Patient-Reported Quality of Life Outcomes in Patients With Neurofibromatoses Undergoing Surgery [PDF]
Ayana K. Cole-Price, BS +5 more
doaj +2 more sources
Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F +21 more
core +5 more sources
Lung parenchima changes in neurofibromatosis type 1 [PDF]
Introduction. Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is one of the most common single-gene disorders (mutation on chromosome 17q) and usually associated with cutaneous, musculoskeletal and neurological ...
Ilić Aleksandra +4 more
doaj +1 more source
Neurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes.
Said, Farschtschi +5 more
openaire +3 more sources
Neurofibroma of the appendix and multiple gastrointestinal stromal tumors of small bowel in neurofibromatosis type 1 patient [PDF]
Neurofibromatosis type 1 (NF-1) is an autosomal dominant hereditary disease with association of tumorous condition of body. Although the pathogenesis of tumorous condition with NF-1 is unclear, there were several reports for gastrointestinal tumors ...
Gui-Ae Jeong
doaj +1 more source
Report of an Uncommon Case of Huge Neurofibroma in the Buccal Mucosa
Objectives Neurofibroma (solitary or multiple) is a benign neurogenic jaw tumor with peripheral nerve origin. It is commonly found in the skin and the head and neck region but its occurrence in the oral cavity is rare.
Fatemeh Mashhadiabbas +2 more
doaj +1 more source
Integrative analysis identifies candidate tumor microenvironment and intracellular signaling pathways that define tumor heterogeneity in NF1 [PDF]
Neurofibromatosis type 1 (NF1) is a monogenic syndrome that gives rise to numerous symptoms including cognitive impairment, skeletal abnormalities, and growth of benign nerve sheath tumors.
Allaway, Robert J +11 more
core +2 more sources
Schwannomatosis is a rare autosomal dominant genetic syndrome characterized by the presence of multiple schwannomas. The main symptom is neurogenic pain.
I. Gallais Sérézal +5 more
doaj +1 more source
The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
Neurofibromatosis (NF) is a heterogeneous group of tumor predisposition syndromes that lead to malignancy in the central and peripheral nervous systems.
Fatemeh Shahraki, Morteza Oladnabi
doaj
Neurofibromatosis: part 2 – clinical management
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors
Pollyanna Barros Batista +27 more
doaj +1 more source

