12 NF1 Germline and Somatic Mosaicism Ludwine Messiaen and Jing Xie 13 Deep Intronic NF1 Mutations and Possible Therapeutic Interventions...

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1 Contents 1 von Recklinghausen Disease: 130 Years... 1 Vincent M. Riccardi 2 Clinical Diagnosis and Atypical Forms of NF Sirkku Peltonen and Minna Pöyhönen 3 Management and Treatment of Complex Neurofibromatosis Rosalie E. Ferner and Susan M. Huson 4 Mortality in Neurofibromatosis Gareth R. Evans 5 The Cognitive Profile of NF1 Children: Therapeutic Implications Natalie A. Pride and Kathryn N. North 6 Clinical Expression of NF1 in Monozygotic Twins Elizabeth K. Schorry and Emily Sites 7 Value of Whole Body MRI in Patients with NF Victor-Felix Mautner 8 Quality of Life in NF Patricia Birch and J.M. Friedman 9 NF1 Gene: Promoter, 5 0 UTR, and 3 0 UTR Hua Li and Margaret R. Wallace 10 The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype Phenotype Correlations David N. Cooper and Meena Upadhyaya 11 Splicing Mechanisms and Mutations in the NF1 Gene Marco Baralle and Diana Baralle xiii

2 xiv Contents 12 NF1 Germline and Somatic Mosaicism Ludwine Messiaen and Jing Xie 13 Deep Intronic NF1 Mutations and Possible Therapeutic Interventions Conxi Lázaro, Juana Fernández-Rodríguez, and Eduard Serra 14 NF1 Microdeletions and Their Underlying Mutational Mechanisms Hildegard Kehrer-Sawatzki and David N. Cooper 15 The Somatic Mutational Spectrum of the NF1 Gene Meena Upadhyaya, Nadia Chuzhanova, and David N. Cooper 16 Relationship Between NF1 and Constitutive Mismatch Repair Deficiency Katharina Wimmer 17 Insights into NF1 from Evolution Britta Bartelt-Kirbach and Dieter Kaufmann 18 Modifier Genes in NF Eric Pasmant, Dominique Vidaud, and Pierre Wolkenstein 19 Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models Georgette N. Jones and Karlyne M. Reilly 20 Neurofibromin: Protein Domains and Functional Characteristics Klaus Scheffzek and Stefan Welti 21 Molecular Basis of Bone Abnormalities in NF David A. Stevenson and Florent Elefteriou 22 NF1-Associated Optic Glioma Anne C. Solga and David H. Gutmann 23 Molecular Basis of Cardiovascular Abnormalities in NF Brian K. Stansfield, David A. Ingram, Simon J. Conway, and Jan M. Friedman 24 Molecular Basis of Glomus Tumours Hilde Brems, Eric Legius, and Douglas R. Stewart 25 Pheochromocytoma and NF Birke Bausch and Hartmut P.H. Neumann 26 Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development Juha Peltonen, Eeva-Mari Jouhilahti, and Sirkku Peltonen

3 Contents xv 27 Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors Meena Upadhyaya and David N. Cooper 28 Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF Anat Stemmer-Rachamimov and G. Petur Nielsen 29 Malignant Peripheral Nerve Sheath Tumors: Prognostic and Diagnostic Markers and Therapeutic Targets Holly Meany, Brigitte C. Widemann, and Nancy Ratner 30 NF1 Mutations in Hematologic Cancers Tiffany Chang and Kevin Shannon 31 Legius Syndrome: Diagnosis and Pathology Hilde Brems, Ludwine Messiaen, and Eric Legius 32 The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation William E. Tidyman and Katherine A. Rauen 33 Advances in NF1 Animal Models and Lessons Learned Ophélia Maertens and Karen Cichowski 34 Drosophila: An Invertebrate Model of NF James A. Walker, Jean Y. Gouzi, and André Bernards 35 Zebrafish Model for NF Arun Padmanabhan and 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, and Yuan Zhu 37 Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies Yong-Seok Lee and 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 and Nadège Presneau 40 Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type Bruce Korf, Brigitte Widemann, Maria T. Acosta, and Roger J. Packer

4 xvi Contents 41 The Role of NF1 Lay Foundations: Future Vision Kim Hunter-Schaedle 42 Social Stigma in Neurofibromatosis Joan Ablon 43 Personalized Medicine in NF David Viskochil 44 Neurofibromatosis Type 1: Future Directions (Where Do We Go from Here?) Luis F. Parada Index

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