Neurofibromatosis Type 1

Table of Contents

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   Book Overview
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   Chapter 1 von Recklinghausen Disease: 130 Years
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   Chapter 2 Clinical Diagnosis and Atypical Forms of NF1
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   Chapter 3 Management and Treatment of “Complex Neurofibromatosis 1”
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   Chapter 4 Mortality in Neurofibromatosis 1
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   Chapter 5 The Cognitive Profile of NF1 Children: Therapeutic Implications
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   Chapter 6 Clinical Expression of NF1 in Monozygotic Twins
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   Chapter 7 Value of Whole Body MRI in Patients with NF1
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   Chapter 8 Quality of Life in NF1
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    Chapter 9 NF1 Gene: Promoter, 5′ UTR, and 3′ UTR
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    Chapter 10 The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations
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    Chapter 11 Splicing Mechanisms and Mutations in the NF1 Gene
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    Chapter 12 NF1 Germline and Somatic Mosaicism
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    Chapter 13 Deep Intronic NF1 Mutations and Possible Therapeutic Interventions
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    Chapter 14 NF1 Microdeletions and Their Underlying Mutational Mechanisms
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    Chapter 15 The Somatic Mutational Spectrum of the NF1 Gene
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    Chapter 16 Relationship Between NF1 and Constitutive Mismatch Repair Deficiency
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    Chapter 17 Insights into NF1 from Evolution
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    Chapter 18 Modifier Genes in NF1
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    Chapter 19 Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models
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    Chapter 20 Neurofibromin: Protein Domains and Functional Characteristics
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    Chapter 21 Molecular Basis of Bone Abnormalities in NF1
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    Chapter 22 NF1-Associated Optic Glioma
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    Chapter 23 Molecular Basis of Cardiovascular Abnormalities in NF1
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    Chapter 24 Molecular Basis of Glomus Tumours
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    Chapter 25 Pheochromocytoma and NF1
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    Chapter 26 Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development
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    Chapter 27 Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors
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    Chapter 28 Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1
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    Chapter 29 Malignant Peripheral Nerve Sheath Tumors: Prognostic and Diagnostic Markers and Therapeutic Targets
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    Chapter 30 NF1 Mutations in Hematologic Cancers
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    Chapter 31 Legius Syndrome: Diagnosis and Pathology
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    Chapter 32 The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation
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    Chapter 33 Advances in NF1 Animal Models and Lessons Learned
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    Chapter 34 Drosophila: An Invertebrate Model of NF1
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    Chapter 35 Zebrafish Model for NF1
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    Chapter 36 Cell of Origin and the Contribution of Microenvironment in NF1 Tumorigenesis and Therapeutic Implications
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    Chapter 37 Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies
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    Chapter 38 Ras Signaling Pathway in Biology and Therapy of Malignant Peripheral Nerve Sheath Tumors
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    Chapter 39 MicroRNA and NF1 Tumorigenesis
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    Chapter 40 Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1
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    Chapter 41 The Role of NF1 Lay Foundations: Future Vision
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    Chapter 42 Social Stigma in Neurofibromatosis 1
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    Chapter 43 Personalized Medicine in NF1
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    Chapter 44 Neurofibromatosis Type 1: Future Directions (Where Do We Go from Here?)