Clinical and molecular phenotype of Aicardi-Goutières syndrome
- Author
- RICE, Gillian1 ; PATRICK, Teresa2 ; BAXTER, Peter9 ; BENKO, Willam S10 ; BERGMANN, Carsten11 ; BERTINI, Enrico12 ; BIANCHERI, Roberta13 ; BLAIR, Edward M14 ; BLAU, Nenad15 ; BONTHRON, David T1 ; BRIGGS, Tracy13 ; BRUETON, Louise A16 ; PARMAR, Rekha1 ; BRUNNER, Han G17 ; BURKE, Christopher J18 ; CARR, Ian M1 ; CARVALHO, Daniel R19 ; CHANDLER, Kate E20 ; CHRISTEN, Hans-Jürgen21 ; CORRY, Peter C22 ; COWAN, Frances M23 ; COX, Helen16 ; D'ARRIGO, Stefano24 ; TAYLOR, Claire F2 3 ; DEAN, John25 ; DE LAET, Corinne; DE PRAETER, Claudine; DERY, Catherine; FERRIE, Colin D; FLINTOFF, Kim2 ; FRINTS, Suzanna G. M; GARCIA-CAZORLA, Angels; GENER, Blanca; GOIZET, Cyril; AEBY, Alec4 ; GOUTIERES, Francoise; GREEN, Andrew J; AICARDI, Jean; ARTUCH, Rafael5 ; MONTALTO, Simon Attard6 ; BACINO, Carlos A7 ; BARROSO, Bruno8
[1] Leeds Institute of Molecular Medicine, St James's University Hospital, United Kingdom
[2] DNA Laboratory, Department of Clinical Genetics, St James's University Hospital, United Kingdom
[3] Cancer Research UK, Mutation Detection Facility, United Kingdom
[4] Department of Paediatric Neurology, Erasme Hospital, United Kingdom
[5] Departments of Clinical Biochemistry, Barcelona, Spain
[6] Department of Pae diatrics, St Luke's Hospital, Guardamangia, Malta
[7] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, United States
[8] Serive de Neurologie, Cen tre Hospitalier, Pau, France
[9] Department of Paediatrics, Children's Hospital, Sheffield, United Kingdom
[10] Developmental and Metabolic Neurology Branch, National Institute of Neuro logical Disorders and Stroke, National Institutes of Health, Bethesda, United States
[11] Department of Human Genetics, Rheinisch-Westfälische Technische Hochschule Aachen University, Aachen, Germany
[12] Unit of Molecular Medicine, Bambino Gesù Children's Research Hospital, United States
[13] Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute, Genova, Italy
[14] Department of Clinical Genetics, Churchill Hospital, Oxford, United Kingdom
[15] Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Zurich, United States
[16] Clinical Ge netics Unit, Birmingham Women's Hospital, United States
[17] Departments of Human Genetics, Radboud University, Nijmegen, Netherlands
[18] Department of Paediatric Neurology, Royal Children's Hospital, Brisbane, Australia
[19] Serviço de Aconselhamento Genético, Universidade Estadual de São Paulo, Botucatu, Brazil
[20] Academic Unit of Medical Genetics, St Mary's Hospital, Manchester, United Kingdom
[21] Kinderkrankenhaus auf der Bult, Hannover, Germany
[22] Department of Paediatrics, Bradford National Health Service (NHS) Trust, Bradford, United Kingdom
[23] Department of Paediatrics and Imaging Sciences, Imperial College, United States
[24] Developmental Neurology Department, Fondazione Istituto Neurologico C. Besta, Milan, Italy
[25] Grampian Clinical Genetics Centre, Aberdeen, United Kingdom - Source
American journal of human genetics. 2007, Vol 81, Num 4, pp 713-725, 13 p ; ref : 31 ref
- Publisher
- University of Chicago Press, Chicago, IL
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Encéphalopathie infantile chronique Aicardi Génétique Homme Phénotype Encéphale pathologie Maladie congénitale Malformation Oeil pathologie Système nerveux central pathologie Système nerveux pathologie
- Keyword (en)
- Aicardi syndrome Genetics Human Phenotype Cerebral disorder Congenital disease Malformation Eye disease Central nervous system disease Nervous system diseases
- Keyword (es)
- Parálisis cerebral infantil crónica Aicardi Genética Hombre Fenotipo Encéfalo patología Enfermedad congénita Malformación Ojo patología Sistema nervosio central patología Sistema nervioso patología
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B23 Medical genetics / 002B23A General aspects. Genetic counseling
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Medical genetics Molecular and cell biology Neurology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 19095060
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1086/521373 
https://dx.doi.org/10.1086/521373
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arXiv access
