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Association between Neurofibromatosis Type 1 and Breast Cancer: A Report of Two Cases with a Review of the Literature
Published 2015-01-01“…Neurofibromatosis type 1 (NF1) is one of the most common genetic diseases in humans and is associated with various benign and malignant tumors, including breast cancer. …”
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Usefulness of Whole-Body Fluorine-18-Fluorodeoxyglucose Positron Emission Tomography in Patients with Neurofibromatosis Type 1: A Systematic Review
Published 2012-01-01“…To systematically review the role of positron emission tomography (PET) with fluorine-18-fluorodeoxyglucose (FDG) in patients with neurofibromatosis type 1 (NF1). Methods. A comprehensive literature search of published studies regarding FDG-PET and PET/CT in patients with NF1 was performed. …”
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Clinical Management of Children and Adolescents with Neurofibromatosis Type 1 Like Phenotypes and Complex Behavioural Manifestations: A Multidisciplinary and Dimensional Approach
Published 2019-01-01“…Cognitive and behavioural problems associated with Neurofibromatosis type 1 (NF1) are common sources of distress and the reasons behind seeking help. …”
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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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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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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...
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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A Rare Malignant Peripheral Nerve Sheath Tumor of the Maxilla Mimicking a Periapical Lesion
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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Von Recklinghausen disease with recurrent hip dislocation and Osteonecrosis. Case presentation
Published 2020-04-01“…Von Recklinghausen disease (neurofibromatosis type 1) is one of the most common autosomal dominant diseases which affect humans. …”
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Orbitotemporal Neurofibromatosis: Case Report
Published 2012-01-01“…Plexiform neurofibromas occur in about 60% of neurofibromatosis type 1(NF-1) patients and can lead to severe morbidity by disfigurement or compression of vital structures. …”
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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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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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SDHB-Associated Paraganglioma in a Pediatric Patient and Literature Review on Hereditary Pheochromocytoma-Paraganglioma Syndromes
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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A Pleural Solitary Fibrous Tumor, Multiple Gastrointestinal Stromal Tumors, Moyamoya Disease, and Hyperparathyroidism in a Patient Associated with NF1
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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Oral Metastasis of Metaplastic Breast Carcinoma in a Patient with Neurofibromatosis 1
Published 2014-01-01“…Neurofibromatosis type 1 (NF1) has been associated with an increased risk for development of malignancy, especially malignant peripheral nerve sheath tumors. …”
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A Potential Role for Felbamate in TSC- and NF1-Related Epilepsy: A Case Report and Review of the Literature
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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