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The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.

Autor: 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.; KU Leuven Brain Institute (LBI), Leuven, Belgium., Verbinnen I; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Laumonnier F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Toutain A; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Bonnet-Brilhault F; UMR1253, iBrain, University of Tours, INSERM, Tours, France.; Excellence Center in Autism and Neurodevelopmental Disorders, Centre Hospitalier Régional Universitaire, Tours, France., Hoorne Y; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Chassevent AK; Kennedy Krieger Institute, Baltimore, MD, USA., Smith-Hicks C; Kennedy Krieger Institute, Baltimore, MD, USA., Loeys B; Center for Medical Genetics, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren, Zurich, Switzerland., Mehta SG; East Anglian Regional Medical Genetics Service, Addenbrookes Hospital, Cambridge, UK., Chung WK; Columbia University Medical Center, New York, NY, USA., Devriendt K; Department of Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium., Holder SE; North West Thames Regional Genetics Service, Harrow, London, UK., Jewett T; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA., Baldwin LM; Wake Forest School of Medicine, Wake Forest University, Winston-Salem, NC, USA., Wilson WG; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Towner S; Department of Pediatrics, University of Virginia, Charlottesville, VA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Johnson HF; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Daumer-Haas C; Prenatal Medicine Munich, Munich, Germany., Baethmann M; Pediatric Neurology, Sozialpädiatrisches Zentrum, Klinikum Dritter Orden München, Munich, Germany., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Jain V; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Varghese V; All Wales Medical Genomics Service, University Hospital of Wales, Cardiff, UK., Al-Beshri A; Internal Medicine & Medical Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Fulton S; Le Bonheur Children's Hospital, Memphis, TN, USA., Wechsberg O; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Maccabi Healthcare Services, Tel Aviv, Israel., Orenstein N; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Prescott K; Yorkshire Regional Genetics Department, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Childs AM; Department of Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Faivre L; Centre de référence Anomalies du Développement et Syndromes malformatifs, FHU TRANSLAD, UMR1231 GAD, CHU Dijon et Université de Bourgogne, Dijon, France., Moutton S; CPDPN, Pôle mère enfant, Maison de Santé Bordeaux Bagatelle, Talence, France., Sullivan JA; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Shashi V; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC, USA., Koudijs SM; Maastricht UMC+, Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht UMC+, Maastricht, The Netherlands., Kivuva E; Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., McTague A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., Male A; Developmental Neurosciences, UCL Great Ormond Street Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital, London, UK., van Ierland Y; Erasmus MC, Department of Clinical Genetics, Rotterdam, The Netherlands., Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, Graz, Austria., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Hamid R; Vanderbilt University Medical Center, Nashville, TN, USA., Hannig VL; Vanderbilt University Medical Center, Nashville, TN, USA., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway. gunnar.houge@helse-bergen.no., Janssens V; Laboratory of Protein Phosphorylation & Proteomics, Department of Cellular & Molecular Medicine, University of Leuven (KU Leuven), Leuven, Belgium. veerle.janssens@kuleuven.be.; KU Leuven Brain Institute (LBI), Leuven, Belgium. veerle.janssens@kuleuven.be.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Feb; Vol. 23 (2), pp. 352-362. Date of Electronic Publication: 2020 Oct 27.