA., Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Lecco, Italy., Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Giordano L; Neurophychiatric Department, Spedali Civili Brescia, Italy., Grasso M; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy., Grønborg S; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark., Iodice A; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Iughetti L; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy., Lacombe D; Génétique Médicale, CHU, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Maggi M; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Malbora B; Department of Pediatric Hematology &Oncology, Tepecik Training and Research Hospital, Izmir, Turkey., Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy., Moutton S; Génétique Médicale, CHU, Bordeaux, France.; CHU Bordeaux, Centre de Référence des Anomalies du Développement Embryonnaire, Service de Génétique Médicale, Bordeaux, France., Møller R; Danish Epilepsy Centre, Dianalund, Denmark.; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark., Muschke P; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Napoli M; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,' Milan, Italy., Pascarella R; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Poch-Olive ML; Department of Pediatrics, H. San Pedro, Logrono, Spain., Raviglione F; Clinical Neurophysiology and Epilepsy Center, Carlo Besta Neurological Institute, IRCCS, Milano, Italy., Rivieri F; Genetics Unit, St Chiara Hospital, Trento, Italy., Russo C; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy., Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital,Benevento, Italy., Selicorni A; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy., Silengo M; Department of Paediatrics, University of Torino, Torino, Italy., Sorge G; Department of Pediatrics and Medical sciences, ''Vittorio Emanuele' Hospital, University of Catania, Catania, Italy., Tarani L; Department of Pediatrics, University ''La Sapienza,'' Rome, Italy., Tone LG; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Toutain A; Department of Genetics, Tours University Hospital, Tours, France., Trimouille A; Génétique Médicale, CHU, Bordeaux, France., Valera ET; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil., Vergano SS; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA., Zanotta N; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Lecco, Italy., Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Roma, Italy., Dobyns WB; Department of Pediatrics and Department of Neurology, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA., Paciorkowski AR; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, USA.; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.; Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, New York, USA.; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, USA.
Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2017 Jun; Vol. 19 (6), pp. 691-700. Date of Electronic Publication: 2016 Nov 10.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE
Database: MEDLINE Ultimate
FullText Text:
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DbLabel: MEDLINE Ultimate
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PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients.
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  Data: <searchLink fieldCode="AU" term="%22Garavelli+L%22">Garavelli L</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Ivanovski+I%22">Ivanovski I</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Department of Surgical, Medical, Dental, and Morphological Sciences with interest in Transplant, Oncology and Regenerative Medicine, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Caraffi+SG%22">Caraffi SG</searchLink>; Laboratory of Translational Research, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Santodirocco+D%22">Santodirocco D</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Pollazzon+M%22">Pollazzon M</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Cordelli+DM%22">Cordelli DM</searchLink>; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Abdalla+E%22">Abdalla E</searchLink>; Department of Medical Genetics, Faculty of Medicine, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt.<br /><searchLink fieldCode="AU" term="%22Accorsi+P%22">Accorsi P</searchLink>; Neurophychiatric Department, Spedali Civili Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Adam+MP%22">Adam MP</searchLink>; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Baldo+C%22">Baldo C</searchLink>; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Bayat+A%22">Bayat A</searchLink>; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Belligni+E%22">Belligni E</searchLink>; Department of Paediatrics, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Bonvicini+F%22">Bonvicini F</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Breckpot+J%22">Breckpot J</searchLink>; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Callewaert+B%22">Callewaert B</searchLink>; Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.<br /><searchLink fieldCode="AU" term="%22Cocchi+G%22">Cocchi G</searchLink>; Neonatology Unit, S. Orsola-Malpighi Hospital, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Cuturilo+G%22">Cuturilo G</searchLink>; Faculty of Medicine, University of Belgrade, Belgrade, Serbia.; Department of Medical Genetics, University Children's Hospital, Belgrade, Serbia.<br /><searchLink fieldCode="AU" term="%22Devriendt+K%22">Devriendt K</searchLink>; Center for Human Genetics, Catholic University of Leuven, Leuven, Belgium.<br /><searchLink fieldCode="AU" term="%22Dinulos+MB%22">Dinulos MB</searchLink>; Department of Pediatrics, Dartmouth-Hitchcock Medical Center, Lebanon, New Hampshire, USA.<br /><searchLink fieldCode="AU" term="%22Djuric+O%22">Djuric O</searchLink>; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Epifanio+R%22">Epifanio R</searchLink>; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Faravelli+F%22">Faravelli F</searchLink>; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.