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Increased Phenotype Severity Associated with Splice-Site Variants in a Hungarian Pediatric Neurofibromatosis 1 Cohort: A Retrospective Study
Published 2025-01-01Subjects: Get full text
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Abdominal plexiform neurofibroma. Case report
Published 2025-01-01Subjects: “…neurofibromatosis…”
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A Case of Atypical Neurofibromatous Neoplasm of Uncertain Biologic Potential: Unravelling the Enigma
Published 2025-02-01Subjects: Get full text
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Preoperative halo-pelvic traction leading to near-complete airway obstruction in a child with severe thoracic lordosis and scoliosis: a case report
Published 2025-01-01Subjects: Get full text
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Resection of Bilateral Symmetrical Multiple Level Cervical Ganglioneuroma in a 43-Year-Old Man, a Probable Case of Neurofibromatosis Type-1: Report of a Case and Review of Literature
Published 2022-01-01“…In this study, we intend to present our case, a 43-year-old man with multiple cutaneous dimples—probably a Neurofibromatosis type-1 (NF-1) case—and subacute myelopathy, who presented with bilateral symmetric dumbbell shape C2/C3 and C4/C5 intradural extramedullary tumors. …”
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Comparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring
Published 2025-01-01Subjects: Get full text
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Cochlear implantation in vestibular schwannoma: A game changer? A narrative review
Published 2025-05-01Subjects: Get full text
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Plexiform Neurofibroma of the Submandibular Salivary Gland in a Child
Published 2001-01-01“…A three-year-old boy with a family history of neurofibromatosis presented with a rapidly growing left submandibular mass. …”
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Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene
Published 2014-01-01“…Background. Neurofibromatosis type 1 is a genetic disorder caused by loss-of-function mutations in a tumor suppressor gene (NF1) which codifies the protein neurofibromin. …”
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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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Recurrent Stress Cardiomyopathy: A Rare Variant in a Young Patient with Undiagnosed Pheochromocytoma
Published 2021-01-01“…The cardiomyopathy observed was in a patient with neurofibromatosis type I and undiagnosed pheochromocytoma who presented for intervention of hydrocephalus. …”
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Expression of WW Domain-Containing Oxidoreductase WOX1 in Human Nervous System Tumors
Published 2013-01-01“…Background and ObjectiveS: We aimed to evaluate the expression levels of the tumor suppressor WOX1 in nervous system tumors and its co-expression with p53 and neurofibromatosis type 2/merlin (NF2) tumor suppressor gene products.…”
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DIABETES INSIPIDUS: LITTLE-KNOWN FACTS
Published 2019-06-01“…Even less common is diabetes insipidus caused by leukemia, lymphoma, xanthogranulomas, germinomas, HIV infection, pituitary hemorrhage, drug-induced, combined with neurofibromatosis, as well as diabetes insipidus during pregnancy. …”
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NF1 with 47,XYY mosaicism diagnosed by mandibular neurofibromas
Published 2024-05-01“…Abstract Neurofibromatosis type 1 (NF1) is an autosomal dominant nevus disease characterized by multiple manifestations, primarily café-au-lait macules and neurofibromas. …”
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Ominous Occurrence of Spinal Intradural Primary Malignant Peripheral Nerve Sheath Tumor Four Decades following Radiation Therapy for Testicular Seminoma
Published 2020-01-01“…Intradural MPNSTs of the spine outside the setting of neurofibromatosis is extremely rare and can masquerade as common benign nerve sheath tumors, on imaging. …”
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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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