Neurofibromatosis type 1 & related disorders (Contributo in volume (capitolo o saggio))

Type
Label
  • Neurofibromatosis type 1 & related disorders (Contributo in volume (capitolo o saggio)) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/978-3-211-69500-5_3 (literal)
Alternative label
  • Martino Ruggieri; Meena Upadhyaya; Concezio Di Rocco; Annalia Gabriele and Ignacio Pascual-Castroviejo (2008)
    Neurofibromatosis type 1 & related disorders
    in Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes, 2008
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Martino Ruggieri; Meena Upadhyaya; Concezio Di Rocco; Annalia Gabriele and Ignacio Pascual-Castroviejo (literal)
Pagina inizio
  • 51 (literal)
Pagina fine
  • 151 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#citta
  • New York (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.springerlink.com/content/k32024kg8052q50k/fulltext.pdf (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#titoloVolume
  • Neurocutaneous Disorders Phakomatoses and Hamartoneoplastic Syndromes (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 101 (literal)
Note
  • Google Scholar (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Science, National Research Council, Catania, and Department of Paediatrics, University of Catania, Italy (MR); Institute of Medical Genetics, University of Wales College of Medicine, Cardiff, United Kingdom (MU); Section of Paediatric Neurosurgery, Department of Paediatrics, Catholic University of Sacred Heart, Rome, Italy (CDR); Molecular Genetics Unit, Institute of Neurological Science, National Research Council, Cosenza, Italy (AG); Paediatric Neurology Service, University Hospital La Paz, Madrid, Spain (IPC) (literal)
Titolo
  • Neurofibromatosis type 1 & related disorders (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#isbn
  • 978-3-211-21396-4 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autoriVolume
  • Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#curatoriVolume
  • Martino Ruggieri, Ignacio Pascual-Castroviejo, Concezio Di Rocco (literal)
Abstract
  • The last decades have seen major developments in our knowledge of the different forms of neurofibromatosis (Ferner 2007a, b; Ferner et al. 2007; Friedman et al. 1999; Huson and Hughes 1994; Korf and Rubenstein 2005; North 1997; Ruggieri 2007; Upadhyaya and Cooper 1998a). Evidence based clinical diagnostic criteria and management guidelines have been developed (Baser et al. 2002; Ferner et al. 2007; Gutman et al. 1997; Listernick et al. 1997; Listernick and Charrow 2004a, b; North et al. 1997; Maria 2002; Ruggieri 1999; Wolkenstein et al. 1996). The genes for the two major forms, neurofibromatosis type 1 (NF1) and type 2 (NF2), have been cloned and the gene products, neurofibromin and merlin (also called Schwannomin), respectively, fully characterised (reviewed in Baser et al. 2003, Ferner 2007a, Friedman et al. 1999, Korf and Rubenstein 2005, Upadhyaya and Cooper 1998b). (literal)
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