NF2/merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations. [PDF]
OncoTarget, 2013 Inactivating germline mutations in the tumor suppressor gene NF2 cause the hereditary syndrome neurofibromatosis 2, which is characterized by the development of neoplasms of the nervous system, most notably bilateral vestibular schwannoma.
Angelo, Laura S +2 more
core +4 more sources
Neurofibromatose 2: opções de restauração auditiva Neurofibromatosis 2: hearing restoration options
Brazilian Journal of Otorhinolaryngology, 2012 Neurofibromatose 2 (NF2) é uma doença autossômica dominante que, invariavelmente, cursa com surdez. Restauração auditiva pode ser realizada por meio do implante coclear (IC) ou implante auditivo de tronco encefálico (ABI).
Tatiana Alves Monteiro +5 more
doaj +2 more sources
Neurofibromatosis 2 [Bilateral acoustic neurofibromatosis, central neurofibromatosis, NF2, neurofibromatosis type II] [PDF]
Genetics in Medicine, 2009 Neurofibromatosis 2 is a dominantly inherited tumor predisposition syndrome caused by mutations in the NF2 gene on chromosome 22. Affected individuals inevitably develop schwannomas typically affecting both vestibular nerves leading to deafness. Rehabilitation with brainstem implants is improving this outcome.
D. Evans
semanticscholar +5 more sources
Journal of Genetic Counseling, 2020 The goal of this practice resource is to provide genetic counselors and other healthcare professionals with a resource to reference when providing genetic counseling services to individuals and families undergoing evaluation for neurofibromatosis (NF) or
Heather B. Radtke +5 more
semanticscholar +1 more source
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
The Molecular Pathogenesis, Diagnostic Criteria, Symptoms, Clinical Manifestations, and Gene-Based Therapeutic Approaches in Neurofibromatosis [PDF]
مجله دانشگاه علوم پزشکی گرگان, 2023 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
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
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
International Journal of Clinical Practice, 2003 SUMMARYNeurofibromatosis type 2 (NF2) is often not recognised as a distinct entity from peripheral neurofibromatosis. NF2 is a predominantly intracranial condition whose hallmark is bilateral vestibular schwannomas. NF2 results from a mutation in the gene named merlin, located on chromosome 22.
S, Uppal, A P, Coatesworth
openaire +2 more sources
Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management [PDF]
, 2015 Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of
Abdolrahimzadeh, Solmaz +5 more
core +3 more sources