Upadhyaya, Meena
Neurofibromatosis Type 1
1. von Recklinghausen Disease: 130 Years
Vincent M. Riccardi
2. Clinical Diagnosis and Atypical Forms of NF1
Sirkku Peltonen, Minna Pöyhönen
3. Management and Treatment of “Complex Neurofibromatosis 1”
Rosalie E. Ferner, Susan M. Huson
4. Mortality in Neurofibromatosis 1
Gareth R. Evans
5. The Cognitive Profile of NF1 Children: Therapeutic Implications
Natalie A. Pride, Kathryn N. North
6. Clinical Expression of NF1 in Monozygotic Twins
Elizabeth K. Schorry, Emily Sites
7. Value of Whole Body MRI in Patients with NF1
Victor-Felix Mautner
8. Quality of Life in NF1
Patricia Birch, J. M. Friedman
9.
Hua Li, Margaret R. Wallace
10. The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations
David N. Cooper, Meena Upadhyaya
11. Splicing Mechanisms and Mutations in the
Marco Baralle, Diana Baralle
12.
Ludwine Messiaen, Jing Xie
13. Deep Intronic
Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra
14.
Hildegard Kehrer-Sawatzki, David N. Cooper
15. The Somatic Mutational Spectrum of the
Meena Upadhyaya, Nadia Chuzhanova, David N. Cooper
16. Relationship Between NF1 and Constitutive Mismatch Repair Deficiency
Katharina Wimmer
17. Insights into
Britta Bartelt-Kirbach, Dieter Kaufmann
18. Modifier Genes in NF1
Eric Pasmant, Dominique Vidaud, Pierre Wolkenstein
19. Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models
Georgette N. Jones, Karlyne M. Reilly
20. Neurofibromin: Protein Domains and Functional Characteristics
Klaus Scheffzek, Stefan Welti
21. Molecular Basis of Bone Abnormalities in NF1
David A. Stevenson, Florent Elefteriou
22. NF1-Associated Optic Glioma
Anne C. Solga, David H. Gutmann
23. Molecular Basis of Cardiovascular Abnormalities in NF1
Brian K. Stansfield, David A. Ingram, Simon J. Conway, Jan M. Friedman
24. Molecular Basis of Glomus Tumours
Hilde Brems, Eric Legius, Douglas R. Stewart
25. Pheochromocytoma and NF1
Birke Bausch, Hartmut P. H. Neumann
26. Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development
Juha Peltonen, Eeva-Mari Jouhilahti, Sirkku Peltonen
27. Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors
Meena Upadhyaya, David N. Cooper
28. Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1
Anat Stemmer-Rachamimov, G. Petur Nielsen
29. Malignant Peripheral Nerve Sheath Tumors: Prognostic and Diagnostic Markers and Therapeutic Targets
Holly Meany, Brigitte C. Widemann, Nancy Ratner
30.
Tiffany Chang, Kevin Shannon
31. Legius Syndrome: Diagnosis and Pathology
Hilde Brems, Ludwine Messiaen, Eric Legius
32. The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation
William E. Tidyman, Katherine A. Rauen
33. Advances in NF1 Animal Models and Lessons Learned
Ophélia Maertens, Karen Cichowski
34.
James A. Walker, Jean Y. Gouzi, André Bernards
35. Zebrafish Model for NF1
Arun Padmanabhan, Jonathan A. Epstein
36. Cell of Origin and the Contribution of Microenvironment in NF1 Tumorigenesis and Therapeutic Implications
Johanna Buchstaller, D. Wade Clapp, Luis F. Parada, Yuan Zhu
37. Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies
Yong-Seok Lee, Alcino J. Silva
38. Ras Signaling Pathway in Biology and Therapy of Malignant Peripheral Nerve Sheath Tumors
Faris Farassati
39. MicroRNA and NF1 Tumorigenesis
Adrienne M. Flanagan, Nadège Presneau
40. Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1
Bruce Korf, Brigitte Widemann, Maria T. Acosta, Roger J. Packer
41. The Role of NF1 Lay Foundations: Future Vision
Kim Hunter-Schaedle
42. Social Stigma in Neurofibromatosis 1
Joan Ablon
43. Personalized Medicine in NF1
David Viskochil
44. Neurofibromatosis Type 1: Future Directions (Where Do We Go from Here?)
Luis F. Parada
Keywords: Biomedicine, Human Genetics, Cancer Research, Oncology, Molecular Medicine, Neurosciences
- Author(s)
- Upadhyaya, Meena
- Cooper, David N.
- Publisher
- Springer
- Publication year
- 2012
- Language
- en
- Edition
- 2012
- Page amount
- 16 pages
- Category
- Medicine, Health Care, Mode
- Format
- Ebook
- eISBN (PDF)
- 9783642328640