Results 21 to 30 of about 25,453,690 (257)

Presymptomatic Diagnosis of Neurofibromatosis 2

Pediatric Neurology Briefs, 1996
The clinical spectrum of neurofibromatosis 2 (NF2) at the time of presymptomatic DNA diagnosis in at-risk first-degree relatives in five families were studied at the Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles, and the ...
J Gordon Millichap
doaj   +1 more source

Longitudinal evaluation of quality of life in 288 patients with neurofibromatosis 2

Journal of Neurology, 2014
Advances in molecular biology have resulted in novel therapy for neurofibromatosis 2-related (NF2) tumours, highlighting the need for robust outcome measures. The disease-focused NF2 impact on quality of life (NFTI-QOL) patient questionnaire was assessed
R. Ferner, A. Shaw, bullet D Gareth, Evans bullet, D. Mcaleer, bullet Dorothy, Halliday bullet, A. Parry, bullet F Lucy, Raymond bullet, J. Durie-Gair, bullet C Oliver, Hanemann bullet, R. Hornigold, bullet E Patrick, Axon bullet, J. Golding   +16 more
semanticscholar   +1 more source

Ophthalmic Manifestation in Neurofibromatosis Type 2

Applied Sciences, 2023
Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema,
Marta Armentano, Luca Lucchino, Ludovico Alisi, Antonio Valerio Chicca, Valerio Di Martino, Emanuele Miraglia, Ludovico Iannetti, Anna Maria Comberiati, Sandra Giustini, Alessandro Lambiase, Antonietta Moramarco   +10 more
doaj   +1 more source

Quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis: a systematic review of the literature

Journal of Neuro-Oncology, 2013
The aim of this study was to review the literature on quality of life among adult patients with neurofibromatosis 1, neurofibromatosis 2 and schwannomatosis, and to identify the specific aspects of quality of life that were studied and reported in this ...
A. Vranceanu, V. Merker, E. Park, S. Plotkin   +3 more
semanticscholar   +1 more source

Cystic meningioangiomatosis and cerebellar ependymoma in a child with neurofibromatosis type 2

Radiology Case Reports, 2022
We report a case of multifocal cystic meningioangiomatosis (MA), an exceptionally uncommon diagnosis even in patients with type 2 neurofibromatosis (NF2).
Austin Wheeler, MD, Katie Metrock, MD, Rong Li, MD, Sumit Singh, MD   +3 more
doaj   +1 more source

NF2/Merlin in hereditary neurofibromatosis 2 versus cancer: biologic mechanisms and clinical associations

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.
R. Schroeder, L. S. Angelo, R. Kurzrock
semanticscholar   +1 more source

Multiple spinal schwannomas in absence of neurofibromatosis (Schwannomatosis) – A rare condition: Review with case report

Indian Spine Journal, 2019
Schwannomas are benign, slow-growing tumors originating from sensory rootlets. Schwannomatosis is a distinct clinical syndrome characterized by the presence of multiple schwannomas in the spine with the absence of typical features suggestive of either ...
Sandeep Bhardwaj, Kunj Bihari Saraswat, Amit Pratap Singh Deora, Ashok Gupta   +3 more
doaj   +1 more source

Psychiatric symptoms in neurofibromatosis type 2

European Psychiatry, 2021
Introduction Neurofibromatosis type 2 (NF2) is a rare disorder associated with significant morbidity such as hearing loss that can lead to many psychiatric disorders. Objectives Describe the psychiatric symptoms associated to NF2. Methods We report
S. Khouadja, R. Melki, S. Younes, L. Zarrouk   +3 more
doaj   +1 more source

Mapping the Genetic Landscape of Neurofibromatosis: Insights from a Multi-Generational Family Study

Journal of Indian Academy of Oral Medicine and Radiology
Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant condition resulting from mutations in the NF1 tumor suppressor gene. Affected individuals exhibit pigmentary changes, including café-au-lait macules, skinfold freckling, and Lisch ...
Praveen Kumar Neela, BV Rajeshwari, Anulekha Avinash, Avinash Tejasvi, Vasavi Mohan, Shahistha Parveen   +5 more
doaj   +1 more source

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +1 more source