Showing 61 - 80 results of 83 for search '"Neurofibromatosis"', query time: 0.05s Refine Results
  1. 61

    Is a “floater” always a floater? Case report and short review of sphenoid meningiomas’ ocular manifestation by Dominik Sokalski, Jacek P. Szaflik, Joanna Przybek-Skrzypecka

    Published 2024-05-01
    “…The incidence of meningiomas increases progressively with age and might be related to general diseases, e.g. neurofibromatosis type 2 and exposure to radiation. Ocular symptoms are mainly reported in sphenoorbital meningiomas with proptosis, decreased visual acuity and visual field scotomas being the most common. …”
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  2. 62

    Meningiomatosis Restricted to the Left Cerebral Hemisphere Presenting with Frontal Lobe Seizure: A Short Communication by Biniyam A. Ayele, Hilina Dagnachew, Meskerem Nimani, Jarsso Tadesse Hirbu

    Published 2024-12-01
    “…We present the case of a 42-year-old woman without neurofibromatosis who experienced global headaches and nocturnal motor seizure involving the right hemi body, associated with loss of consciousness. …”
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  3. 63

    Plexiform Neurofibroma of the Wrist: Imaging Features and When to Suspect Malignancy by Maria Gosein, Anthony Ameeral, Renee Banfield, Murrie Mosodeen

    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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  4. 64

    Multiple Intracranial Meningiomas: A Review of the Literature and a Case Report by F. Koech, J. Orege, F. Ndiangui, B. Macharia, N. Mbaruku

    Published 2013-01-01
    “…Multiple intracranial meningiomas are a condition where there is more than one meningioma in several intracranial locations in the same patient without signs of neurofibromatosis. Incidence varies from 1 to 10%. The prognosis of multiple intracranial meningioma does not differ from benign solitary meningiomas despite the multiplicity. …”
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  5. 65

    A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1 by Yoko Yamamoto, Ken Kodama, Shigekazu Yokoyama, Masashi Takeda, Shintaro Michishita

    Published 2015-01-01
    “…Neurofibromatosis type 1 (NF1), also called von Recklinghausen’s disease, is a multisystemic disease caused by an alteration of the NF1 gene, a tumor suppressor located on the long arm of chromosome 17 (17q11.2). …”
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  6. 66

    SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes by Heather Choat, Kerri Derrevere, Lisa Knight, Whitney Brown, Elizabeth H. Mack

    Published 2014-01-01
    “…While some cases are sporadic, they have commonly been associated with syndromes such as von Hippel-Lindau, multiple endocrine neoplasia types IIa and IIb, neurofibromatosis type 1, and hereditary pheochromocytoma-paraganglioma syndromes. …”
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  7. 67

    Cylindroma Mimicking Neurofibroma by Vinod Kumar Gonuru, Sridhar Reddy Dandala, M.S.S. Samhita, Ashok Kumar

    Published 2023-09-01
    “…Their presentation resembles that of Neurofibromatosis and hence histopathological examination holds significance here. …”
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  8. 68

    Molecular mechanisms of autism as a form of synaptic dysfunction by E. A. Trifonova, T. M. Khlebodarova, N. E. Gruntenko

    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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  9. 69

    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 by Siobhan S. Pattwell, Eric Q. Konnick, Yajuan J. Liu, Rebecca A. Yoda, Laligam N. Sekhar, Patrick J. Cimino

    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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  10. 70

    Melanotic Schwannomas Are Rarely Seen Pigmented Tumors with Unpredictable Prognosis and Challenging Diagnosis by Elif Keskin, Sumeyye Ekmekci, Ozgur Oztekin, Gulden Diniz

    Published 2017-01-01
    “…A 22-year-old female presented with neurofibromatosis-2, bilateral acoustic schwannomas and café au lait lesions on sacrococcygeal region. …”
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  11. 71

