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Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Zollino, Marcella; Zweier, Christiane; Van Balkom, Ingrid D; Sweetser, David A; Alaimo, Joseph; Bijlsma, Emilia K; Cody, Jannine; Elsea, Sarah H; Giurgea, Irina; Macchiaiolo, Marina; Smigiel, Robert; Thibert, Ronald L; Benoist, Ingrid; Clayton-Smith, Jill; De Winter, Channa F; Deckers, Stijn; Gandhi, Anusha; Huisman, Sylvia; Kempink, Dagmar; Kruisinga, Frea; Lamacchia, Vittoria; Marangi, Giuseppe; Menke, Leonie; Mulder, Paul; Nordgren, Ann; Renieri, Alessandra; Routledge, Sue; Saunders, Carol J; Stembalska, Agnieszka; Van Balkom, Hans; Whalen, Sandra; Hennekam, Raoul C.
Affiliation
  • Zollino M; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.
  • Zweier C; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy.
  • Van Balkom ID; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Sweetser DA; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.
  • Alaimo J; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands.
  • Bijlsma EK; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts.
  • Cody J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Elsea SH; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
  • Giurgea I; Department of Pediatrics, University of Texas Health Science Center at San Antonio, San Antonio, Texas.
  • Macchiaiolo M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Smigiel R; Sorbonne Université, INSERM, UMR_S 933, Assistance Publique Hôpitaux de Paris, Département de Génétique Médicale, Hôpital Trousseau, Paris, France.
  • Thibert RL; Rare and Genetic Diseases Unit, Bambino Gesù Children's Hospital, Rome, Italy.
  • Benoist I; Department of Pediatrics, Division of Pediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Clayton-Smith J; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts.
  • De Winter CF; Dutch Pitt-Hopkins Syndrome Foundation, Vlaggeschip, Oosterhout, The Netherlands.
  • Deckers S; Manchester Centre for Genomic Medicine, St Mary's Hospital, and Division of Evolution and Genomic Sciences School of Biological Sciences, University of Manchester, Manchester, UK.
  • Gandhi A; Organisation for Individuals with Intellectual Disabilities, Trajectum, Zwolle, The Netherlands.
  • Huisman S; Department of Pedagogical Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands.
  • Kempink D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Kruisinga F; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.
  • Lamacchia V; Department of Orthopedic Surgery, Sophia Children's Hospital, UMCR, Rotterdam, The Netherlands.
  • Marangi G; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.
  • Menke L; Department of Medical Genetics, University of Siena, Siena, Italy.
  • Mulder P; Fondazione Policlinico Universitario A.Gemelli, IRCCS, UOC Genetica.
  • Nordgren A; Università Cattolica Sacro Cuore, Istituto di Medicina Genomica, Roma, Italy.
  • Renieri A; Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.
  • Routledge S; Jonx Department of (Youth) Mental Health and Autism, Lentis Psychiatric Institute, Groningen, The Netherlands.
  • Saunders CJ; Rob Giel Research Centre, Department of Psychiatry, University Medical Center Groningen, Groningen, The Netherlands.
  • Stembalska A; Karolinska Center for Rare Diseases, Karolinska University Hospital, Stockholm, Sweden.
  • Van Balkom H; Department of Medical Genetics, University of Siena, Siena, Italy.
  • Whalen S; Pitt Hopkins UK, Ilford, UK.
  • Hennekam RC; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, Missouri.
Clin Genet ; 95(4): 462-478, 2019 04.
Article in En | MEDLINE | ID: mdl-30677142
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hyperventilation / Intellectual Disability Type of study: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Clin Genet Year: 2019 Document type: Article
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Hyperventilation / Intellectual Disability Type of study: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies Limits: Humans Language: En Journal: Clin Genet Year: 2019 Document type: Article