Results 21 to 30 of about 97,471 (278)
European Journal of Medical Research, 2009 Neurofibromatosis (NF) is one of the most common genetic disorders. Inherited in an autosomal dominant fashion, this phacomatosis is classified into two genetically distinct subtypes characterized by multiple cutaneous lesions and tumors of the peripheral and central nervous system.
Gerber PA +7 more
openaire +3 more sources
Understanding intellectual disability through RASopathies [PDF]
, 2014 Intellectual disability, commonly known as mental retardation in the International Classification of Disease from World Health Organization, is the term that describes an intellectual and adaptive cognitive disability that begins in early life during the
Pagani, Mario Rafael +1 more
core +1 more source
Gender dimorphism and age of onset in malignant peripheral nerve sheath tumor preclinical models and human patients. [PDF]
, 2014 BackgroundGender-based differences in disease onset in murine models of malignant peripheral nerve sheath tumor (MPNST) and in patients with Neurofibromatosis type-1-(NF-1)-associated or spontaneous MPNST has not been well studied.MethodsForty-three ...
Dry, Sarah M +10 more
core +2 more sources
Segmental Neurofibromatosis [PDF]
Journal of Neurosciences in Rural Practice, 2021 Abstract Segmental neurofibromas are the rarest variant of neurofibromatosis. We describe one such case in a 34-year-old man with multiple subcutaneous swellings in the posterior aspect of the left lower limb.
Raju, Dimble +3 more
openaire +2 more sources
Human Pathology Reports, 2022 Neurofibromas of the large bowel are very rare and usually observed in the colonic region in neurofibromatosis type 1 (Von Recklinghausen’s disease).
Mukund Tinguria
doaj +1 more source
Neuronavigational approach for orbital neurofibroma excision: a case report [PDF]
, 2015 Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires ...
CASCONE, PIERO +5 more
core +1 more source
Health Supervision for Children With Neurofibromatosis Type 1
Pediatrics, 2019 Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000.
David T. Miller +5 more
semanticscholar +1 more source
An update on the CNS manifestations of neurofibromatosis type 2
Acta Neuropathologica, 2019 Neurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in the NF2 gene on chromosome 22, with resultant dysfunction of its ...
S. Coy +3 more
semanticscholar +1 more source
Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]
, 2017 Objective:To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1).Methods:The relationship between the type and location of the germline NF1 mutation and the presence of ...
Anastasaki, Corina +3 more
core +2 more sources
Frontiers in Neurology, 2018 Background and Purpose: Neurofibromatosis Type 2 (NF2) is an autosomal-dominant tumor-prone disorder characterized by the manifestations of central nervous system lesions.
Isabel Gugel +10 more
doaj +1 more source