Results 31 to 40 of about 29,473,219 (216)
Neurofibromatosis segmentaria, a propósito de un caso
, 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
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Mechanisms of hearing loss in neurofibromatosis type 2. [PDF]
PLoS ONE, 2012 Patients with neurofibromatosis type 2 (NF2) develop bilateral cochleovestibular schwannomas (CVSs) that cause binaural deafness in most individuals. Hearing loss occurs in an unpredictable manner and the underlying mechanisms are not known.
Ashok R Asthagiri +9 more
doaj +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
Neurofibromatosis: Types 1 and 2 [PDF]
American Journal of Neuroradiology, 2013 Neurofibromatosis types 1 and 2 are a group of neurocutaneous syndromes resulting from disorders in cell regulation. Despite sharing a common name, neurofibromatosis types 1 and 2 are quite distinct phakomatoses, both clinically and genetically.
S, Borofsky, L M, Levy
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A case of familial neurofibromatosis in pediatric practice
Alʹmanah Kliničeskoj Mediciny, 2018 The article describes a clinical case of familial neurofibromatosis. Neurofibromatosis type 1 was diagnosed in a 9-year old patient according to diagnostic criteria by the International Expert Committee on Neurofibromatosis, based on two criteria: 2 or
N. I. Zryachkin +3 more
doaj +1 more source
iScience, 2022 Summary: Neurofibromatosis type 2 is an autosomal dominant multiple neoplasia syndrome and is usually caused by mutations in the neurofibromin 2 (NF2) gene, which encodes a tumor suppressor and initiates the Hippo pathway. However, the mechanism by which
Zexiao Jia +18 more
doaj +1 more source
Complete pain relief after bevacizumab in a patient with neurofibromatosis type 2 [PDF]
, 2015 Complete pain relief after bevacizumab in a patient with neurofibromatosis type
Attila Kollár (837642) +7 more
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, 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
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Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis
Journal of Obstetric Anaesthesia and Critical Care, 2014 Neurofibromatosis is a multisystem genetic disorder that is associated with cutaneous, neurologic and orthopedic manifestations. Type 1 neurofibromatosis is characterized by dermatological lesions, such as benign neurofibromas of the skin and cafι-au ...
Tarandeep Singh +4 more
doaj +1 more source