Results 1 to 10 of about 24,238,809 (267)

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   +2 more sources

Epidemiological Analysis of Major Complications Requiring Medical Intervention in Patients with Neurofibromatosis 1

open access: yesActa 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

Choroidal neurofibromas in neurofibromatosis 1

open access: yesOman Journal of Ophthalmology, 2022
Taha Muneer Ahmed, M A Rehman Siddiqui
doaj   +2 more sources

Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1

open access: yesNature 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

Neurofibromatosis type 1: a single center's experience in Korea [PDF]

open access: yesKorean Journal of Pediatrics, 2014
PurposeNeurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system.
Min Jeong Kim, Chong Kun Cheon
doaj   +1 more source

Clinical Masks of Neurofibromatosis Type 1

open access: yesАрхивъ внутренней медицины, 2022
Neurofibromatosis type 1 is the most common autosomal dominant tumor syndrome. The prevalence of the disease is 1 in 3000 people. Neurofibromatosis type 1 is characterized by the gradual appearance of signs of the disease and pronounced clinical ...
R. N. Mustafin
doaj   +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

Guidelines for the Multidisciplinary Diagnosis and Treatment of Neurofibromatosis Type 1(2023 Version)

open access: yes罕见病研究, 2023
Neurofibromatosis type 1(NF1) is an autosomal dominant hereditary neoplastic disease caused by mutations in the NF1 gene. Features of disorder typically appear in early childhood.
Multidisciplinary Diagnosis and Treatment Collaboration Group for Neurofibromatosis Type 1 of China Alliance for Rare Diseases
doaj   +1 more source

An Uncommon Presentation of Pheochromocytoma in Neurofibromatosis Type 1 and the Importance of Long-Term Follow-Up

open access: yesActa Médica Portuguesa, 2022
Neurofibromatosis type 1 (NFT1) is a disease caused by mutations in the tumor suppressor gene NF1. It is associated with a higher incidence of chromaffin cell tumors which are usually adrenal, unilateral and benign.
Inês Henriques Vieira   +3 more
doaj   +1 more source

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