换一批Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type i interferon signaling
第一作者：
Rice,G.I.
作者：
Rice,G.I. [1]
;
DelToroDuany,Y. [2]
;
Jenkinson,E.M. [3]
;
Forte,G.M.A. [4]
;
Anderson,B.H. [5]
;
Ariaudo,G. [6]
;
Bader-Meunier,B. [7]
;
Baildam,E.M. [8]
;
Battini,R. [9]
;
Beresford,M.W. [10]
;
Casarano,M. [11]
;
Chouchane,M. [12]
;
Cimaz,R. [13]
;
Collins,A.E. [14]
;
Cordeiro,N.J.V. [15]
;
Dale,R.C. [16]
;
Davidson,J.E. [17]
;
DeWaele,L. [18]
;
Desguerre,I. [19]
;
Faivre,L. [20]
;
Fazzi,E. [21]
;
Isidor,B. [22]
;
Lagae,L. [23]
;
Latchman,A.R. [24]
;
Lebon,P. [25]
;
Li,C. [26]
;
Livingston,J.H. [27]
;
Louren?o,C.M. [28]
;
Mancardi,M.M. [29]
;
Masurel-Paulet,A. [30]
;
McInnes,I.B. [31]
;
Menezes,M.P. [32]
;
Mignot,C. [33]
;
O'Sullivan,J. [34]
;
Orcesi,S. [35]
;
Picco,P.P. [36]
;
Riva,E. [37]
;
Robinson,R.A. [38]
;
Rodriguez,D. ;
Salvatici,E. ;
Scott,C. ;
Szybowska,M. ;
Tolmie,J.L. ;
Vanderver,A. ;
Vanhulle,C. ;
Vieira,J.P. ;
Webb,K. ;
Whitney,R.N. ;
Williams,S.G. ;
Wolfe,L.A. ;
Zuberi,S.M. ;
Hur,S. ;
Crow,Y.J.
作者单位：
Centre de Génétique, H?pital d'Enfants, CHU de Dijon and Université de Bourgogne, Dijon, France
[1]
Neuroimmunology Group, Children's Hospital at Westmead, University of Sydney, Sydney, NSW, Australia
[2]
Université et Faculté de Medecine Paris Descartes, Paris, France
[3]
Manchester Academic Health Science Centre, University of Manchester, Genetic Medicine, Manchester
[4]
Operative Unit Child Neuropsychiatry, Department of Neuroscience, Giannina Gaslini Institute, Genoa
[5]
Service de Néonatalogie et Réanimation, H?pital Charles Nicolle, CHU Rouen, Rouen, France
[6]
Department of Pediatric Neurology, INSERM U768, Imagine Foundation, Paris, France
[7]
Department of Pediatric Neurology, Children's National Medical Center, Washington, DC, United States
[8]
Department of Clinical Genetics, Southern General Hospital, Glasgow, United Kingdom
[9]
Neurology Department. Hospital Dona Estefania, Centro Hospitalar de Lisboa Central, Lisbon, Portugal
[10]
Division of General Pediatrics, Department of Pediatrics, McMaster University, Hamilton, ON, Canada
[11]
Department of Paediatric Neurology, University Hospitals Leuven, Leuven, Belgium
[12]
Child Neurology and Psychiatry Unit, Department of Clinical and Experimental Sciences, University
[13]
Service de Pédiatrie 1, Centre Hospitalier Universitaire (CHU) de Dijon, Dijon, France
[14]
Division of Pediatric Neurology, Department of Pediatrics, University of Colorado School of
[15]
Clinics Hospital of Ribeirao Preto, University of S?o Paulo, S?o Paulo, Brazil
[16]
Clinical Department of Pediatrics, San Paolo Hospital, University of Milan, Milan, Italy
[17]
US National Institutes of Health Undiagnosed Diseases Program, Common Fund, US National Institutes
[18]
Department of Genetics, Groupe Hospitalier Pitié Salpêtrière, AP-HP, Paris, France
[19]
Division of Pediatric Neurology, Department of Pediatrics, McMaster University, Hamilton, ON, Canada
[20]
Department of Paediatrics, Rainbow House NHS Ayrshire and Arran, Irvine, United Kingdom
[21]
Department of Paediatric Rheumatology, Alder Hey Children's National Health Service (NHS
[22]
Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, United Kingdom
[23]
Department of Neurology, Great Ormond Street Hospital for Children, London, United Kingdom
[24]
Department of Pediatrics, Clinical Genetics Program, McMaster University, Hamilton, ON, Canada
[25]
Institute of Infection, Immunity and Inflammation, University of Glasgow, Glasgow, United Kingdom
[26]
Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, University of
[27]
Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, MA
[28]
Department of Pediatric Immunology and Rheumatology, INSERM U768, Imagine Foundation, Paris, France
[29]
Paediatric Rheumatology, Giannina Gaslini Institute, Genoa, Italy
[30]
Child Neurology and Psychiatry Unit, C. Mondino National Neurological Institute, Pavia, Italy
[31]
Department of Paediatric Rheumatology, University of Cape Town, Red Cross War Memorial Children's
[32]
Department of Developmental Neuroscience, Istituto di Ricovero e Cura A Carattere Scientifico
[33]
Department of Pediatrics, Azienda Ospedaliero Universitaria (AOU) Meyer, University of Florence
[34]
Service de Neuropédiatrie, Centre de Référence de Neurogénétique, H?pitaux Universitaire Est
[35]
Service de Génétique Médicale, CHU de Nantes, Nantes, France, INSERM, UMRS 957, Nantes, France
[36]
Department of Paediatric Rheumatology, Royal Hospital for Sick Children, Glasgow, United Kingdom
[37]
Paediatric Neurosciences Research Group, Fraser of Allander Neurosciences Unit, Royal Hospital for
[38]
发布时间
2014-06-29
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Nature Genetics
Nature Genetics
503-509页
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