Results 11 to 20 of about 97,471 (278)
Cancer MedicinePurpose Phakomatoses‐associated primary central nervous system (CNS) tumors are therapeutically challenging due to young age of onset, multiple tumors, and prolonged morbidity from long‐term survival.
Anuradha Krishnan +10 more
doaj +2 more sources
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
doaj +1 more source
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use
Neurology, 2021 Objective Because clinically validated biomarkers for neurofibromatosis 1 (NF1) and neurofibromatosis 2 (NF2) have not been identified, we aimed to determine whether genotype-phenotype correlations are useful in clinical trials in NF1 and NF2.
C. Bettegowda +5 more
semanticscholar +1 more source
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
doaj +1 more source
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
doaj +1 more source
Outcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study. [PDF]
CancerAbstract Background Malignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas with a 5‐year survival rate of approximately 50%, secondary to their metastatic potential and resistance to therapy. MPNSTs can arise sporadically, as a late toxicity from therapeutic radiotherapy, or in patients with neurofibromatosis type 1 (NF1).
Aubrey RE +7 more
europepmc +2 more sources
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
openaire +2 more sources
An Update on Neurofibromatosis Type 1-Associated Gliomas
Cancers, 2020 Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome that affects children and adults. Individuals with NF1 are at high risk for central nervous system neoplasms including gliomas. The purpose of this review is to discuss
Mina Lobbous +10 more
semanticscholar +1 more source
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
doaj +1 more source
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
core +3 more sources