Your browser doesn't support javascript.
loading
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder.
Rots, Dmitrijs; Jakub, Taryn E; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B A; van Jaarsveld, Richard H; Hopman, Saskia M J; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J; Stevenson, Roger E; Everman, David B; Patterson, Wesley G; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B; Almeida, Pedro M; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J; Garavelli, Livia; Caraffi, Stefano G; Peluso, Francesca; Davis-Keppen, Laura.
Afiliación
  • Rots D; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
  • Jakub TE; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
  • Keung C; Dalhousie University, Department of Biochemistry and Molecular Biology, Faculty of Medicine, Halifax, NS, Canada.
  • Jackson A; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
  • Banka S; Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manches
  • Pfundt R; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
  • de Vries BBA; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
  • van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands.
  • Valenzuela I; Hospital Universitari Vall D'Hebron, Clinical and Molecular Genetics Unit, Barcelona, Catalonia, Spain.
  • Hempel M; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bierhals T; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Kortüm F; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Lecoquierre F; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
  • Goldenberg A; University Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, 76000 Rouen, France.
  • Hertz JM; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark; University of Southern Denmark, Department of Clinical Research, Odense, Denmark.
  • Andersen CB; Odense University Hospital, Department of Clinical Genetics, Odense, Denmark.
  • Kibæk M; Department of Pediatrics, Odense University Hospital, Odense, Denmark.
  • Prijoles EJ; Greenwood Genetic Center, Greenwood, SC, USA.
  • Stevenson RE; Greenwood Genetic Center, Greenwood, SC, USA.
  • Everman DB; Greenwood Genetic Center, Greenwood, SC, USA.
  • Patterson WG; Greenwood Genetic Center, Greenwood, SC, USA.
  • Meng L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
  • Gijavanekar C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratories, Houston, TX 77021, USA.
  • De Dios K; Division of Medical Genetics, Dayton Children's Hospital, Dayton, OH, USA.
  • Lakhani S; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
  • Levy T; Center for Neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, USA.
  • Wagner M; Institute of Human Genetics, School of Medicine, Technical University Munich, Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany; Division of Pediatric Neurology, Department of Pediatrics, Dr. von Hauner Children's Hospital, LMU University Hospital, Munich, G
  • Wieczorek D; Institute of Human Genetics, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany.
  • Benke PJ; Division of Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
  • Lopez Garcia MS; Hospital Universitario Donostia, San Sebastián, Spain.
  • Perrier R; Department of Medical Genetics, Alberta Children's Hospital and Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.
  • Sousa SB; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Almeida PM; Medical Genetics Unit, Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
  • Simões MJ; CBR Genomics, Cantanhede, Portugal; Genoinseq, Next-Generation Sequencing Unit, Biocant, Cantanhede, Portugal.
  • Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France.
  • Schmanski AA; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
  • Abdul-Rahman O; Department of Genetic Medicine, Munroe-Meyer Institute, University of Nebraska Medical Center, Omaha, NE, USA.
  • Philippe C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Bruel AL; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Faivre L; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Maladies Rares "Anomalies du développement et syndromes malformatifs", Centre de Génétique, FHU-TRANSLAD et Institut GIMI, CHU Dijon Bourgogne, Dijon, France.
  • Vitobello A; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France.
  • Thauvin C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, F
  • Smits JJ; Radboudumc, Department of Human Genetics, Nijmegen, the Netherlands.
  • Garavelli L; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Caraffi SG; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Peluso F; Medical Genetics Unit, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy.
  • Davis-Keppen L; University of South Dakota Sanford School of Medicine and Sanford Children's Hospital, Sioux Falls, SD, USA.
Am J Hum Genet ; 110(6): 963-978, 2023 06 01.
Article en En | MEDLINE | ID: mdl-37196654
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Trastornos del Neurodesarrollo / Discapacidad Intelectual Límite: Animals / Humans Idioma: En Revista: Am J Hum Genet Año: 2023 Tipo del documento: Article País de afiliación: Países Bajos