Resultats globals: 1 registres trobats en 0.01 segons.
Articles, 1 registres trobats
Articles 1 registres trobats  
1.
11 p, 1014.2 KB The broad phenotypic spectrum of PPP2R1A -related neurodevelopmental disorders correlates with the degree of biochemical dysfunction / Lenaerts, Lisa (University of Leuven) ; Reynhout, Sara (KU Leuven Brain Institute (LBI)) ; Verbinnen, Iris (University of Leuven) ; Laumonnier, Frédéric (Centre Hospitalier Régional Universitaire (Tours, França)) ; Toutain, Annick (Centre Hospitalier Régional Universitaire (Tours, França)) ; Bonnet-Brilhault, Frédérique (Centre Hospitalier Régional Universitaire) ; Hoorne, Yana (University of Leuven) ; Joss, Shelagh (Queen Elizabeth University Hospital) ; Chassevent, Anna K. (Kennedy Krieger Institute) ; Smith-Hicks, Constance (Kennedy Krieger Institute) ; Loeys, Bart (University of Antwerp) ; Joset, Pascal (University of Zurich) ; Steindl, Katharina (University of Zurich) ; Rauch, Anita (University of Zurich) ; Mehta, Sarju G. (Addenbrookes Hospital (Cambridge, Regne Unit)) ; Chung, Wendy (Columbia University Medical Center) ; Devriendt, Koenraad (University of Leuven) ; Holder, Susan E. (North West Thames Regional Genetics Service) ; Jewett, Tamison (Wake Forest University) ; Baldwin, Lauren M. (Wake Forest University) ; Wilson, William G. (University of Virginia) ; Towner, Shelley (University of Virginia) ; Srivastava, Siddharth (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Johnson, Hannah F. (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Daumer-Haas, Cornelia (Prenatal Medicine Munich) ; Baethmann, Martina (Klinikum Dritter Orden München) ; Ruiz, Anna (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Gabau, Elisabeth (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ; Jain, Vani (University Hospital of Wales) ; Varghese, Vinod (University Hospital of Wales) ; Al-Beshri, Ali (University of Alabama at Birmingham) ; Fulton, Stephen (Le Bonheur Children's Hospital) ; Wechsberg, Oded (Maccabi Healthcare Services) ; Orenstein, Naama (Tel Aviv University) ; Prescott, Katrina (Leeds Teaching Hospitals NHS Trust) ; Childs, Anne-Marie (Leeds Teaching Hospitals NHS Trust) ; Faivre, Laurence (Université de Bourgogne) ; Moutton, Sébastien (Maison de Santé Bordeaux Bagatelle (Talence, França)) ; Sullivan, Jennifer A. (Duke University Medical Center) ; Shashi, Vandana (Duke University Medical Center) ; Koudijs, Suzanne M. (Maastricht UMC+) ; Heijligers, Malou (Maastricht UMC+) ; Kivuva, Emma (Royal Devon & Exeter NHS Foundation Trust) ; McTague, Amy (Great Ormond Street Hospital for Children (Londres)) ; Male, Alison M. (Great Ormond Street Hospital for Children (Londres)) ; van Ierland, Yvette (Erasmus MC) ; Plecko, Barbara (Medical University of Graz) ; Maystadt, Isabelle (Institut de Pathologie et de Génétique) ; Hamid, Rizwan (Vanderbilt University Medical Center) ; Hannig, Vickie L. (Vanderbilt University Medical Center) ; Houge, Gunnar (Haukeland University Hospital (Bergen, Noruega)) ; Janssens, Veerle (KU Leuven Brain Institute (LBI)) ; Universitat Autònoma de Barcelona
Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by characterizing 30 individuals with de novo and often recurrent variants in this PP2A scaffolding Aα subunit. [...]
2020 - 10.1038/s41436-020-00981-2
Genetics in medicine, Vol. 23 Num. 2 (feb. 2021) , p. 352-362  

Us interessa rebre alertes sobre nous resultats d'aquesta cerca?
Definiu una alerta personal via correu electrònic o subscribiu-vos al canal RSS.