    Ipsilateral Vestibular Schwannoma after Cochlear Implantation by S. Tüpker, N. Ay, L. U. Scholtz, H. B. Gehl, V. F. Mautner, P. Goon, H. Sudhoff, I. Todt

    Published 2022-01-01
    “…A 71-year-old woman with sudden hearing loss and a contralateral vestibular schwannoma without clinical and genetic signs of neurofibromatosis type II. Intervention(s). Ipsilateral cochlear implantation and contralateral vestibular schwannoma extirpation with regular tumor follow-up. …”
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    Article
  12. 72

    Schwannoma of the Median Nerve at the Wrist and Palmar Regions of the Hand: A Rare Case Report by Harun Kütahya, Ali Güleç, Yunus Güzel, Burkay Kacira, Serdar Toker

    Published 2013-01-01
    “…They usually present solitary swelling along the course of the nerve however multiple lesions may be present in cases of NF type 1, familial neurofibromatosis, and sporadic schwannomatosis. Schwannomas are generally represented as an asymptomatic mass; however pain, numbness and fatigue may take place with the increasing size of the tumour. …”
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  13. 73

    A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature by Natanya M. Mishal, Dimitrios Arkilo, Ju Tang, John R. Crawford, Sonya G. Wang

    Published 2015-01-01
    “…A 15-year-old girl with maternal inheritance of neurofibromatosis type 1 (NF1) and paternal inheritance of tuberous sclerosis complex (TSC) developed intractable epilepsy at age 5. …”
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  14. 74

    Multidisciplinary Management of a Giant Plexiform Neurofibroma by Double Sequential Preoperative Embolization and Surgical Resection by Roberto Vélez, Sergi Barrera-Ochoa, David Barastegui, Mercedes Pérez-Lafuente, Cleofe Romagosa, Manuel Pérez

    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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  15. 75

    Radiological insights into fibromuscular dysplasia unveiled by intracranial aneurysms and iliac vein hypoplasia in suspected DVT by Abderrahmane Ibenyahia, MD, Oumaima Elkaddouri, MD, Mounir Salek, MD, Salma Boustani, MD, Soufiane Bigi, MD, Said Adnor, MD, Wassila Bouissar, MD, Soukaina Wakrim, MD

    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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  16. 76
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  18. 78

    Clinical Efficacy of Three-Dimensional-Printed Pure Titanium Fracture Plates with Locking Screw Systems in Distal Tibia Fractures by Ji Hye Choi, Jun Hyoung Lee, Seung Hyeop Lee, Woo Young Jang

    Published 2025-01-01
    “…However, one patient with neurofibromatosis experienced a fractured metal plate, which necessitated revision surgery using a metal rod. …”
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  19. 79

    Global proteomics and affinity mass spectrometry analysis of human Schwann cells indicates that variation in and loss of neurofibromin (NF1) alters protein expression and cellular... by Christian X Fay, Elizabeth R.M. Zunica, Elias Awad, William Bradley, Cameron Church, Jian Liu, Hui Liu, David K. Crossman, James A. Mobley, John P. Kirwan, Christopher L. Axelrod, Erik Westin, Robert A. Kesterson, Deeann Wallis

    Published 2025-01-01
    “…Abstract In efforts to evaluate potential biomarkers and drug targets for Neurofibromatosis Type I (NF1) we utilized affinity mass spectrometry and global proteomics to investigate how variation within and loss of NF1 affect immortalized human Schwann cells. …”
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  20. 80

    A Rare Malignant Peripheral Nerve Sheath Tumor of the Maxilla Mimicking a Periapical Lesion by José Alcides Arruda, Pamella Álvares, Luciano Silva, Alexandrino Pereira dos Santos Neto, Cleomar Donizeth Rodrigues, Antônio Caubi, Marcia Silveira, Sandra Sayão, Ana Paula Sobral

    Published 2016-01-01
    “…About 50% of this tumor occurs in patients with neurofibromatosis type I and comprises approximately 10% of all soft tissue sarcomas of head and neck region. …”
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