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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.
Muir, Alison M; Gardner, Jennifer F; van Jaarsveld, Richard H; de Lange, Iris M; van der Smagt, Jasper J; Wilson, Golder N; Dubbs, Holly; Goldberg, Ethan M; Zitano, Lia; Bupp, Caleb; Martinez, Jose; Srour, Myriam; Accogli, Andrea; Alhakeem, Afnan; Meltzer, Meira; Gropman, Andrea; Brewer, Carole; Caswell, Richard C; Montgomery, Tara; McKenna, Caoimhe; McKee, Shane; Powell, Corinna; Vasudevan, Pradeep C; Brady, Angela F; Joss, Shelagh; Tysoe, Carolyn; Noh, Grace; Tarnopolsky, Mark; Brady, Lauren; Zafar, Muhammad; Schrier Vergano, Samantha A; Murray, Brianna; Sawyer, Lindsey; Hainline, Bryan E; Sapp, Katherine; DeMarzo, Danielle; Huismann, Darcy J; Wentzensen, Ingrid M; Schnur, Rhonda E; Monaghan, Kristin G; Juusola, Jane; Rhodes, Lindsay; Dobyns, William B; Lecoquierre, Francois; Goldenberg, Alice; Polster, Tilman; Axer-Schaefer, Susanne; Platzer, Konrad; Klöckner, Chiara; Hoffman, Trevor L.
Afiliação
  • Muir AM; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
  • Gardner JF; All Wales Medical Genomics Service, Cardiff, United Kingdom.
  • van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • de Lange IM; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • van der Smagt JJ; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Wilson GN; Texas Tech Health Science Center, Lubbock and KinderGenome Medical Genetics, Dallas, TX, USA.
  • Dubbs H; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Goldberg EM; Department of Pediatrics, Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Zitano L; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Bupp C; Spectrum Health Medical Genetics, Grand Rapids, MI, USA.
  • Martinez J; Department of Pediatrics and Adolescent Medicine, Division of Genetics, University of South Alabama, Mobile, AL, USA.
  • Srour M; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
  • Accogli A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
  • Alhakeem A; Department of Pediatrics, Montreal Children's Hospital, McGill University Health Centre, Montreal, QC, USA.
  • Meltzer M; Department of Neurology, Children's National Hospital, Washington, DC, USA.
  • Gropman A; Department of Neurology, Children's National Hospital, Washington, DC, USA.
  • Brewer C; Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Caswell RC; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.
  • Montgomery T; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK.
  • McKenna C; Newcastle upon Tyne Hospitals NHS Foundation Trust, Washington, USA.
  • McKee S; Northern Ireland Regional Genetics Service, Exeter, UK.
  • Powell C; Northern Ireland Regional Genetics Service, Exeter, UK.
  • Vasudevan PC; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK.
  • Brady AF; University Hospitals of Leicester NHS Trust Leicester Royal Infirmary Leicester, Exeter, UK.
  • Joss S; North West Thames Regional Genetics Service, Northwick Park and St. Mark's Hospitals, Harrow, UK.
  • Tysoe C; NHS Greater Glasgow and Clyde, Scotland, UK.
  • Noh G; Royal Devon and Exeter NHS Foundation Trust, Scotland, UK.
  • Tarnopolsky M; Department of Genetics, Southern California Kaiser Permanente Medical Group, Pasadena, CA, USA.
  • Brady L; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada.
  • Zafar M; Department of Pediatrics, Division of Neuromuscular and Neurometabolic Disorders, McMaster Children's Hospital, Hamilton, ON, Canada.
  • Schrier Vergano SA; Duke University Health System, Durham, NC, USA.
  • Murray B; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Sawyer L; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Hainline BE; Children's Hospital of The King's Daughters, Norfolk, Virginia, USA.
  • Sapp K; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • DeMarzo D; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA.
  • Huismann DJ; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
  • Wentzensen IM; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.
  • Schnur RE; GeneDx, Inc, Gaithersburg, MD, USA.
  • Monaghan KG; GeneDx, Inc, Gaithersburg, MD, USA.
  • Juusola J; GeneDx, Inc, Gaithersburg, MD, USA.
  • Rhodes L; GeneDx, Inc, Gaithersburg, MD, USA.
  • Dobyns WB; GeneDx, Inc, Gaithersburg, MD, USA.
  • Lecoquierre F; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, WA, USA.
  • Goldenberg A; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA, USA.
  • Polster T; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Axer-Schaefer S; Department of Genetics and Reference Center for Developmental Disorders, Normandy Center for Genomic and Personalized Medicine, Normandie Univ, UNIROUEN, Inserm U1245 and Rouen University Hospital, Rouen, France.
  • Platzer K; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany.
  • Klöckner C; Paediatric Epileptology Krankenhaus Mara Bethel Epilepsy Centre Bielefeld, Bielefeld, Germany.
  • Hoffman TL; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Genet Med ; 23(5): 881-887, 2021 05.
Article em En | MEDLINE | ID: mdl-33473207
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos
Texto completo
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XML
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Child / Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Estados Unidos