Results 11 to 20 of about 4,213 (222)

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 ...
Afridi, Shazia, Axon, Patrick, Bowers, Naomi, Burghel, George, Buttimore, Juliette, Evans, D Gareth, Forde, Claire, Freeman, Simon, Halliday, Dorothy, Halliday, Jane, King, Andrew, Laitt, Roger, Lavin, Tim, Lloyd, Simon, Obholzer, Rupert, Parry, Allyson, Pathmanaban, Omar, Roberts, Nicola, Rutherford, Scott A, Smith, Miriam J, Stivaros, Stavros, Thomas, Owen, Vassallo, Grace   +22 more
core   +8 more sources

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation [PDF]

Genetics in Medicine, 2022
PURPOSE: Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes.
et al.,, Gutmann, David H, Plotkin, Scott R   +2 more
core   +6 more sources

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

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   +3 more sources

Clinical characterization of neuropathic pain and small fiber impairment in neurofibromatosis [PDF]

PAIN Reports
. Introduction:. Pain is an often underestimated symptom in patients with neurofibromatosis (NF) and schwannomatosis (SWN), yet it may have a profound impact on health-related quality of life. Objective:. To assess the characteristics of neuropathic pain
Eva Meller, Annsophie Amann, Rayaz A. Malik, Daniel Kampik, Cordula Matthies, Nurcan Üçeyler   +5 more
doaj   +2 more sources

Quantitative assessment of whole-body tumor burden in adult patients with neurofibromatosis. [PDF]

PLoS ONE, 2012
Patients with neurofibromatosis 1 (NF1), NF2, and schwannomatosis are at risk for multiple nerve sheath tumors and premature mortality. Traditional magnetic resonance imaging (MRI) has limited ability to assess disease burden accurately.
Scott R Plotkin, Miriam A Bredella, Wenli Cai, Ara Kassarjian, Gordon J Harris, Sonia Esparza, Vanessa L Merker, Lance L Munn, Alona Muzikansky, Manor Askenazi, Rosa Nguyen, Ralph Wenzel, Victor F Mautner   +12 more
doaj   +5 more sources

A single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations [PDF]

Genome Medicine
Background Schwannomas are nerve sheath tumors arising at cranial and peripheral nerves, either sporadically or in patients with a schwannomatosis-predisposition syndrome. There is limited understanding of the transcriptional heterogeneity of schwannomas
L. Nicolas Gonzalez Castro, Avishai Gavish, Lillian Bussema, Christopher W. Mount, Cyril Neftel, Masashi Nomura, E. Antonio Chiocca, Wenya Linda Bi, Omar Arnaout, Fred G. Barker, Justin M. Brown, Justin T. Jordan, Tracy T. Batchelor, Anat Stemmer-Rachamimov, Scott R. Plotkin, Itay Tirosh, Mario L. Suvà   +16 more
doaj   +2 more sources

Optimal Delivery of Pain Management in Schwannomatosis: A Literature Review [PDF]

Therapeutics and Clinical Risk Management
Utaro Hino,1 Ryota Tamura,2 Masahiro Toda2 1Department of Neurosurgery, Saiseikai Yokohamashi Tobu Hospital, Kanagawa, Japan; 2Department of Neurosurgery, Keio University School of Medicine, Tokyo, JapanCorrespondence: Ryota Tamura, Department of ...
Hino U, Tamura R, Toda M
doaj   +2 more sources

Trigeminal Neuralgia with Persistent Trigeminal Artery Variant and Schwannomatosis of the Abducens and Lower Cranial Nerves: A Case Report [PDF]

Journal of the Korean Society of Radiology
Multiple cranial neuropathies are complex neurological disorders that present significant treatment challenges due to their intricate and multifaceted underlying causes.
Seong Gwang Kim, Hye Jeong Choi, Kyung Gi Cho, Jung Youn Kim, Sang Heum Kim   +4 more
doaj   +2 more sources

Clinical severity grading of NF2-related schwannomatosis

Orphanet Journal of Rare Diseases
Background NF2-related schwannomatosis (NF2) is associated with various tumors of the central and peripheral nervous system. There is a wide range of disabilities these patients may suffer from and there is no validated clinical classification for ...
Anna C. Lawson McLean, Denise Löschner, Said Farschtschi, Nora F. Dengler, Steffen K. Rosahl   +4 more
doaj   +2 more sources

Schwannomatosis del pie

Medisan, 2013
Se describe el caso clínico de un paciente de 34 años de edad, quien presentaba múltiples schwannomas en el tercer ramo de bifurcación de la rama interna del nervio musculocutáneo, así como en los nervios colateral dorsal externo e interno del segundo y ...
Luis Enrique Montoya Cardero, Feliberto Blanco Trujillo, Juan Carlos Hernández González, David Alexander Junco Gelpi, Osmanis Moncada Josephs   +4 more
doaj   +1 more source