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Solitary Encapsulated Neurofibroma Not Associated with Neurofibromatosis-1 Affecting Tongue in a 73-Year-Old Female
Published 2016-01-01“…Here, we present a unique case of solitary encapsulated neurofibroma in the oral cavity without any clinical manifestations or family history of Neurofibromatosis type 1 in a 73-year-old female patient who presented with a painless swelling on the tongue. …”
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Neurotrophic Receptor Tyrosine Kinase 2 (NTRK2) Alterations in Low-Grade Gliomas: Report of a Novel Gene Fusion Partner in a Pilocytic Astrocytoma and Review of the Literature
Published 2020-01-01“…Hereditary pilocytic astrocytoma is often associated with germline genetic alterations in the tumor suppressor NF1, the gene responsible for the syndrome neurofibromatosis type 1. Sporadic pilocytic astrocytoma frequently harbors somatic alterations in BRAF, with rare pilocytic astrocytomas containing alterations in FGFR1 and NTRK2. …”
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Diffuse Neurofibroma in a Patient with Unknown History of NF1
Published 2018-01-01“…The disease most often develops in the setting of neurofibromatosis type 1 (NF1) but can also occur sporadically. …”
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Plexiform Neurofibroma of the Wrist: Imaging Features and When to Suspect Malignancy
Published 2013-01-01“…Plexiform neurofibromas are essentially pathognomonic for neurofibromatosis type 1 (NF1), occurring when there is diffuse involvement along a nerve segment and its branches. …”
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Radiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT
Published 2025-03-01“…Differential diagnosis includes atherosclerotic aneurysms, Ehlers-Danlos syndrome, Marfan syndrome, neurofibromatosis type 1, and polyarteritis nodosa, which must be distinguished through comprehensive imaging and clinical evaluation. …”
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Multidisciplinary Management of a Giant Plexiform Neurofibroma by Double Sequential Preoperative Embolization and Surgical Resection
Published 2013-01-01“…Plexiform neurofibromas are benign tumors originating from subcutaneous or visceral peripheral nerves, which are usually associated with neurofibromatosis type 1. Giant neurofibromas are very difficult to manage surgically as they are extensively infiltrative and highly vascularized. …”
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Schwann cells in regeneration and cancer
Published 2025-01-01“…Schwann cells are the major cellular component of neurofibromatosis type 1 and the sole cell type in neurofibromatosis type 2 and schwannomatosis. …”
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Molecular mechanisms of autism as a form of synaptic dysfunction
Published 2017-02-01“…Deregulation of the local translation in dendrites is connected with the following monogenic autism spectrum disorders: neurofibromatosis type 1, Noonan syndrome, Costello syndrome, Cowden syndrome, tuberous sclerosis, fragile X chromosome, syndrome, and Rett syndrome. …”
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Vitamin D Status and VDR Genotype in NF1 Patients: A Case-Control Study from Southern Brazil
Published 2015-01-01“…Neurofibromatosis type 1 (NF1) patients are more likely to have vitamin D deficiency when compared to the general population. …”
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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
Published 2025-01-01“…<b>Background:</b> Neurofibromatosis type 1 (NF1) is a complex neurocutaneous disorder caused by pathogenic variants in the <i>NF1</i> gene. …”
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