Upadhyaya, Meena

Neurofibromatosis Type 1

Upadhyaya, Meena - Neurofibromatosis Type 1, ebook


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ISBN: 9783642328640
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Table of contents

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

NF1 Gene: Promoter, 5′ UTR, and 3′ UTR
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 NF1 Gene
Marco Baralle, Diana Baralle

NF1 Germline and Somatic Mosaicism
Ludwine Messiaen, Jing Xie

13. Deep Intronic NF1 Mutations and Possible Therapeutic Interventions
Conxi Lázaro, Juana Fernández-Rodríguez, Eduard Serra

NF1 Microdeletions and Their Underlying Mutational Mechanisms
Hildegard Kehrer-Sawatzki, David N. Cooper

15. The Somatic Mutational Spectrum of the NF1 Gene
Meena Upadhyaya, Nadia Chuzhanova, David N. Cooper

16. Relationship Between NF1 and Constitutive Mismatch Repair Deficiency
Katharina Wimmer

17. Insights into NF1 from Evolution
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

NF1 Mutations in Hematologic Cancers
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

Drosophila: An Invertebrate Model of NF1
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

Publication year
Medicine, Health Care, Mode

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