Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
- Author
- AMARY, M. Fernanda1 ; DAMATO, Stephen1 ; ASTON, Will6 ; GREEN, Claire L7 ; GALE, Rosemary E7 ; TIRABOSCO, Roberto1 ; FUTREAL, Andrew8 ; CAMPBELL, Peter8 ; PRESNEAU, Nadege2 ; FLANAGAN, Adrienne M1 2 ; HALAI, Dina1 ; ESKANDARPOUR, Malihe2 ; BERISHA, Fitim1 ; BONAR, Fiona3 ; MCCARTHY, Stan4 ; FANTIN, Valeria R5 ; STRALEY, Kimberly S5 ; LOBO, Samira1
[1] Histopathology Unit, Royal National Orthopaedic Hospital National Health Service Trust, Stanmore, United Kingdom
[2] Sarcoma Genetics, University College London Cancer Institute, London, United Kingdom
[3] Douglass Hanly Moir Pathology, Sydney, Australia
[4] School of Medicine, The University of Sydney, Sydney, Australia
[5] Agios Pharmaceuticals, Cambridge, Massachusetts, United States
[6] Bone Tumour Unit, Royal National Orthopaedic Hospital National Health Service Trust, Stanmore, United Kingdom
[7] Experimental Therapeutics, University College London Cancer Institute, London, United Kingdom
[8] Wellcome Trust Sanger Institute, Hinxton, Cambridge, United Kingdom - Source
Nature genetics. 2011, Vol 43, Num 12, pp 1262-1265, 4 p ; ref : 11 ref
- Publisher
- Nature Publishing Group, New York, NY
- Publication country
- United States
- Document type
- Article
- Language
- English
- Keyword (fr)
- Angiochondromatose de Maffucci Angiome Mutation somatique Maladie congénitale Ostéochondrodysplasie Pathologie de l'appareil circulatoire Pathologie de la peau Pathologie des vaisseaux sanguins Pathologie du système ostéoarticulaire Tumeur
- Keyword (en)
- Syndrome de Maffucci Angioma Somatic mutation Congenital disease Osteochondrodysplasia Cardiovascular disease Skin disease Vascular disease Diseases of the osteoarticular system Tumor
- Keyword (es)
- Angiocondromatosis Maffucci Angioma Mutación somática Enfermedad congénita Osteocondrodisplasia Aparato circulatorio patología Piel patología Vaso sanguíneo patología Sistema osteoarticular patología Tumor
- Classification
- Pascal
- 002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A04 Molecular and cellular biology / 002A04H Cell physiology / 002A04H04 Cell transformation and carcinogenesis. Action of oncogenes and antioncogenes
- 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 / 002B15 Diseases of the osteoarticular system / 002B15H Malformations and congenital and or hereditary diseases involving bones. Joint deformations
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Osteoarticular pathology
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 25285519
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
10.1038/ng.994 
https://dx.doi.org/10.1038/ng.994
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