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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
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Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966
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 +1 more source
Tumorigenesis in neurofibromatosis type 1: role of the microenvironment
Neurofibromatosis Type 1 (NF1) is one of the most common inherited neurological disorders and predisposes patients to develop benign and malignant tumors.
Chunhui Jiang, Renee M. McKay, L. Le
semanticscholar +1 more source
Neurofibromatosis segmentaria, a propósito de un caso
Introduction: neurofibromatosis is a genetic disorder that affects the growth of neural tissues, with an incidence of 1 in 4 000, with impact on life expectancy due its association with neoplasms and vascular disease.
Dufflart Ocampo, Juan David +5 more
core +1 more source
A case of solitary digital glomus tumor associated with neurofibromatosis type 1
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
Ocular gamut of neurofibromatosis type 1
Background: Neurofibromatosis type 1 (NF1) is a multi-system autosomal dominant disorder affecting 1 in 3000 individuals. The diagnostic criteria of NF1 includes ocular manifestations.
Prathibha Shanthaveerappa +3 more
doaj +1 more source
Coexistence of neurofibromatosis type-1 and primary pulmonary sarcoma: a case report and review of the literature [PDF]
Neurofibromatosis type-1 (NF1) is a genetic disorder characterized by café-au-lait spots, neurofibroma and other associated features. The risk of malignancy is approximately 2.5 to 4-fold higher as compared to general population.
Lim, Suat Yee +4 more
core +1 more source
Neurofibromatosis Type 1 Gene Alterations Define Specific Features of a Subset of Glioblastomas
Neurofibromatosis type 1 (NF1) gene mutations or alterations occur within neurofibromatosis type 1 as well as in many different malignant tumours on the somatic level.
M. Scheer +6 more
semanticscholar +1 more source
European Journal of Cancer 30 (1994) 1974-1981. doi:10.1016/0959-8049(94)00389-M ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:23:06 ; DOI:10.1016/0959-8049(94)00389-M ; Page Range: 1974 ...
The authors are at the Department of Pediatrics, Division of Genetics, Center for Mammalian Genetics S.W. Archer Road, Box 100296, University of Florida, Gainesville, Florida 32610-0296, U.S.A. ( host institution ) +2 more
openaire +3 more sources
The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities
Early‐phase clinical trials using oral inhibitors of MEK, the mitogen‐activated protein kinase kinase, have demonstrated benefit for patients with neurofibromatosis type 1 (NF1)‐associated tumors, particularly progressive low‐grade gliomas and plexiform ...
L. Klesse +9 more
semanticscholar +1 more source

