Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care.
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| Title: | Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. |
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| Authors: | Ivanovski I; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, 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., Djuric O; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Institute of Epidemiology, School of Medicine, University of Belgrade, Belgrade, Serbia., Caraffi SG; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Santodirocco D; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Pollazzon M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Rosato S; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Cordelli DM; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Abdalla E; Department of Human Genetics, Medical Research Institute, University of Alexandria, Alexandria, Egypt., Accorsi P; Neuropsychiatric Department, Spedali Civili Brescia, Brescia, Italy., Adam MP; Division of Genetic Medicine, University of Washington School of Medicine, Seattle, Washington, USA., Ajmone PF; Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Badura-Stronka M; Chair and Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Baldo C; Laboratory of Human Genetics; Galliera Hospital, Genoa, Italy., Baldi M; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy., Bayat A; Department of Pediatrics, University Hospital of Copenhagen/Hvidovre, Copenhagen, Denmark.; Department of Clinical Genetics, Rigshospitalet, University Hospital of Copenhagen, Copenhagen, Denmark., Bigoni S; UOL of Medical Genetics, University Hospital of Ferrara, Ferrara, Italy., Bonvicini F; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, 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., De Brasi D; Department of Pediatrics, AORN Santobono Pausilipon, Naples, Italy., 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., Hjortshøj TD; Department of Clinical Genetics, Kennedy Center, Glostrup, Denmark., Epifanio R; Clinical Neurophysiology Unit, IRCCS, E Medea Scientific Institute, Bosisio Parini, Lecco, Italy., Faravelli F; Clinical Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy., Formisano D; Scientific Directorate, Arcispedale Santa Maria Nuova-IRCCS, Reggio Emilia, Italy., Giordano L; Neuropsychiatric Department, Spedali Civili Brescia, 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., Kuburovic V; Department of Cardiology, Mother and Child Health Care Institute, Belgrade, Serbia., Kutkowska-Kazmierczak A; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Lacombe D; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Lo Rizzo C; Medical Genetics, University of Siena, Siena, Italy., Luchetti A; Child Neuropsychiatry Unit, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy., Malbora B; Department of Pediatric Hematology & Oncology, Tepecik Training and Research Hospital, Izmir, Turkey., Mammi I; Medical Genetics Unit, Dolo Hospital, Venice, Italy., Mari F; Medical Genetics, University of Siena, Siena, Italy., Montorsi G; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy.; Faculty of Medicine, University of Modena and Reggio Emilia, Modena, Italy., Moutton S; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, Bordeaux, France., Møller RS; 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., Nielsen JEK; Department of Pediatrics, Zealand University Hospital Roskilde, Roskilde, Denmark., Obersztyn E; Department of Medical Genetics, Institute of the Mother and Child, Warsaw, Poland., Pantaleoni C; Developmental Neurology Department, IRCCS Fondazione Istituto Neurologico 'C. Besta,', Milan, Italy., Pellicciari A; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Pisanti MA; Medical Genetic Unit, AORN Cardarelli, Naples, Italy., Prpic I; Department of Pediatrics-Child Neurology Service, University Hospital Rijeka, Medical Faculty, University of Rijeka, Rijeka, Croatia., Poch-Olive ML; Department of Pediatrics, H. San Pedro, La Rioja, Logrono, Spain., Raviglione F; Child Neuropsychiatry Unit, U.O.N.P.I.A ASST-Rhodense, Rho, Milan, Italy., Renieri A; Medical Genetics, University of Siena, Siena, Italy., Ricci E; Child Neurology and Psychiatry Unit, S Orsola Malpighi Hospital, University of Bologna, Bologna, Italy., Rivieri F; Genetics Unit, St. Chiara Hospital, Trento, Italy., Santen GW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Savasta S; Department of Pediatrics, IRCCS San Matteo, Pavia, Italy., Scarano G; Department of Medical Genetics, Gaetano Rummo Hospital, Benevento, Italy., Schanze I; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., 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 Pediatrics, University of Torino, Torino, Italy., Smigiel R; Department of Genetics, Wroclaw Medical University, Wroclaw, Poland., Spaccini L; Clinical Genetics Unit, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, V. Buzzi Children's Hospital, Universita' degli Studi di Milano, Milan, Italy., Sorge G; Department of Pediatrics and Medical Sciences, 'Vittorio Emanuele' Hospital, University of Catania, Catania, Italy., Szczaluba K; Department of Medical Genetics, Warsaw Medical University, Warsaw, Poland., 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; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.; INSERM U1211, Univ. Bordeaux, 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 Genetics, NE Thames Regional Genetics Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Zenker M; Institute for Human Genetics, University Hospital Magdeburg, Magdeburg, Germany., Conidi A; Department of Cell Biology, Erasmus University Medical Center, Rotterdam, The Netherlands., Zollino M; Institute of Genomic Medicine, Catholic University, Gemelli Hospital Foundation, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Zweier C; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany., Garavelli L; Clinical Genetics Unit, Department of Obstetrics and Pediatrics, AUSL-IRCCS of Reggio Emilia, Reggio Emilia, Italy. livia.garavelli@ausl.re.it. |
| Source: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2018 Sep; Vol. 20 (9), pp. 965-975. Date of Electronic Publication: 2018 Jan 04. |
| 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 |
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