Neurofibromatosis Type 1 Molecular and Cellular Biology /

• Corporate Author: SpringerLink (Online service)
• Other Authors: Upadhyaya, Meena (Editor), Cooper, David N. (Editor)
• Format: Electronic eBook
• Language: English
• Published: Berlin, Heidelberg : Springer Berlin Heidelberg : Imprint: Springer, 2012.
• Subjects: Medicine.; Cancer research.; Human genetics.; Molecular biology.; Neurosciences.; Oncology.; Biomedicine.; Human Genetics.; Cancer Research.; Molecular Medicine.

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...

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.