<br /><searchLink fieldCode="AU" term="%22Formisano+D%22">Formisano D</searchLink>; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Giordano+L%22">Giordano L</searchLink>; Neurophychiatric Department, Spedali Civili Brescia, Italy.<br /><searchLink fieldCode="AU" term="%22Grasso+M%22">Grasso M</searchLink>; Laboratory of Human Genetics, Galliera Hospital, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Grønborg+S%22">Grønborg S</searchLink>; Center for Rare Diseases, Department of Clinical Genetics, University Hospital Copenhagen, Copenhagen, Denmark.<br /><searchLink fieldCode="AU" term="%22Iodice+A%22">Iodice A</searchLink>; Neuropsychiatric Department, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Iughetti+L%22">Iughetti L</searchLink>; Pediatric Unit, Department of Medical and Surgical Sciences for Mothers, Children and Adults, University of Modena and Reggio Emilia, Modena, Italy.<br /><searchLink fieldCode="AU" term="%22Lacombe+D%22">Lacombe D</searchLink>; Génétique Médicale, CHU, Bordeaux, France.; INSERM U1211, Univ. 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San Pedro, Logrono, Spain.<br /><searchLink fieldCode="AU" term="%22Raviglione+F%22">Raviglione F</searchLink>; Clinical Neurophysiology and Epilepsy Center, Carlo Besta Neurological Institute, IRCCS, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Rivieri+F%22">Rivieri F</searchLink>; Genetics Unit, St Chiara Hospital, Trento, Italy.<br /><searchLink fieldCode="AU" term="%22Russo+C%22">Russo C</searchLink>; Neuroradiology Unit, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy.<br /><searchLink fieldCode="AU" term="%22Savasta+S%22">Savasta S</searchLink>; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Scarano+G%22">Scarano G</searchLink>; Department of Medical Genetics, Gaetano Rummo Hospital,Benevento, Italy.<br /><searchLink fieldCode="AU" term="%22Selicorni+A%22">Selicorni A</searchLink>; Department of Pediatrics, Hospital S. Gerardo, University of Milano-Bicocca, Monza, Italy.; Department of Pediatrics, ASST Lariana, Como, Italy.<br /><searchLink fieldCode="AU" term="%22Silengo+M%22">Silengo M</searchLink>; Department of Paediatrics, University of Torino, Torino, Italy.<br /><searchLink fieldCode="AU" term="%22Sorge+G%22">Sorge G</searchLink>; Department of Pediatrics and Medical sciences, ''Vittorio Emanuele' Hospital, University of Catania, Catania, Italy.<br /><searchLink fieldCode="AU" term="%22Tarani+L%22">Tarani L</searchLink>; Department of Pediatrics, University ''La Sapienza,'' Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Tone+LG%22">Tone LG</searchLink>; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Department of Genetics, Tours University Hospital, Tours, France.<br /><searchLink fieldCode="AU" term="%22Trimouille+A%22">Trimouille A</searchLink>; Génétique Médicale, CHU, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Valera+ET%22">Valera ET</searchLink>; Department of Pediatrics, Ribeirão Preto Medical School, University of São Paulo, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Vergano+SS%22">Vergano SS</searchLink>; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA.; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.<br /><searchLink fieldCode="AU" term="%22Zanotta+N%22">Zanotta N</searchLink>; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Lecco, Italy.<br /><searchLink fieldCode="AU" term="%22Zollino+M%22">Zollino M</searchLink>; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Roma, Italy.<br /><searchLink fieldCode="AU" term="%22Dobyns+WB%22">Dobyns WB</searchLink>; Department of Pediatrics and Department of Neurology, University of Washington, Seattle, Washington, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.<br /><searchLink fieldCode="AU" term="%22Paciorkowski+AR%22">Paciorkowski AR</searchLink>; Department of Pediatrics, University of Rochester Medical Center, Rochester, New York, USA.; Department of Neurology, University of Rochester Medical Center, Rochester, New York, USA.; Department of Biomedical Genetics, University of Rochester Medical Center, Rochester, New York, USA.; Center for Neural Development and Disease, University of Rochester Medical Center, Rochester, New York, USA.
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      – PersonEntity:
          Name:
            NameFull: Russo C
      – PersonEntity:
          Name:
            NameFull: Savasta S
      – PersonEntity:
          Name:
            NameFull: Scarano G
      – PersonEntity:
          Name:
            NameFull: Selicorni A
      – PersonEntity:
          Name:
            NameFull: Silengo M
      – PersonEntity:
          Name:
            NameFull: Sorge G
      – PersonEntity:
          Name:
            NameFull: Tarani L
      – PersonEntity:
          Name:
            NameFull: Tone LG
      – PersonEntity:
          Name:
            NameFull: Toutain A
      – PersonEntity:
          Name:
            NameFull: Trimouille A
      – PersonEntity:
          Name:
            NameFull: Valera ET
      – PersonEntity:
          Name:
            NameFull: Vergano SS
      – PersonEntity:
          Name:
            NameFull: Zanotta N
      – PersonEntity:
          Name:
            NameFull: Zollino M
      – PersonEntity:
          Name:
            NameFull: Dobyns WB
      – PersonEntity:
          Name:
            NameFull: Paciorkowski AR
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 06
              Text: 2017 Jun
              Type: published
              Y: 2017
          Identifiers:
            – Type: issn-electronic
              Value: 1530-0366
          Numbering:
            – Type: volume
              Value: 19
            – Type: issue
              Value: 6
          Titles:
            – TitleFull: Genetics in medicine : official journal of the American College of Medical Genetics
              Type: main
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