Neurofibromatosis Type 1 Molecular and Cellular Biology

Neurofibromatosis Type 1 Molecular and Cellular Biology / edited by Meena Upadhyaya, David N Cooper.

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...

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Bibliographic Details
Corporate Author: SpringerLink (Online service)
Other Authors: Upadhyaya, Meena (Editor), Cooper, David N. (Editor)
Format: eBook
Language:English
Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
Edition:1st ed. 2012.
Series:Springer eBook Collection.
Subjects:
Human genetics.
Cancer research.
Oncology  .
Molecular biology.
Neurosciences.
Electronic resources (E-books)
Online Access:Click to view e-book
Holy Cross Note:Loaded electronically.
Electronic access restricted to members of the Holy Cross Community.
Table of Contents:
  • 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.

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