Results 31 to 40 of about 27,346,886 (339)

Craniofacial and oral alterations in patients with Neurofibromatosis 1

open access: yesOrphanet Journal of Rare Diseases, 2018
AbtsractNeurofibromatosis type 1 (NF1) is one of the most common inherited syndromes. The literature on craniofacial alterations associated with NF1 has been limited and partially contradictory.
V. Visnapuu   +4 more
semanticscholar   +1 more source

Voice characteristics in adults with neurofibromatosis type 1 [PDF]

open access: yes, 2010
Introduction and aims of the study: Change or loss of voice in patients with neurofibromatosis type 1 (NF1) has been associated with head and neck neurofibromas.
Corthals, Paul   +4 more
core   +2 more sources

Neurofibromatosis 1 and 2

open access: yesBrain Pathology, 1997
Neurofibromatosis (NF) 1 and 2 are multisystem disorders associated with a variety of neoplastic and non‐neoplastic manifestations that typically progress in severity during the lifetime of the affected patient. The importance of appropriately diagnosing these disorders stems from the fact that the natural history of an associated neoplasm, such as a ...
I F, Pollack, J J, Mulvihill
openaire   +3 more sources

Neurofibromatosis type 1 associated with papillary thyroid carcinoma incidentally detected by thyroid ultrasonography: a case report

open access: yesJournal of Medical Case Reports, 2012
Introduction Neurofibromatosis type 1 is a common heritable neurocutaneous disorder. Neurofibromatosis type 1 may be associated with tumors of the central nervous system and pheochromocytoma.
Kim Bu   +5 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

Hypervascular neurofibromas in a case of neurofibromatosis type 1: a case report [PDF]

open access: yes, 2011
Neurofibromatosis type 1 is one of the most frequently inherited diseases affecting 1:3500 newborn. The diagnosis of Neurofibromatosis type 1 is not dilemmatic because of typical clinical features.
Gogineni, Subhas Babu   +1 more
core   +1 more source

Non-optic glioma in adults and children with neurofibromatosis 1

open access: yesOrphanet Journal of Rare Diseases, 2017
BackgroundNon-optic gliomas occur in 5% of children with NF1, but little is known about these tumours in adults. We aimed to investigate progression, spontaneous regression and the natural history of non-optic gliomas in adults and compare these findings
Laura Sellmer   +7 more
semanticscholar   +1 more source

Anesthetic consideration in a preeclamptic parturient with Von Recklinghausen′s neurofibromatosis

open access: yesJournal 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

Children with 5′-end NF1 gene mutations are more likely to have glioma [PDF]

open access: yes, 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

The Role of [18F]FDG-PET/CT in Predicting Malignant Transformation of Plexiform Neurofibromas in Neurofibromatosis-1

open access: yesInternational Journal of Surgical Oncology, 2016
Background. Malignant peripheral nerve sheath tumours (MPNSTs) are difficult to diagnose and treat and contribute to significant morbidity and mortality for patients with Neurofibromatosis-1 (NF-1).
D. Tovmassian, M. Abdul Razak, K. London
semanticscholar   +1 more source

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