Results 21 to 30 of about 32,341 (221)

Neurofibromatosis Type 2 Involving the Brain and Spinal Cord

Вестник рентгенологии и радиологии, 2021
Neurofibromatosis type 2 is a rare genetic disease that occurs with a frequency of approximately 1 in 50,000 newborns and is characterized by benign tumors, mainly bilateral schwannomas of the VIII cranial nerve.
O. A. Staroseltseva, N. V. Nudnov, M. L. Radutnaya, I. G. Shchelkunova, A. A. Yakovlev, A. N. Vorobyev, A. N. Kirchin   +6 more
doaj   +1 more source

NEUROFIBROMATOSIS TYPE 2

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

Presenting Symptoms of Neurofibromatosis Type 2

Pediatric Neurology Briefs, 1999
The frequency and mode of presentation of neurofibromatosis type 2 (NF2) was investigated at St Mary’s Hospital, the Royal Manchester Children’s Hospital, and the Manchester Royal Infirmary, Manchester, UK.
J Gordon Millichap
doaj   +1 more source

A novel NF2 splicing mutant causes neurofibromatosis type 2 via liquid-liquid phase separation with large tumor suppressor and Hippo pathway

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, Shuxu Yang, Mengyao Li, Zhaoying Lei, Xue Ding, Mingjie Fan, Dixian Wang, Dajiang Xie, Hui Zhou, Yue Qiu, Qianqian Zhuang, Dan Li, Wei Yang, Xuchen Qi, Xiaohui Cang, Jing-Wei Zhao, Wenqi Wang, Aifu Lin, Qingfeng Yan   +18 more
doaj   +1 more source

Anaesthetic Management of a Child with Neurofibromatosis Type 2 for Multiple Tumour Decompressions [PDF]

Journal of Clinical and Diagnostic Research, 2013
Neurofibromatosis type 2 is a genetic disorder with autosomal dominant pattern. It can manifest as intracranial, spinal, ocular and cutaneous lesions. The lesions can extend to all the systems.
Geetha Lakshiminarasimhaiah, Aniruddha Thekkatte Jagannatha, Kulyadi Raghavendra Pai, Ravi Gopal Varma, Alangar Satyaranjandas Hegde   +4 more
doaj   +1 more source

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, T. N. Buchkova, G. I. Chebotareva, N. B. Styazhkina   +3 more
doaj   +1 more source

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, Sarla Hooda, Asha Anand, Kiranpreet Kaur, Renu Bala   +4 more
doaj   +1 more source

Neurofibromatosis Type 2: A Pandora’s Box of Variable Presentations

Indian Journal of Neurosurgery, 2022
Introduction Neurofibromatosis type 2 (NF2) also known as MISME syndrome stands for multiple inherited schwannomas, meningiomas, and ependymomas in the peripheral and central nervous system.
Ashok Gandhi, Swarup Sohan Gandhi, Surendra Jain, Shashikant Jain, Paresh Sukhani   +4 more
doaj   +1 more source

NFS-28. CLINICAL CHARACTERISTICS AND THERAPEUTIC INTERVENTIONS IN A CASE SERIES OF PEDIATRIC PATIENTS WITH VESTIBULAR SCHWANNOMAS AND NEUROFIBROMATOSIS TYPE 2 [PDF]

Neuro Oncol
Lea Stitzlein, Yusha Y Sun, Faryal Munir, Ian E. McCutcheon, John M. Slopis, Wafik Zaky   +5 more
europepmc   +3 more sources

Tongue schwannomas associated with neurofibromatosis type 2

Oral and Maxillofacial Surgery Cases, 2018
Schwannomas are typically solitary benign neural tumors; however, multiple lesions associated with the rare genetic disorder neurofibromatosis type 2 (NF2) have been reported in some cases.
Harusachi Kanazawa, Hirotaka Sawai, Akihiro Kita, Nao Koide, Masanobu Yamatoji, Atsusi Kasamatsu, Katsuhiro Uzawa   +6 more
doaj   +1 more source