Skip to main content
SpringerLink
Log in

Neurofibromatosis Type 1

Molecular and Cellular Biology

  • Book
  • © 2012

Overview

Editors:
  1. Meena Upadhyaya

    1. School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  2. David N. Cooper

    1. School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom

    View editor publications

    You can also search for this editor in PubMed   Google Scholar

  • Represents the most comprehensive and up to date account of this common neuroectodermal disorder

  • An outstanding panel of scientists and clinicians covering all aspects of NF1 biology

  • Lessons learned from the molecular biology of NF1 tumorigenesis can be extrapolated to many other cancers

  • Includes supplementary material: sn.pub/extras

  • Includes supplementary material: sn.pub/extras

This is a preview of subscription content, log in via an institution to check access.

Access this book

Log in via an institution
eBook USD 169.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book USD 219.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Other ways to access

Licence this eBook for your library

Institutional subscriptions

Table of contents (44 chapters)

  1. Front Matter

    Pages i-xvi
    Download chapter PDF

  2. von Recklinghausen Disease: 130 Years

    • Vincent M. Riccardi
    Pages 1-16

  3. Clinical Diagnosis and Atypical Forms of NF1

    • Sirkku Peltonen, Minna Pöyhönen
    Pages 17-30

  4. Management and Treatment of “Complex Neurofibromatosis 1”

    • Rosalie E. Ferner, Susan M. Huson
    Pages 31-45

  5. Mortality in Neurofibromatosis 1

    • Gareth R. Evans
    Pages 47-54

  6. The Cognitive Profile of NF1 Children: Therapeutic Implications

    • Natalie A. Pride, Kathryn N. North
    Pages 55-69

  7. Clinical Expression of NF1 in Monozygotic Twins

    • Elizabeth K. Schorry, Emily Sites
    Pages 71-81

  8. Value of Whole Body MRI in Patients with NF1

    • Victor-Felix Mautner
    Pages 83-91

  9. Quality of Life in NF1

    • Patricia Birch, J. M. Friedman
    Pages 93-103

  10. NF1 Gene: Promoter, 5′ UTR, and 3′ UTR

    • Hua Li, Margaret R. Wallace
    Pages 105-113

  11. The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations

    • David N. Cooper, Meena Upadhyaya
    Pages 115-134

  12. Splicing Mechanisms and Mutations in the NF1 Gene

    • Marco Baralle, Diana Baralle
    Pages 135-150

  13. NF1 Germline and Somatic Mosaicism

    • Ludwine Messiaen, Jing Xie
    Pages 151-172

  14. Deep Intronic NF1 Mutations and Possible Therapeutic Interventions

    • Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra
    Pages 173-186

  15. NF1 Microdeletions and Their Underlying Mutational Mechanisms

    • Hildegard Kehrer-Sawatzki, David N. Cooper
    Pages 187-209

  16. The Somatic Mutational Spectrum of the NF1 Gene

    • Meena Upadhyaya, Nadia Chuzhanova, David N. Cooper
    Pages 211-233

  17. Relationship Between NF1 and Constitutive Mismatch Repair Deficiency

    • Katharina Wimmer
    Pages 235-251

  18. Insights into NF1 from Evolution

    • Britta Bartelt-Kirbach, Dieter Kaufmann
    Pages 253-268

  19. Modifier Genes in NF1

    • Eric Pasmant, Dominique Vidaud, Pierre Wolkenstein
    Pages 269-285

  20. Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models

    • Georgette N. Jones, Karlyne M. Reilly
    Pages 287-304
Back to top

Keywords

About this book

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 of knowledge on the molecular genetics, molecular biology and cellular biology of this tumour predisposition syndrome.

Written by internationally recognized experts in the field, the 44 chapters that constitute this edited volume provide the reader with a broad overview of the clinical features of the disease, the structure and expression of the NF1 gene, its germ line and somatic mutational spectra and genotype-phenotype relationships, the structure and function of its protein product (neurofibromin), NF1 modifying loci, the molecular pathology of NF1-associated tumours, animal models of the disease, psycho-social aspects and future prospects for therapeutic treatment.

Editors and Affiliations

  • School of Medicine, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom

    Meena Upadhyaya, David N. Cooper

Bibliographic Information

  • Book Title: Neurofibromatosis Type 1

  • Book Subtitle: Molecular and Cellular Biology

  • Editors: Meena Upadhyaya, David N. Cooper

  • DOI: https://doi.org/10.1007/978-3-642-32864-0

  • Publisher: Springer Berlin, Heidelberg

  • eBook Packages: Biomedical and Life Sciences, Biomedical and Life Sciences (R0)

  • Copyright Information: Springer-Verlag Berlin Heidelberg 2012

  • Hardcover ISBN: 978-3-642-32863-3Published: 30 January 2013

  • Softcover ISBN: 978-3-662-50717-9Published: 23 August 2016

  • eBook ISBN: 978-3-642-32864-0Published: 29 January 2013

  • Edition Number: 1

  • Number of Pages: XVI, 717

  • Topics: Human Genetics, Cancer Research, Oncology, Molecular Medicine, Neurosciences

Publish with us

Policies and ethics

Back to top

Search

Navigation