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Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder, affecting approximately 1 in 3,500 individuals worldwide. Mutations of the NF1 tumor suppressor gene predispose individuals to a variety of benign and malignant tumors. Rhabdomyosarcoma (RMS) is an uncommon malignant soft tissue sarcoma and is also a rare tumor type in NF1 patients. We(More)
The resonance phenomenon observed in Rayleigh wave scattering from surface-breaking cracks has been investigated using Freund's results on reflection of Rayleigh waves from an infinite crack edge. To model the crack as a section of acoustic waveguide, resonances are treated as standing waves in the length and depth directions. The model takes both faces of(More)
Regenerative response to central nervous system damage in mammals is limited because of inhibitor signals which consist of myelin associated inhibitor proteins and chondroitin sulfate proteoglycans. Inhibitor signals mainly affect cytoskeleton elements which are important for axonal sprouting and neurite outgrowth. Coronin 1A is an actin cytoskeleton(More)
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant disorders. NF1 is clinically characterized by neurofibromas, pigmentation anomalies, and an increased risk of malignant tumors. The NF1 gene product, neurofibromin, has a GTPase-activating protein domain (GRD) that interacts with the Ras protein, which is crucial in regulating(More)
INTRODUCTION Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterized by café-au-lait spots, neurofibromas, skinfold freckles, Lisch nodules, bone deformities, learning disabilities, and predisposition to neoplasms. It is caused by various mutations of the NF1 gene. Recently a 3-bp in-frame deletion in exon 17, c.2970-2972 delAAT(More)
Spinal tumours are observed in about 40% of neurofibromatosis type 1 (NF1) patients and occur within two subgroups: (1) NF1 patients carrying classical diagnostic criteria and only one or few spinal tumours and (2) patients with few NF1 stigmata but multiple bilateral spinal tumours, an entity called spinal neurofibromatosis. We report a young patient whose(More)
Neurofibromatosis type 1 is an autosomal-dominant disorder affecting approximately 1 in 3500 births. It is characterized by café-au-lait spots, neurofibromas, axillary/inguinal freckling, and skeletal and neurologic signs. It exhibits full penetrance and a high mutation rate: 50% of neurofibromatosis type 1 patients represent a new mutation. The gene,(More)
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