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795.1 KB Genetic and phenotypic spectrum associated with IFIH1 gain-of-function / Rice, Gillian I. (University of Manchester) ; Park, Sehoon (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Gavazzi, Francesco (Children's Hospital of Philadelphia (Pennsilvània)) ; Adang, Laura A. (Children's Hospital of Philadelphia (Pennsilvània)) ; Ayuk, Loveline A. (Dumfries and Galloway Royal Infirmary) ; Eyck, Lien Van (Institut Imagine (Paris, França)) ; Seabra, Luis (Institut Imagine (Paris, França)) ; Barrea, Christophe (Université de Liège) ; Battini, Roberta (IRCCS Fondazione Stella Maris) ; Belot, Alexandre (Université de Lyon) ; Berg, Stefan (The Queen Silvia Children's Hospital) ; de Villemeur, Thierry Billette (Sorbonne Université) ; Bley, Annette E. (University Children's Hospital) ; Blumkin, Lubov (Tel-Aviv University) ; Boespflug-Tanguy, Odile (Centre de Référence Maladies Rares "Leucodystrophies") ; Briggs, Tracy A. (St Mary's Hospital) ; Brimble, Elise (Stanford University School of Medicine) ; Dale, Russell C.. (University of Sydney) ; Darin, Niklas (The Queen Silvia Children's Hospital) ; Debray, François-Guillaume (Université de Liège) ; De Giorgis, Valentina (IRCCS Mondino Foundation) ; Denecke, Jonas (University Medical Center Hamburg Eppendorf) ; Doummar, Diane (Hôpital Armand Trousseau (París, França)) ; Hagelsrum, Gunilla Drake af (PeThe Queen Silvia Children's Hospital) ; Eleftheriou, Despina (University College London (UCL)) ; Estienne, Margherita (Istituto Neurologico Carlo Besta) ; Fazzi, Elisa (University of Brescia. Department of Experimental and Clinical Sciences) ; Feillet, François (Centre de Référence des maladies métaboliques de Nancy (França)) ; Galli, Jessica (University of Brescia. Department of Experimental and Clinical Sciences) ; Hartog, Nicholas (Michigan State University College of Human Medicine) ; Harvengt, Julie (University of Liège. Department of Medical Genetics) ; Heron, Bénédicte (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Heron, Delphine (Groupe Hospitalier Pitié-Salpêtrière (París, França). UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles) ; Kelly, Diedre A. (Birmingham Women's and Children's Hospital (Regne Unit)) ; Lev, Dorit (The Rina Mor Institute of Medical Genetics (Holon, Israel)) ; Levrat, Virginie (Centre Hospitalier Annecy Genevois (Pringy, França)) ; Livingston, John H. (Leeds General Infirmary (Leeds, Regne Unit)) ; Marti, Itxaso (Hospital Universitario de Donostia (Sant Sebastià, País Basc)) ; Mignot, Cyril (GH Pitié-Sapêtrière (París, França). Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare) ; Mochel, Fanny (Sorbonne Universités. Institut du Cerveau et de la Moelle épinière) ; Nougues, Marie-Christine (Hôpital Armand Trousseau (París, França)) ; Oppermann, Ilena (University Medical Center Hamburg Eppendorf) ; Pérez-Dueñas, Belén (Hospital Universitari Vall d'Hebron. Institut de Recerca) ; Popp, Bernt (Friedrich-Alexander-Universität Erlangen-Nürnberg. Institute of Human Genetics) ; Rodero, Mathieu P. (Institut Imagine (París, França). Laboratory of Neurogenetics and Neuroinflammation) ; Rodriguez, Diana (Hôpital Trousseau (París, França). Centre Référence des Maladies Lysosomales) ; Saletti, Veronica (Fondazione IRCCS Istituto Neurologico Carlo Besta (Milà, Itàlia)) ; Sharpe, Cia (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Tonduti, Davide (V. Buzzi Children's Hospital (Milà, Itàlia)) ; Vadlamani, Gayatri (Leeds General Infirmary (Leeds, Regne Unit)) ; Haren, Keith Van (Stanford University School of Medicine. Department of Neurology) ; Vila, Miguel Tomas (Hospital Universitari i Politècnic La Fe (València)) ; Vogt, Julie (West Midlands Regional Clinical Genetics Service (Regne Unit)) ; Wassmer, Evangeline (Birmingham Women's and Children's Hospital (Regne Unit)) ; Wiedemann, Arnaud (Centre de Référence des maladies métaboliques de Nancy (França)) ; Wilson, Callum J. (Starship Children's Hospital (Auckland, Nova Zelanda)) ; Zerem, Ayelet (Tel-Aviv Universitym. Sackler Faculty of Medicine) ; Zweier, Christiane (Friedrich-Alexander-Universität Erlangen-Nürnberg) ; Zuberi, Sameer M. (University of Glasgow. School of Medicine) ; Orcesi, Simona (University of Pavia. Department of Brain and Behavioural Sciences) ; Vanderver, Adeline L. (Children's Hospital of Philadelphia (Pennsilvània)) ; Hur, Sun (Boston Children's Hospital (Boston, Estats Units d'Amèrica)) ; Crow, Yanick J. (University of Edinburgh. Institute of Genetics and Molecular Medicine) ; Universitat Autònoma de Barcelona
IFIH1 gain-of-function has been reported as a cause of a type I interferonopathy encompassing a spectrum of autoinflammatory phenotypes including Aicardi-Goutières syndrome and Singleton Merten syndrome. [...]
2020 - 10.1002/humu.23975
Human mutation, Vol. 41 (january 2020) , p. 837-849  

Vegeu també: autors amb noms similars
1 Wilson, C. W.
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