Results 111 to 120 of about 4,213 (222)

Typical NF2 and LTZR1 mutations are retained in an immortalized human schwann cell model of schwannomatosis [PDF]

Human SCs play a primary role in SWN, a rare genetic disorder in which patients develop multiple schwannomas. So that, their isolation and immortalization could represent an irreplaceable tool to investigate the disease etiopathology. Although few clones
Montini, Marco, Papi, Laura
core   +5 more sources

Evaluation of the role of downregulation of SNF5/INI1 core subunit of SWI/SNF complex in clear cell renal cell carcinoma development [PDF]

, 2017
Clear cell renal cell carcinoma (ccRCC) is characterized by stabilization of hypoxia-inducible factor (HIF1), and mutations in von Hippel-Lindau (VHL) gene.
Chrzan, A., Cwiek, P., Demkow, T., Galek, L., Jancewicz, I., Leszczynski, M., Ligaj, M., Maassen, Anna, Rusetska, N., Sarnowska, E.A., Sarnowski, T.J., Siedlecki, J.A., Skrodzka, M., Stachowiak, M., Steciuk, J., Szarkowska, J., Szymanski, M.   +16 more
core  

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

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

A rare case of schwannomatosis of the extremities

Journal of International Medical Research, 2020
A schwannoma is a benign tumor that arises from the myelin-producing Schwann cells that surround nerves. We herein report a case involving a 55-year-old man who first presented to our clinic with a schwannoma of the posterior tibial nerve and 5 years ...
Lucian Fodor, Sergiu Samuila, Florian Bodog   +2 more
doaj   +1 more source

Multiple primary malignancies associated with a germline SMARCB1 pathogenic variant

, 2019
A 51-year old presented with a 6-month history of increasing pelvic/lower back pain with nocturnal waking and episodes of anorexia and vomiting. Examination revealed right torticollis and Horner’s syndrome, and a large abdominal mass arising from the ...
Bowers, Naomi, Clarke, Noel, Duff, Christopher J., Ealing, John, Eelloo, Judith, Evans, D Gareth, Freemont, Tony, Hulse, Paul, Jones, Mark, Shenjere, Patrick, Smith, Miriam J, Soh, Calvin, Whitehouse, Richard, Wylie, James   +13 more
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Schwannomatosis del nervio plantar interno.

Revista Argentina de Neurocirugía, 2020
Introducción: Las Schwannomatosis Mononeurales de los Miembros son entidades muy poco frecuentes, escasamente conocidas y raramente publicadas en la bibliografía internacional, éstas se encuentran caracterizadas por la existencia de múltiples formaciones nodulares o plexiformes con compromiso exclusivo de un solo nervio, todas con diagnóstico ...
null Luis Mariano Cuello, null Leonardo Guidobono, null Betiana Arnaudin, null Carlos Llerena   +3 more
openaire   +1 more source

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

KNOWLEDGE AND SELF-ESTEEM IN INDIVIDUALS WITH NEUROFIBROMATOSIS TYPE 1 (NF1) [PDF]

, 2015
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized mainly by café-au-lait macules, Lisch nodules, as well as cutaneous and subcutaneous neurofibromas among other traits.
Vaughn, Kayla
core  

Sporadic NF2 Mosaic: Multiple spinal schwannomas presenting with severe, intractable pain following pregnancy

Interdisciplinary Neurosurgery, 2017
The aim of the present paper is to report undiagnosed sporadic neurofibromatosis type 2 presenting with symptomatic compressive spinal tumors following pregnancy.
Jeffrey H. Zimering, Bryan D. Choi, Matthew J. Koch, John C. Dewitt, Anat Stemmer-Rachamimov, John H. Shin   +5 more
doaj   +1 more source