Neurofibromatosis Type 1 Molecular and Cellular Biology /

Neurofibromatosis type 1 (NF1), caused by mutational inactivation of the NF1 tumour suppressor gene, is one of the most common dominantly inherited human disorders, affecting 1 in 3000 individuals worldwide. This book presents in concise fashion, but as comprehensively as possible, our current state...

Πλήρης περιγραφή

Λεπτομέρειες βιβλιογραφικής εγγραφής
Συγγραφή απο Οργανισμό/Αρχή: SpringerLink (Online service)
Άλλοι συγγραφείς: Upadhyaya, Meena (Επιμελητής έκδοσης), Cooper, David N. (Επιμελητής έκδοσης)
Μορφή: Ηλεκτρονική πηγή Ηλ. βιβλίο
Γλώσσα:English
Έκδοση: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
Θέματα:
Διαθέσιμο Online:Full Text via HEAL-Link
Πίνακας περιεχομένων:
  • From the Contents: von Recklinghausen disease
  • Clinical diagnosis and atypical cases
  • Management and treatment of NF1: complex UK NF1 clinics
  • Mortality in NF1
  • The cognitive profile of NF1 children, therapeutic implications
  • Clinical expression of NF1 in monozygotic twins
  • Whole body MRI studies in NF1 patients
  • Quality of Life in NF1
  • NF1 gene: promoter, 3’UTR and complex features
  • Germline mutational spectrum of  NF1 and Genotype-Phenotype Correlations
  • Splicing mechanisms and mutations in the NF1 gene
  • NF1 Germline and somatic mosaicism
  • Deep intronic NF1 mutations and possible therapeutic interventions
  • NF1 microdeletions and mutational mechanisms
  • NF1 somatic mutational spectrum
  • Social Stigma in NF1
  • Personalized Medicine in NF1
  • Future Directions - Where do we go from here.