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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frédéric; Toutain, Annick; Bonnet-Brilhault, Frédérique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna K; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju G; Chung, Wendy K; Devriendt, Koenraad; Holder, Susan E; Jewett, Tamison; Baldwin, Lauren M; Wilson, William G; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah F; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sébastien; Sullivan, Jennifer A; Shashi, Vandana; Koudijs, Suzanne M; Heijligers, Malou; Kivuva, Emma; McTague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie L.
Affiliation
  • Lenaerts L; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Reynhout S; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Verbinnen I; KU Leuven Brain Institute (LBI), Leuven, Belgium.
  • Laumonnier F; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Toutain A; UMR1253, iBrain, University of Tours, INSERM, Tours, France.
  • Bonnet-Brilhault F; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.
  • Hoorne Y; UMR1253, iBrain, University of Tours, INSERM, Tours, France.
  • Joss S; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.
  • Chassevent AK; UMR1253, iBrain, University of Tours, INSERM, Tours, France.
  • Smith-Hicks C; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France.
  • Loeys B; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium.
  • Joset P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.
  • Steindl K; Kennedy Krieger Institute, Baltimore, MD, USA.
  • Rauch A; Kennedy Krieger Institute, Baltimore, MD, USA.
  • Mehta SG; Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium.
  • Chung WK; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Devriendt K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Holder SE; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland.
  • Jewett T; East Anglian Regional Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK.
  • Baldwin LM; Columbia University Medical Center, New York, NY, USA.
  • Wilson WG; Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium.
  • Towner S; North West Thames Regional Genetics Service, Harrow, London, UK.
  • Srivastava S; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA.
  • Johnson HF; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA.
  • Daumer-Haas C; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.
  • Baethmann M; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA.
  • Ruiz A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Gabau E; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
  • Jain V; Prenatal Medicine Munich, Munich, Germany.
  • Varghese V; Pediatric Neurology, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München, Munich, Germany.
  • Al-Beshri A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
  • Fulton S; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.
  • Wechsberg O; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.
  • Orenstein N; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK.
  • Prescott K; Internal Medicine & Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.
  • Childs AM; Le Bonheur Children's Hospital, Memphis, TN, USA.
  • Faivre L; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Moutton S; Maccabi Healthcare Services, Tel Aviv, Israel.
  • Sullivan JA; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
  • Shashi V; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
  • Koudijs SM; Yorkshire Regional Genetics Department, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Heijligers M; Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.
  • Kivuva E; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU TRANSLAD, UMR1231 GAD, CHU Dijon et Université de Bourgogne, Dijon, France.
  • McTague A; CPDPN, Pôle mère enfant, Maison de Santé Bordeaux Bagatelle, Talence, France.
  • Male A; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • van Ierland Y; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA.
  • Plecko B; Maastricht UMC+, Maastricht, The Netherlands.
  • Maystadt I; Department of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands.
  • Hamid R; Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Hannig VL; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.
Genet Med ; 23(2): 352-362, 2021 02.
Article in En | MEDLINE | ID: mdl-33106617
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Belgium
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neurodevelopmental Disorders / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Humans Language: En Journal: Genet Med Journal subject: GENETICA MEDICA Year: 2021 Type: Article Affiliation country: Belgium