نتایج جستجو برای: neurofibromatosis nf2

تعداد نتایج: 7346  

2012
Sara Marzi Danilo De Paulis Alessandro Ricci Graziano Taddei Soheila Raysi Dehcordi Gino Coletti Giuliano Maselli Renato J. Galzio

Meningioangiomatosis (MA) is a rare, benign hamartomatous lesion found in cerebral cortex and leptomeninges. It occurs mostly in 5 - 15 year old children in form isolated or diffuse; the diffuse form may be associated with neurofibromatosis type 2 (NF2). The sporadic type in the adults is less common.The patient was a 37 year-old man with a long history of frontal headache. In suspected sinusit...

2013
Alessandro Landi Eugenio Dugoni Roberto Delfini

Schwannomas are encapsulated and slow grooving benign peripheral nerve tumors. They represent about one third of all benign primary spinal tumors. Most schwannomas occur as isolated lesions, but it could be possible to find a multiple localization involving one or more nerves. The presence of multiple schwannomas in a single patient is suggestive of a genetic predisposition to tumorigenesis and...

2012
Lucas B. Murray Ying-Ka Ingar Lau Qin Yu

Merlin is encoded by the neurofibromatosis type 2 (NF2) gene and is a member of the Band 4.1 protein family. This protein acts as a linker that connects cell surface proteins to the actin cytoskeleton. Defects caused by mutations of the NF2 gene give rise to NF2 disease, which is generally characterized by the formation of bilateral vestibular schwannomas and, to a lesser extent, meningiomas an...

Journal: :Arquivos de neuro-psiquiatria 2014
Luiz Oswaldo Carneiro Rodrigues Pollyanna Barros Batista Eny Maria Goloni-Bertollo Danielle de Souza-Costa Lucas Eliam Miguel Eliam Karin Soares Gonçalves Cunha Luiz Guilherme Darrigo-Junior José Roberto Lopes Ferraz-Filho Mauro Geller Ingrid F Gianordoli-Nascimento Luciana Gonçalves Madeira Leandro Fernandes Malloy-Diniz Hérika Martins Mendes Débora Marques de Miranda Erika Cristina Pavarino Luciana Baptista-Pereira Nilton A Rezende Luíza de Oliveira Rodrigues Carla Menezes da Silva Juliana Ferreira de Souza Márcio Leandro Ribeiro de Souza Aline Stangherlin Eugênia Ribeiro Valadares Paula Vieira Teixeira Vidigal

Neurofibromatoses (NF) are a group of genetic multiple tumor growing predisposition diseases: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH), which have in common the neural origin of tumors and cutaneous signs. They affect nearly 80 thousand of Brazilians. In recent years, the increased scientific knowledge on NF has allowed better clinical management ...

Journal: :Neuro-oncology 2011
Matthew L Bush Janet Oblinger Victoria Brendel Griffin Santarelli Jie Huang Elena M Akhmametyeva Sarah S Burns Justin Wheeler Jeremy Davis Charles W Yates Abhik R Chaudhury Samuel Kulp Ching-Shih Chen Long-Sheng Chang D Bradley Welling Abraham Jacob

Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease that results in the formation of bilateral vestibular schwannomas (VSs) and multiple meningiomas. Treatment options for NF2-associated tumors are limited, and to date, no medical therapies are FDA approved. The ideal chemotherapeutic agent would inhibit both VS and meningiomas simultaneously. The objectives of this study are (1) to...

Journal: :Neuro-oncology 2022

Abstract Neurofibromatosis type 2 (NF2) predisposes affected individuals to vestibular schwannomas (VS), non-vestibular (NVS), meningiomas, and ependymomas. We developed an adaptive platform-basket trial screen multiple drugs against any of progressive NF2-related tumor. report the interim analysis first treatment arm with brigatinib, ALK inhibitor that inhibits tyrosine kinases. conducted a mu...

Journal: :Human molecular genetics 1999
B Schmucker Y Tang M Kressel

We cloned novel splice variants Mer150, Mer151 and Mer162 of the neurofibromatosis 2 (NF2) tumor suppressor, which demonstrate a tissue-specific and development-specific expression pattern. Isoform Mer150 is created by cryptic splicing from exon 8 to 14 and represents an N-terminal truncation of 259 residues. Mer151 is characterized by in-frame splicing out of several exons and a modified C-ter...

2012
Ashok R. Asthagiri Raul A. Vasquez John A. Butman Tianxia Wu Keaton Morgan Carmen C. Brewer Kelly King Chris Zalewski H. Jeffrey Kim Russell R. Lonser

INTRODUCTION 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. To gain insight into the pathophysiologic basis for hearing loss in NF2, we performed a prospective cross-sectional study of untreated ears in...

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