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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden, Geeske M; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L; Gripp, Karen W; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna; Kalsner, Louisa; Sorlin, Arthur; Bruel, Ange-Line; Koolen, David A; Gabriel, Melissa K; Rossi, Mari; Fitzpatrick, David R; Wilkie, Andrew O M; Calpena, Eduardo; Johnson, David; Brooks, Alice; van Slegtenhorst, Marjon; Fleischer, Julie; Groepper, Daniel; Lindstrom, Kristin; Innes, A Micheil; Goodwin, Allison; Humberson, Jennifer; Noyes, Amanda; Langley, Katherine G; Telegrafi, Aida; Blevins, Amy; Hoffman, Jessica; Guillen Sacoto, Maria J; Juusola, Jane; Monaghan, Kristin G; Punj, Sumit; Simon, Marleen; Pfundt, Rolph; Elgersma, Ype; Kleefstra, Tjitske.
Afiliação
  • van Woerden GM; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Bos M; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
  • de Konink C; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Distel B; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Avagliano Trezza R; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Shur NE; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Barañano K; The ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands.
  • Mahida S; Department of Medical Biochemistry, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands.
  • Chassevent A; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Schreiber A; Division of Genetics and Metabolism, Rare Disease Institute, Children's National Medical Center, Washington, District of Columbia, USA.
  • Erwin AL; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Gripp KW; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Rehman F; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland, USA.
  • Brulleman S; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • McCormack R; Genomic Medicine Institute, Cleveland Clinic, Cleveland, Ohio, USA.
  • de Geus G; Division of Medical Genetics, Nemours/A.I. duPont Hospital for Children, Wilmington, Delaware, USA.
  • Kalsner L; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Sorlin A; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Bruel AL; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Koolen DA; Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands.
  • Gabriel MK; Departments of Neurology and Pediatrics, Connecticut Children's Medical Center and University of Connecticut School of Medicine, Farmington, Connecticut, USA.
  • Rossi M; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Fitzpatrick DR; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Wilkie AOM; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs¼, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Calpena E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France.
  • Johnson D; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • Brooks A; Centre de Référence maladies rares «Anomalies du Développement et syndromes malformatifs¼, Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
  • van Slegtenhorst M; Department of Human Genetics, Radboud University Medical Center, Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
  • Fleischer J; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.
  • Groepper D; Department of Clinical Diagnostics, Ambry Genetics, Aliso Viejo, California, USA.
  • Lindstrom K; MRC Human Genetics Unit, MRC IGMM, University of Edinburgh, Edinburgh, UK.
  • Innes AM; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Goodwin A; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
  • Humberson J; Clinical Genetics Group, MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
  • Noyes A; Oxford Craniofacial Unit, Oxford University Hospital NHS Foundation Trust, John Radcliffe Hospital, Oxford, UK.
  • Langley KG; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Telegrafi A; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.
  • Blevins A; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA.
  • Hoffman J; Department of Pediatrics, SIU School of Medicine, Springfield, Illinois, USA.
  • Guillen Sacoto MJ; Division of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, Arizona, USA.
  • Juusola J; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.
  • Monaghan KG; VCU Medical Center, Clinical Genetics Services, Richmond, Virginia, USA.
  • Punj S; Division of Pediatric Genetics, Department of Pediatrics, University of Virginia Medical Center, Charlottesville, Virginia, USA.
  • Simon M; GeneDx, Gaithersburg, Maryland, USA.
  • Pfundt R; GeneDx, Gaithersburg, Maryland, USA.
  • Elgersma Y; GeneDx, Gaithersburg, Maryland, USA.
  • Kleefstra T; GeneDx, Gaithersburg, Maryland, USA.
Hum Mutat ; 42(4): 445-459, 2021 04.
Article em En | MEDLINE | ID: mdl-33565190
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Hum Mutat Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Holanda