Results 11 to 20 of about 27,346,886 (339)
Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
Orphanet Journal of Rare Diseases, 2020 Neurofibromatosis type 1 is a relatively common genetic disease, with a prevalence ranging between 1/3000 and 1/6000 people worldwide. The disease affects multiple systems with cutaneous, neurologic, and orthopedic as major manifestations which lead to ...
Christina Bergqvist +6 more
doaj +2 more sources
A conserved circadian function for the Neurofibromatosis 1 gene [PDF]
Cell Reports, 2018 Summary: Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock.
Bai, Lei +10 more
core +4 more sources
The Pathoetiology of Neurofibromatosis 1 [PDF]
The American Journal of Pathology, 2011 Although a mutation in the NF1 gene is the only factor required to initiate the neurocutaneous-skeletal neurofibromatosis 1 (NF1) syndrome, the pathoetiology of the multiple manifestations of this disease in different organ systems seems increasingly complex.
Jouhilahti E-M +3 more
semanticscholar +6 more sources
Acta Dermato-Venereologica, 2018 Neurofibromatosis 1 has various complications. To elucidate the frequency of neurofibromatosis 1-related major complications requiring medical intervention, a nationwide retrospective study was conducted of 3,530 patients with neurofibromatosis 1 ...
Yuichi Yoshida +4 more
doaj +2 more sources
Nature Communications, 2022 Neuronal activity is emerging as a driver of central and peripheral nervous system cancers. Here, we examined neuronal physiology in mouse models of the tumor predisposition syndrome Neurofibromatosis-1 (NF1), with different propensities to develop ...
C. Anastasaki +9 more
semanticscholar +1 more source
A case of solitary digital glomus tumor associated with neurofibromatosis type 1
SAGE Open Medical Case Reports, 2023 An association between glomus tumor and neurofibromatosis type 1 has been reported. It is characterized by multiple tumors and young age at onset. The early diagnosis of neurofibromatosis type 1 is important because it is associated with a high rate of ...
Koichiro Yanai +8 more
doaj +1 more source
European Journal of Human Genetics, 2006 Neurofibromatosis 1 predisposes affected individuals to the development of benign and malignant tumours that are frequently disfiguring and difficult to manage. However, advances in molecular biology and the development of mouse models have facilitated our understanding of disease pathogenesis.
openaire +2 more sources
Gyrification, cortical and subcortical morphometry in neurofibromatosis type 1: an uneven profile of developmental abnormalities. [PDF]
, 2013 Background: Neurofibromatosis type 1 (NF1) is a monogenic disorder associated with cognitive impairments. In order to understand how mutations in the NF1 gene impact brain structure it is essential to characterize in detail the brain structural ...
Castelo-Branco, M +3 more
core +1 more source
Human Pathology, 2017 Neurofibromatosis 1 (NF1) patients develop multiple neurofibromas, with 8–15% of patients experiencing malignant peripheral nerve sheath tumor (MPNST) during their lifetime.
M. Miettinen +11 more
semanticscholar +1 more source
Neuro-Oncology, 2018 Background Neurofibromatosis 1 (NF1) leads to the development of benign and malignant peripheral nerve sheath tumors (MPNST). MPNST have been described to develop in preexisting benign plexiform neurofibromas (PN) and have a poor prognosis.
C. Higham +13 more
semanticscholar +1 more source