Results 31 to 40 of about 38,036,070 (284)

Active Middle Ear Implant in a Patient with Neurofibromatosis Type 1 and Multiple Calvarial Defects: A Case Report

open access: yes, 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

Neurofibromatosis 1 French national guidelines based on an extensive literature review since 1966

open access: yesOrphanet 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   +1 more source

Tumorigenesis in neurofibromatosis type 1: role of the microenvironment

open access: yesOncogene, 2021
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

open access: yes, 2022
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

open access: yesSAGE 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

Ocular gamut of neurofibromatosis type 1

open access: yesKerala Journal of Ophthalmology, 2023
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]

open access: yes, 2014
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

open access: yesInternational Journal of Molecular Sciences, 2021
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

Neurofibromatosis type 1

open access: yesEuropean Journal of Cancer, 1994
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

open access: yesThe Oncologist, 2020
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

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