Neurofibromatosis Type 1

Molecular and Cellular Biology

  • Meena Upadhyaya
  • David N. Cooper

Table of contents

  1. Front Matter
    Pages i-xvi
  2. Vincent M. Riccardi
    Pages 1-16
  3. Sirkku Peltonen, Minna Pöyhönen
    Pages 17-30
  4. Rosalie E. Ferner, Susan M. Huson
    Pages 31-45
  5. Gareth R. Evans
    Pages 47-54
  6. Natalie A. Pride, Kathryn N. North
    Pages 55-69
  7. Elizabeth K. Schorry, Emily Sites
    Pages 71-81
  8. Victor-Felix Mautner
    Pages 83-91
  9. Patricia Birch, J. M. Friedman
    Pages 93-103
  10. Hua Li, Margaret R. Wallace
    Pages 105-113
  11. Marco Baralle, Diana Baralle
    Pages 135-150
  12. Ludwine Messiaen, Jing Xie
    Pages 151-172
  13. Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra
    Pages 173-186
  14. Hildegard Kehrer-Sawatzki, David N. Cooper
    Pages 187-209
  15. Meena Upadhyaya, Nadia Chuzhanova, David N. Cooper
    Pages 211-233
  16. Britta Bartelt-Kirbach, Dieter Kaufmann
    Pages 253-268
  17. Eric Pasmant, Dominique Vidaud, Pierre Wolkenstein
    Pages 269-285

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.

Neurofibromatosis Type 1: Molecular and Cellular Biology will be of great value to medical geneticists, molecular and cellular biologists, oncologists, dermatologists, neurologists, genetic counsellors and general practitioners alike.



NF1 gene genotype-phenotype correlations mutation neurofibromatosis type 1

Editors and affiliations

  • Meena Upadhyaya
    • 1
  • David N. Cooper
    • 2
  1. 1.School of Medicine, Institute of Medical GeneticsCardiff UniversityCardiffUnited Kingdom
  2. 2.School of Medicine, Institute of Medical GeneticsCardiff UniversityCardiffUnited Kingdom

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2012
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Biomedical and Life Sciences
  • Print ISBN 978-3-642-32863-3
  • Online ISBN 978-3-642-32864-0
  • About this book