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
  18. Klaus Scheffzek, Stefan Welti
    Pages 305-326
  19. David A. Stevenson, Florent Elefteriou
    Pages 327-340
  20. Anne C. Solga, David H. Gutmann
    Pages 341-352
  21. Brian K. Stansfield, David A. Ingram, Simon J. Conway, Jan M. Friedman
    Pages 353-366
  22. Hilde Brems, Eric Legius, Douglas R. Stewart
    Pages 367-379
  23. Birke Bausch, Hartmut P. H. Neumann
    Pages 381-392
  24. Juha Peltonen, Eeva-Mari Jouhilahti, Sirkku Peltonen
    Pages 393-403
  25. Anat Stemmer-Rachamimov, G. Petur Nielsen
    Pages 429-443
  26. Tiffany Chang, Kevin Shannon
    Pages 469-485
  27. Hilde Brems, Ludwine Messiaen, Eric Legius
    Pages 487-496
  28. William E. Tidyman, Katherine A. Rauen
    Pages 497-511
  29. Ophélia Maertens, Karen Cichowski
    Pages 513-521
  30. James A. Walker, Jean Y. Gouzi, André Bernards
    Pages 523-534
  31. Arun Padmanabhan, Jonathan A. Epstein
    Pages 535-547
  32. Johanna Buchstaller, D. Wade Clapp, Luis F. Parada, Yuan Zhu
    Pages 549-568
  33. Adrienne M. Flanagan, Nadège Presneau
    Pages 611-623
  34. Bruce Korf, Brigitte Widemann, Maria T. Acosta, Roger J. Packer
    Pages 625-657
  35. Kim Hunter-Schaedle
    Pages 659-671
  36. Joan Ablon
    Pages 673-682
  37. David Viskochil
    Pages 683-689
  38. Back Matter
    Pages 699-717

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