Results 21 to 30 of about 30,899,307 (191)
Gene signature associated with benign neurofibroma transformation to malignant peripheral nerve sheath tumors. [PDF]
PLoS ONE, 2017 Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients.
Marta Martínez +3 more
doaj +1 more source
Disease Models & Mechanisms, 2012 SUMMARY Neurofibromatosis type 1 (NF1) is a common, dominantly inherited genetic disorder that results from mutations in the neurofibromin 1 (NF1) gene.
Jimann Shin +17 more
doaj +1 more source
Multimodality Imaging Features of Breast Carcinoma in Women with Neurofibromatosis Type 1 (NF 1) – A Report of Two Cases [PDF]
Middle East Journal of Cancer, 2021 With a prevalence of approximately 1 out of 2,500 to 4,000 births, neurofibromatosis type 1 (NF1), also known as von Recklinghausen’s disease, is one of the most prevalent autosomal dominant diseases in humans.
Wai Chan +5 more
doaj +1 more source
, 2022 Bony abnormalities, including sphenoid dysplasia and calvarial defects, are well recognized in patients with neurofibromatosis type 1. However, having multiple calvarial defects is rare.
Nakamura, Takeshi +9 more
core +1 more source
Multiple odontogenic cysts in a patient with Neurofibromatosis–Noonan syndrome [PDF]
, 2016 Neurofibromatosis–Noonan syndrome (NFNS) is an uncommon chromosomal disorder showing features of both neurofibromatosis (NF-1) and Noonan syndrome (NS). We encountered a case of NFNS with keratocystic odontogenic tumor and dentigerous cysts.
Tohru Ikeda +7 more
core +1 more source
The Role of Co-Deleted Genes in Neurofibromatosis Type 1 Microdeletions: an Evolutive Approach [PDF]
, 2019 Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome that results from dominant loss-of-function mutations mainly in the NF1 gene. Large rearrangements are present in 5–10% of affected patients, generally encompass NF1 neighboring genes ...
Reis, Larissa Brussa +4 more
core +1 more source
Influence of cellular models and individual factor in the biological response to chest CT scan exams
European Radiology Experimental, 2022 Background While computed tomography (CT) exams are the major cause of medical exposure to ionising radiation, there is increasing evidence that the potential radiation-induced risks must be documented.
Clément Devic +10 more
doaj +1 more source
Neurofibromatosis Type 1 in Pregnancy [PDF]
, 2006 The report presents two cases of neurofibromatosis type 1 one previously known and one detected during pregnancy. It describes how the disease was detected and diagnosed, and what was the outcome of pregnancies.
Márton, Ingrid +3 more
core +2 more sources
Manejo quirúrgico de malformaciones del pie por neurofibromatosis tipo 1. Reporte de caso
Revista Colombiana de Ortopedia y TraumatologíaIntroducción. La neurofibromatosis (NF) es un síndrome neurocutáneo que puede afectar diferentes órganos y sistemas. Esta es una enfermedad huérfana-rara y su manejo representa un desafío clínico. Presentación del caso. Mujer de 33 años con malformación
Nathaly Patiño-Vargas +5 more
doaj +1 more source
Reliability of functional outcome measures in adults with neurofibromatosis 1 [PDF]
, 2018 Objectives: To determine intra-rater and inter-rater reliability of functional outcome measures in adults with neurofibromatosis 1 (NF1) and to ascertain how closely objective and subjective measures align.
Williams, V. +11 more
core +1 more source