Results 81 to 90 of about 3,249 (205)

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

Creation of an international registry to support discovery in schwannomatosis [PDF]

, 2016
Schwannomatosis is a tumor suppressor syndrome that causes multiple tumors along peripheral nerves. Formal diagnostic criteria were first published in 2005.
Belzberg, A J, Bergner, A L, Blakeley, J, Evans, Gareth, Ferner, R, Friedman, J M, Harris, G J, Jordan, J T, Korf, B, Langmead, S, Leschziner, G, Mautner, V, Merker, V L, Ostrow, K L, Papi, L, Plotkin, S R, Slopis, J M, Smith, Miriam J, Stemmer-Rachamimov, A, Yohay, K   +19 more
core   +2 more sources

LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis

BMC Medical Genomics, 2022
Background Noonan syndrome (NS) is a genetic disorder characterized by developmental delays, typical facial gestalt and cardiovascular defects. LZTR1 variants have been recently described in patients with NS and schwannomatosis, but the association ...
Kirsten M. Farncombe, Emily Thain, Carolina Barnett-Tapia, Hamid Sadeghian, Raymond H. Kim   +4 more
doaj   +1 more source

Pseudoglandular Schwannoma With FUS::KLF17 Fusion: Broadening the Spectrum of FUS‐Associated Tumors

Genes, Chromosomes and Cancer, Volume 64, Issue 8, August 2025.
ABSTRACT We present a case of a 51‐year‐old male with a pseudoglandular cellular schwannoma arising from the brachial plexus, which contains the expected molecular aberrations for a schwannoma (chromosome 22q loss encompassing the NF2 and LZTR1 genes) as well as a FUS::KLF17 rearrangement.
Jerome Givi, Daisy Wu, Rania Bakkar, Michelle Afkhami, Diana Bell   +4 more
wiley   +1 more source

Fatal Tension Hemothorax Combined with Exanguination: A Rare Complication of Neurofibromatosis [PDF]

, 2019
Neurofibromatosis (NF) is a common autosomal dominant disorder that can be subdivided into type 1, type 2, and schwannomatosis. Patients with NF1 typically develop café-au-lait spots, scoliosis, and benign neurofibromas.
Bidad, Roz, Blohm, Eike, Hall, Caroline
core  

Changes in multi‐gene cancer panels for children: A 4‐year retrospective review

Journal of Genetic Counseling, Volume 34, Issue 4, August 2025.
Abstract The multi‐gene panel is the most utilized genetic test to evaluate for germline cancer predisposition syndromes. However, the rate of change of commercial multigene panels is not well understood, and its value as a standalone test has also not been investigated.
Elise G. Williams, Elena Kessler, Kristine L. Cooper, Andrea Durst, Julia Meade   +4 more
wiley   +1 more source

Malignant Rhabdoid Tumors of Cranial Nerves—A Clinically Distinct Group With Characteristic Neuroradiological, Histopathological, and Molecular Features

Pediatric Blood &Cancer, Volume 72, Issue 8, August 2025.
ABSTRACT Background Malignant rhabdoid tumors occasionally develop along cranial nerves, but clinical, histopathological, and molecular features have not been examined in larger series. Procedure We retrospectively interrogated data from the European Rhabdoid Registry, EU‐RHAB, to identify malignant rhabdoid tumors affecting cranial nerves.
Miriam Gruhle, Brigitte Bison, Katharina Gastberger, Pascal D. Johann, Irene Teichert von Lüttichau, Marc Steinborn, Stephan Tippelt, Gudrun Fleischhack, Thomas Lehrnbecher, Reiner Siebert, Stefanie E. Tüchert‐Knoll, Patrick Melchior, Christian Vokuhl, Wolfgang Hartmann, Martin Hasselblatt, Michael C. Frühwald   +15 more
wiley   +1 more source

Quality of Life Outcomes in Vestibular Schwannoma: A Prospective Analysis of Treatment Modalities

The Laryngoscope, Volume 135, Issue 7, Page 2529-2537, July 2025.
One of the first prospective cohort studies looks at quality of life (QOL) outcomes for the three main treatment modalities for vestibular schwannoma. In our study, we found comparable long‐term disease‐specific QOL outcomes, which will allow clinicians to more accurately counsel patients before making life‐changing treatment decisions.
A. Hotchkies, E. Heward, A. Wadeson, C. Heal, S. R. Freeman, S. A. Rutherford, A. T. King, O. Pathmanaban, J. Halliday, G. Whitfield, C. McBain, R. J. Colaco, T. Campbell, S. J. Goh, S. K. W. Lloyd   +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

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