دانلود کتاب Neurofibromatosis Type 1: Molecular and Cellular Biology

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Front Matter....Pages i-xvi
von Recklinghausen Disease: 130 Years....Pages 1-16
Clinical Diagnosis and Atypical Forms of NF1....Pages 17-30
Management and Treatment of “Complex Neurofibromatosis 1”....Pages 31-45
Mortality in Neurofibromatosis 1....Pages 47-54
The Cognitive Profile of NF1 Children: Therapeutic Implications....Pages 55-69
Clinical Expression of NF1 in Monozygotic Twins....Pages 71-81
Value of Whole Body MRI in Patients with NF1....Pages 83-91
Quality of Life in NF1....Pages 93-103
NF1 Gene: Promoter, 5′ UTR, and 3′ UTR....Pages 105-113
The Germline Mutational Spectrum in Neurofibromatosis Type 1 and Genotype–Phenotype Correlations....Pages 115-134
Splicing Mechanisms and Mutations in the NF1 Gene....Pages 135-150
NF1 Germline and Somatic Mosaicism....Pages 151-172
Deep Intronic NF1 Mutations and Possible Therapeutic Interventions....Pages 173-186
NF1 Microdeletions and Their Underlying Mutational Mechanisms....Pages 187-209
The Somatic Mutational Spectrum of the NF1 Gene....Pages 211-233
Relationship Between NF1 and Constitutive Mismatch Repair Deficiency....Pages 235-251
Insights into NF1 from Evolution....Pages 253-268
Modifier Genes in NF1....Pages 269-285
Dissection of Complex Genetic and Epigenetic Interactions Underlying NF1 Cancer Susceptibility Using Mouse Models....Pages 287-304
Neurofibromin: Protein Domains and Functional Characteristics....Pages 305-326
Molecular Basis of Bone Abnormalities in NF1....Pages 327-340
NF1-Associated Optic Glioma....Pages 341-352
Molecular Basis of Cardiovascular Abnormalities in NF1....Pages 353-366
Molecular Basis of Glomus Tumours....Pages 367-379
Pheochromocytoma and NF1....Pages 381-392
Molecular and Cellular Basis of Human Cutaneous Neurofibromas and Their Development....Pages 393-403
Somatic Copy Number Alterations: Gene and Protein Expression Correlates in NF1-Associated Malignant Peripheral Nerve Sheath Tumors....Pages 405-428
Pathologic and Molecular Diagnostic Features of Peripheral Nerve Sheath Tumors in NF1....Pages 429-443
Malignant Peripheral Nerve Sheath Tumors: Prognostic and Diagnostic Markers and Therapeutic Targets....Pages 445-467
NF1 Mutations in Hematologic Cancers....Pages 469-485
Legius Syndrome: Diagnosis and Pathology....Pages 487-496
The RASopathies: Syndromes of Ras/MAPK Pathway Dysregulation....Pages 497-511
Advances in NF1 Animal Models and Lessons Learned....Pages 513-521
Drosophila : An Invertebrate Model of NF1....Pages 523-534
Zebrafish Model for NF1....Pages 535-547
Cell of Origin and the Contribution of Microenvironment in NF1 Tumorigenesis and Therapeutic Implications....Pages 549-568
Molecular and Cellular Approaches to Cognitive Impairments Associated with NF1 and Other Rasopathies....Pages 569-588
Ras Signaling Pathway in Biology and Therapy of Malignant Peripheral Nerve Sheath Tumors....Pages 589-609
MicroRNA and NF1 Tumorigenesis....Pages 611-623
Translational/Clinical Studies in Children and Adults with Neurofibromatosis Type 1....Pages 625-657
The Role of NF1 Lay Foundations: Future Vision....Pages 659-671
Social Stigma in Neurofibromatosis 1....Pages 673-682
Personalized Medicine in NF1....Pages 683-689
Neurofibromatosis Type 1: Future Directions (Where Do We Go from Here?)....Pages 691-698
Back Matter....Pages 699-717