Results 11 to 20 of about 86,851 (276)
Pediatric Neurology Briefs, 1987 LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
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A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]
Journal of Medical Case ReportsBackground Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung +3 more
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Cancers, 2020 In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Hovinga, Koos E., Temel, Yasin
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Orphanet Journal of Rare Diseases, 2022 Background There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in ...
G. Hamoy-Jimenez +5 more
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Sexual Self-Esteem and Psychological Burden of Adults With Neurofibromatosis Type 1
Frontiers in Psychology, 2022 Neurofibromatosis type 1 (NF1) is one of the most common tumor predisposition syndromes which primarily affects the skin. NF1 is characterized by various degrees of skin tumors and pigmentation abnormalities such as café-au-lait macules.
Anna Leidger +3 more
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Neurofibromin expression by normal salivary glands
Head & Face Medicine, 2021 Introduction Neurofibromin, a protein encoded by the NF1 gene, is mutated in neurofibromatosis 1, one of the most common genetic diseases. Oral manifestations are common and a high prevalence of hyposalivation was recently described in individuals with ...
Eloá Borges Luna +3 more
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Reliability of functional outcome measures in adults with neurofibromatosis 2
SAGE Open Medicine, 2022 Objective: To determine inter- and intra-rater reliability of functional performance outcome measures in people with neurofibromatosis 2. To ascertain how closely objective and subjective measures align. Methods: Twenty-nine people with neurofibromatosis
Rebecca Louise Mullin +4 more
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Ocular Neurofibromatosis [PDF]
Cureus, 2021 A 14-year-old boy presented with a right orbital lid mass, which had slowly grown over the last 4.5 years, as well as some impaired visual acuity in the affected (right) eye. We assessed the patient by taking a detailed history and physical examination.
Alkhairy, Saba, Baig, Mahad M
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Nature Communications, 2020 Recent studies suggest spatial segregation of tumor initiation and manifestation in IDH-WT glioblastomas. Here, the authors use serial MRI/3D-reconstruction, whole-genome sequencing and spectral karyotyping-based single-cell phylogenetic tree building to
Yinghua Li +15 more
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NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
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