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Genetic and phenotypic spectrum associated with IFIH1 gain-of-function.
Rice, Gillian I; Park, Sehoon; Gavazzi, Francesco; Adang, Laura A; Ayuk, Loveline A; Van Eyck, Lien; Seabra, Luis; Barrea, Christophe; Battini, Roberta; Belot, Alexandre; Berg, Stefan; Billette de Villemeur, Thierry; Bley, Annette E; Blumkin, Lubov; Boespflug-Tanguy, Odile; Briggs, Tracy A; Brimble, Elise; Dale, Russell C; Darin, Niklas; Debray, François-Guillaume; De Giorgis, Valentina; Denecke, Jonas; Doummar, Diane; Drake Af Hagelsrum, Gunilla; Eleftheriou, Despina; Estienne, Margherita; Fazzi, Elisa; Feillet, François; Galli, Jessica; Hartog, Nicholas; Harvengt, Julie; Heron, Bénédicte; Heron, Delphine; Kelly, Diedre A; Lev, Dorit; Levrat, Virginie; Livingston, John H; Marti, Itxaso; Mignot, Cyril; Mochel, Fanny; Nougues, Marie-Christine; Oppermann, Ilena; Pérez-Dueñas, Belén; Popp, Bernt; Rodero, Mathieu P; Rodriguez, Diana; Saletti, Veronica; Sharpe, Cia; Tonduti, Davide; Vadlamani, Gayatri.
Afiliación
  • Rice GI; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.
  • Park S; Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts.
  • Gavazzi F; Program in Cellular and Molecular Medicine, Boston Children's Hospital, Boston, Massachusetts.
  • Adang LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Ayuk LA; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
  • Van Eyck L; Paediatric Department, Dumfries and Galloway Royal Infirmary, Cargenbridge, United Kingdom.
  • Seabra L; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
  • Barrea C; Laboratory of Neurogenetics and Neuroinflammation, Institut Imagine, Paris, France.
  • Battini R; Department of Neuropaediatrics, CHU & University of Liège, Liege, Belgium.
  • Belot A; Department Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
  • Berg S; IRCCS Fondazione Stella Maris, Pisa, Italy.
  • Billette de Villemeur T; Université de Lyon, INSERM U1111, CIRI, Lyon, France.
  • Bley AE; Centre International de Recherche en Infectiologie, CIRI, Inserm, U1111, École Normale Supérieure de Lyon, Université Claude Bernard Lyon 1, Université de Lyon, Lyon, France.
  • Blumkin L; Pediatric Immunology and Rheumatology, The Queen Silvia Children's Hospital, Goteborg, Sweden.
  • Boespflug-Tanguy O; Neuropédiatrie, Centre de référence Neurogénétique, Hôpital Trousseau, Sorbonne Université, Paris, France.
  • Briggs TA; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Brimble E; Pediatric Neurology Unit, Metabolic Neurogenetic Service, Wolfson Medical Center, Holon, Israel.
  • Dale RC; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Darin N; Génétique Médicale, Université Paris Diderot, Paris, France.
  • Debray FG; Service de Neuropédiatrie et des Maladies Métaboliques, Centre de Référence Maladies Rares "Leucodystrophies", Hopital Robert Debré, Paris, France.
  • De Giorgis V; Division of Evolution and Genomic Sciences, Faculty of Biology, Medicine and Health, School of Biological Sciences, Manchester Academic Health Science Centre, University of Manchester, Manchester, United Kingdom.
  • Denecke J; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, United Kingdom.
  • Doummar D; Department of Neurology, Stanford University School of Medicine, Stanford, California.
  • Drake Af Hagelsrum G; Faculty of Medicine and Health, Kids Neuroscience Centre, Brain and Mind Centre, Children's Hospital at Westmead, University of Sydney, Sydney, Australia.
  • Eleftheriou D; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska University Hospital, University of Gothenburg, Gothenburg, Sweden.
  • Estienne M; The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Gothenburg, Sweden.
  • Fazzi E; Metabolic Unit, Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium.
  • Feillet F; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy.
  • Galli J; University Children's Hospital, University Medical Center Hamburg Eppendorf, Hamburg, Germany.
  • Hartog N; GHUEP, département de neuropédiatrie, Centre de référence neurogénétique mouvement anormaux de l'enfant, Hôpital Armand Trousseau, Paris, France.
  • Harvengt J; Pediatric Neurology, The Queen Silvia Children's Hospital, Goteborg, Sweden.
  • Heron B; Paediatric Rheumatology, ARUK Centre for Adolescent Rheumatology, Institute of Child Health, University College London (UCL) Great Ormond Street Hospital, London, United Kingdom.
  • Heron D; U.O. Neuropsichiatria Infantile, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.
  • Kelly DA; Unit of Child Neurology and Psichiatry, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Lev D; Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy.
  • Levrat V; Service de Médecine Infantile, Centre de Référence des maladies métaboliques de Nancy, CHU Brabois Enfants, Unité INSERM NGERE U1256, Nancy, France.
  • Livingston JH; Unit of Child Neurology and Psichiatry, ASST Spedali Civili of Brescia, Brescia, Italy.
  • Marti I; Department of Experimental and Clinical Sciences, University of Brescia, Brescia, Italy.
  • Mignot C; Department of Allergy/Immunology, Spectrum Health Helen Devos Children's Hospital, Michigan State University College of Human Medicine, East Lansing, Michigan.
  • Mochel F; Department of Medical Genetics, CHU & University of Liège, Gembloux, Belgium.
  • Nougues MC; Service de Neuropédiatrie, Centre Référence des Maladies Lysosomales, Hôpital Trousseau, Paris, France.
  • Oppermann I; UF Génétique Médicale et Centre de Référence "Déficiences Intellectuelles", Groupe Hospitalier Pitié-Salpêtrière, Paris, France.
  • Pérez-Dueñas B; The Liver Unit, Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, United Kingdom.
  • Popp B; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • Rodero MP; Metabolic Neurogenetic Service, Wolfson Medical Center, The Rina Mor Institute of Medical Genetics, Holon, Israel.
  • Rodriguez D; Service de pédiatrie, Centre Hospitalier Annecy Genevois, Pringy, France.
  • Saletti V; Department of Paediatric Neurology, Leeds General Infirmary, Leeds, United Kingdom.
  • Sharpe C; Pediatric Neurology, Hospital Universitario Donostia, Universidad del País Vasco UPV-EHU, San Sebastian, Spain.
  • Tonduti D; Departement de Génétique & Centre de Référence Déficience Intellectuelle de cause rare, GH Pitié-Sapêtrière, Paris, France.
  • Vadlamani G; Institut du Cerveau et de la Moelle épinière, INSERM U 1127, Sorbonne Universités, Paris, France.
Hum Mutat ; 41(4): 837-849, 2020 04.
Article en En | MEDLINE | ID: mdl-31898846
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Estudios de Asociación Genética / Helicasa Inducida por Interferón IFIH1 / Mutación con Ganancia de Función / Genotipo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Fenotipo / Estudios de Asociación Genética / Helicasa Inducida por Interferón IFIH1 / Mutación con Ganancia de Función / Genotipo Tipo de estudio: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Límite: Female / Humans / Male Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2020 Tipo del documento: Article País de afiliación: Reino Unido