Schwannomatosis associated with multiple meningiomas due to a familial SMARCB1 mutation
- Author
- BACCI, Costanza1 ; SESTINI, Roberta1 ; PROVENZANO, Aldesia1 ; PAGANINI, Irene1 ; MANCINI, Irene1 ; PORFIRIO, Berardino1 ; VIVARELLI, Rossella2 ; GENUARDI, Maurizio1 3 ; PAPI, Laura1
[1] Medical Genetics Unit, Department of Clinical Physiopathology, University of Florence, Florence, Italy
[2] Dipartimento di Pediatria, Ostetricia e Medicina della Riproduzione, Sezione di Pediatria, University of Siena, Siena, Italy
[3] Fiorgen Foundation for Pharmacogenomics, Sesto Fiorentino, Italy - Source
Neurogenetics (Oxford. Print). 2010, Vol 11, Num 1, pp 73-80, 8 p ; ref : 36 ref
- Publisher
- Springer, Heidelberg
- Publication country
- Germany
- Document type
- Article
- Language
- English
- Author keyword
- Multiple meningiomas SMARCB 1 mutation Schwannomatosis
- Keyword (fr)
- Etude familiale Génétique Multiple Mutation Méningiome Neurologie Pathologie du système nerveux Tumeur bénigne
- Keyword (en)
- Family study Genetics Multiple Mutation Meningioma Neurology Nervous system diseases Benign neoplasm
- Keyword (es)
- Estudio familiar Genética Múltiple Mutación Meningioma Neurología Sistema nervioso patología Tumor benigno
- 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 / 002A Fundamental and applied biological sciences. Psychology / 002A25 Vertebrates: nervous system and sense organs
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17E Tumors of the nervous system. Phacomatoses
- Discipline
- Eukaryotes genetics. Biological and molecular evolution Molecular and cell biology Neurology Vertebrates : nervous system and sense organs
- Origin
- Inist-CNRS
- Database
- PASCAL
- INIST identifier
- 22341188
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
10.1007/s10048-009-0204-2 
https://dx.doi.org/10.1007/s10048-009-0204-2
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