Results 61 to 70 of about 1,956 (168)

LZTR1 loss-of-function variants associated with café au lait macules with or without freckling

Frontiers in Neurology
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.
Svea Horn, Svea Horn, Teresa Neuhann, Corina Hennig, Angela Abad-Perez, Eva-Christina Prott, Lisa Cardellini, Lisa Cardellini, Cornelia Potratz, Cornelia Potratz, Jonas Leubner, Jonas Leubner, Birgit Eichhorn, Martin Merkel, Angela Abicht, Angela M. Kaindl, Angela M. Kaindl, Angela M. Kaindl   +17 more
doaj   +1 more source

Comprehensive Genetic Analysis of NF2 in Sporadic Vestibular Schwannoma

Laryngoscope Investigative Otolaryngology, Volume 10, Issue 5, October 2025.
Comprehensive genetic analyses, including whole‐exome sequencing, methylation analysis, and MLPA, are essential for accurately identifying NF2 inactivation mechanisms in sporadic vestibular schwannomas. The findings suggest that NF2 methylation may contribute to variations in clinical presentation.
Takeshi Wakabayashi, Koichiro Wasano, Kohei Nakamura, Makoto Hosoya, Ryutaro Kawano, Reika Takamatsu, Masafumi Ueno, Marie N. Shimanuki, Nobuyoshi Tsuzuki, Takanori Nishiyama, Takenori Akiyama, Masahiro Toda, Hiroshi Nishihara, Hiroyuki Ozawa, Naoki Oishi   +14 more
wiley   +1 more source

Simple schwannomatosis or an incomplete Coffin-Siris? Report of a particular case

eNeurologicalSci, 2019
Background: Schwannomatosis is a genetic disorder that belongs to NF family. The mutation of SMARCB1 gene has been related to this entity and Coffin-Siris syndrome, as well. We reported a case of a female patient with SMARCB1 mutation who has developed a
G. Bellantoni, F. Guerrini, M. Del Maestro, R. Galzio, S. Luzzi   +4 more
doaj   +1 more source

Visual outcome including visual field defects after treatment of paediatric optic pathway glioma: A nationwide cohort study

Acta Ophthalmologica, Volume 103, Issue 6, Page 662-673, September 2025.
Abstract Purpose To examine long‐term visual impairment and visual field examination (VF) after diverse treatments for paediatric optic pathway glioma (OPG), and to determine prognostic factors for long‐term severe visual impairment or blindness. Methods A nationwide retrospective cohort study (1995–2018) was performed on paediatric OPGs that received ...
C. A. M. Bennebroek, J. van Zwol, M. C. Montauban van Swijndregt, S. E. Loudon, A. L. W. Groot, N. J. C. Bauer, J. W. Pott, I. C. Notting, A. J. van Sorge, M. M. van Genderen, P. de Graaf, A. Y. N. Schouten‐van Meeteren, P. Saeed, G. L. Porro   +13 more
wiley   +1 more source

Schwannomatosis: a genetic and epidemiological study

Journal of Neurology, Neurosurgery & Psychiatry, 2018
ObjectivesSchwannomatosis is a dominantly inherited condition predisposing to schwannomas of mainly spinal and peripheral nerves with some diagnostic overlap with neurofibromatosis-2 (NF2), but the underlying epidemiology is poorly understood. We present the birth incidence and prevalence allowing for overlap with NF2.MethodsSchwannomatosis and NF2 ...
D Gareth Evans, Naomi L Bowers, Simon Tobi, Claire Hartley, Andrew J Wallace, Andrew T King, Simon K W Lloyd, Scott A Rutherford, Charlotte Hammerbeck-Ward, Omar N Pathmanaban, Simon R Freeman, John Ealing, Mark Kellett, Roger Laitt, Owen Thomas, Dorothy Halliday, Rosalie Ferner, Amy Taylor, Chris Duff, Elaine F Harkness, Miriam J Smith   +20 more
openaire   +4 more sources

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study

Journal of Medical Genetics
Objectives New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling).
Claire Forde, Miriam J Smith, George J Burghel, Naomi Bowers, Nicola Roberts, Tim Lavin, Jane Halliday, Andrew Thomas King, Scott Rutherford, Omar N Pathmanaban, Simon Lloyd, Simon Freeman, Dorothy Halliday, Allyson Parry, Patrick Axon, Juliette Buttimore, Shazia Afridi, Rupert Obholzer, Roger Laitt, Owen Thomas, Stavros Michael Stivaros, Grace Vassallo, D Gareth Evans   +22 more
openaire   +4 more sources

Schwannomatosis [PDF]

Neurology, 2008
Alexey, Surov, Malte, Kornhuber, Curd, Behrmann   +2 more
openaire   +2 more sources

18F-FDG PET/CT revealed sporadic schwannomatosis involving the lumbar spinal canal and both lower limbs: a case report

Frontiers in Medicine
Schwannomatosis is a rare autosomal dominant hereditary syndrome disease characterized by multiple schwannomas throughout the body, without bilateral vestibular schwannoma or dermal schwannoma.
Xiaotian Li, Xiaotian Li, Xianwen Hu, Pan Wang, Jiong Cai   +4 more
doaj   +1 more source

ENDOSCOPIC TREATMENT OF THORACIC SCHWANNOMATOSIS: A CASE REPORT [PDF]

Coluna/Columna
Schwannomatosis, also known as neurofibromatosis type III, is a rare condition characterized by the development of multiple schwannomas along peripheral nerve sheaths.
Ramon Venzon Ferreira, Diogo Martins Maldonado, Kelsen de Oliveira Teixeira, Cesar Luiz Bertonha, Esthael Cristina Querido Avelar Bergamaschi, Leonardo Ribeiro Nascimento, Sonja Ellen Lobo, João Paulo Machado Bergamaschi   +7 more
doaj   +2 more sources

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis

BMC Health Services Research, 2018
Background Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and ...
Vanessa L. Merker, Annie Dai, Heather B. Radtke, Pamela Knight, Justin T. Jordan, Scott R. Plotkin   +5 more
doaj   +1 more source