Zobrazeno 1 - 10
of 1 305
pro vyhledávání: '"Schwannomatosis"'
Publikováno v:
Romanian Neurosurgery, Vol 38, Iss 3 (2024)
Schwannomatosis is characterized by a predisposition to develop multiple schwannomas and rarely meningiomas. People with schwannomatosis are most commonly present between the second and fourth decades of life. The most common feature is localized or
Externí odkaz:
https://doaj.org/article/df8a8a623efe43bdae31ca9a370cf875
Publikováno v:
Neurologia Medico-Chirurgica, Vol 64, Iss 8, Pp 299-308 (2024)
NF2-related schwannomatosis (NF2; previously termed neurofibromatosis type 2) is a tumor-prone disorder characterized by development of multiple schwannomas and meningiomas. The diagnostic criteria of NF2 have been regularly revised. Clinical criteri
Externí odkaz:
https://doaj.org/article/5097e61d6ca34404ae295417afc1ed15
Publikováno v:
Case Reports in Neurology, Vol 16, Iss 1, Pp 221-225 (2024)
Introduction: NF2-related schwannomatosis (NF2) is a rare inheritable autosomal dominant disorder characterized by multiple nervous system neoplasms. Case Presentation: In this report, we present a rare case of NF2 exhibiting the complete constellati
Externí odkaz:
https://doaj.org/article/44782efe2f5b41bf9686607b8dc237e1
Autor:
Masaki Ibe, Shinobu Tamura, Hideki Kosako, Yusuke Yamashita, Masamichi Ishii, Masaoh Tanaka, Hiroyuki Mishima, Akira Kinoshita, Sadahiro Iwabuchi, Shuhei Morita, Ko-ichiro Yoshiura, Shinichi Hashimoto, Naoyuki Nakao, Shigeaki Inoue
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101107- (2024)
Schwannomatosis (SWN) is a rare genetic condition characterized by the risk of developing multiple benign peripheral nerve sheath tumors; however, the risk of developing malignant tumors in patients with SWN remains unclear. This study described the
Externí odkaz:
https://doaj.org/article/d6bb4a2d41504e64bfdb214d0388fb23
Publikováno v:
Oncology and Therapy, Vol 12, Iss 2, Pp 257-276 (2024)
Abstract Neurofibromatosis type 2 (NF2)-related schwannomatosis is a rare autosomal dominant monogenic disorder caused by mutations in the NF2 gene. The hallmarks of NF2-related schwannomatosis are bilateral vestibular schwannomas (VS). The current t
Externí odkaz:
https://doaj.org/article/736d80d3ef214f89ab11c788923a87b8
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-8 (2024)
Abstract NF2-related schwannomatosis (NF2-SWN) is a rare genetic disorder and is associated with progressive morbidities. This study aimed to investigate the relationship between NF2-SWN disease severity, health-related Quality of Life (QoL), and men
Externí odkaz:
https://doaj.org/article/67182173c8a34640926318ca0e2fd7b6
Autor:
Svea Horn, Teresa Neuhann, Corina Hennig, Angela Abad-Perez, Eva-Christina Prott, Lisa Cardellini, Cornelia Potratz, Jonas Leubner, Birgit Eichhorn, Martin Merkel, Angela Abicht, Angela M. Kaindl
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Pathogenic variants in the leucine zipper-like transcriptional regulator 1 gene (LZTR1) have been identified in schwannomatosis and Noonan syndrome. Here, we expand the phenotype spectrum of LZTR1 variants. We identified four loss-of-function heteroz
Externí odkaz:
https://doaj.org/article/6dc50f93fd83419a92eba922b125fbf9
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma. The most common location of schwannomatosis is the head
Externí odkaz:
https://doaj.org/article/42ebf52c6f62409898d50cda8cfbea2f
Akademický článek
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Autor:
Bae-Hoon Kim, Yeon-Ho Chung, Tae-Gyun Woo, So-mi Kang, Soyoung Park, Minju Kim, Bum-Joon Park
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6558 (2024)
NF2-related schwannomatosis (NF2) is a genetic syndrome characterized by the growth of benign tumors in the nervous system, particularly bilateral vestibular schwannomas, meningiomas, and ependymomas. This review consolidates the current knowledge on
Externí odkaz:
https://doaj.org/article/77cd7e3fae6c4312bedf834a0069d716