Results 1 to 10 of about 97,471 (278)

Neurofibromatosis

Pediatric Neurology Briefs, 1987
LINK (Let’s Increase Neurofibromatosis Knowledge), the British Neurofibromatosis Association, organised a major European Symposium at Egham, Surrey, Feb 5-7, 1987, and clarified the distinguishing features of two syndromes with separate genetic markers ...
J Gordon Millichap
doaj   +5 more sources

Genetically engineered minipigs model the major clinical features of human neurofibromatosis type 1. [PDF]

Communications Biology, 2018
Neurofibromatosis Type 1 (NF1) is a genetic disease caused by mutations in Neurofibromin 1 (NF1). NF1 patients present with a variety of clinical manifestations and are predisposed to cancer development.
Carlson, Daniel F, Coutts, Alexander W, Dahiya, Sonika, Dombi, Eva, Fahrenkrug, Scott C, Fisher, James, Giovannini, Marco, Gutmann, David H, Isakson, Sara H, Kirstein, Mark N, Largaespada, David A, Messiaen, Ludwine, Moertel, Christopher L, Pluhar, G Elizabeth, Ratner, Nancy, Rizvi, Tilat, Rizzardi, Anthony E, Stemmer-Rachamimov, Anat O, Vitte, Jeremie, Watson, Adrienne L, Widemann, Brigitte C, Williams, Kyle B   +21 more
core   +3 more sources

Healthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada [PDF]

Orphanet Journal of Rare Diseases
Background and objectives Neurofibromatosis type 1 (NF1) is a multisystemic disease, characterized by cutaneous manifestations and peripheral nerve sheath tumors.
Ajith Sivadasan, Alejandro Hernandez, Elisa Candido, Patricia C. Parkin, Karen Tu, Meg Mendoza, Carolina Barnett-Tapia   +6 more
doaj   +2 more sources

A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report [PDF]

Journal of Medical Case Reports
Background Neurofibromatosis type 1 is an autosomal dominantly inherited disorder caused by pathogenic variants in the neurofibromatosis type 1 gene, resulting in a predisposition to multiple tumors.
Tabea I. Hartung, Qais Karimi, Lan Kluwe, Said C. Farschtschi   +3 more
doaj   +2 more sources

Neurofibromatosis [PDF]

Cancers, 2020
In this Special Issue of Cancer, a series of 10 papers (seven papers, three reviews) on Neurofibromatosis is presented by international leaders in this field of research [...]
Hovinga, Koos E., Temel, Yasin
openaire   +3 more sources

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation

Genetics in Medicine, 2021
By incorporating major developments in genetics, ophthalmology, dermatology, and neuroimaging, to revise the diagnostic criteria for neurofibromatosis type 1 (NF1) and to establish diagnostic criteria for Legius syndrome (LGSS).
E. Legius, L. Messiaen, P. Wolkenstein, Patrice Pancza, R. Avery, Y. Berman, J. Blakeley, D. Babovic‐Vuksanovic, K. Cunha, R. Ferner, Michael Fisher, J. Friedman, D. Gutmann, H. Kehrer-Sawatzki, B. Korf, V. Mautner, S. Peltonen, K. Rauen, V. Riccardi, E. Schorry, A. Stemmer-Rachamimov, D. Stevenson, G. Tadini, N. Ullrich, D. Viskochil, K. Wimmer, K. Yohay, S. Huson, D. Evans, S. Plotkin   +29 more
semanticscholar   +1 more source

Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis

International Journal of Molecular Sciences, 2021
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones.
R. Tamura
semanticscholar   +1 more source

Management of Neurofibromatosis Type 1-Associated Plexiform Neurofibromas.

Neuro-Oncology, 2022
Plexiform Neurofibromas (PN) are a common manifestation of the genetic disorder neurofibromatosis type 1 (NF1). These benign nerve sheath tumors often cause significant morbidity, with treatment options limited historically to surgery.
Michael Fisher, J. Blakeley, B. Weiss, E. Dombi, S. Ahlawat, Srivandana Akshintala, A. Belzberg, M. Bornhorst, M. Bredella, W. Cai, R. Ferner, A. Gross, G. Harris, R. Listernick, Ina Ly, Staci Martin, V. Mautner, J. Salamon, K. Salerno, R. Spinner, V. Staedtke, N. Ullrich, M. Upadhyaya, P. Wolters, K. Yohay, B. Widemann   +25 more
semanticscholar   +1 more source

Comparison of Cancer Prevalence in Patients With Neurofibromatosis Type 1 at an Academic Cancer Center vs in the General Population From 1985 to 2020

JAMA Network Open, 2021
This cohort study examines the cancer prevalence and survival outcomes among patients with neurofibromatosis type 1 vs the general population.
J. Landry, Kelsey L Schertz, Y. Chiang, Angela D. Bhalla, M. Yi, E. Keung, C. Scally, B. Feig, K. Hunt, C. Roland, A. Guadagnolo, A. Bishop, A. Lazar, J. Slopis, I. McCutcheon, Keila E. Torres   +15 more
semanticscholar   +1 more source

A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1

Orphanet Journal of Rare Diseases, 2022
Background There is limited data regarding gender differences in quality of life between women and men with Neurofibromatosis type 1. We aimed to study differences in quality of life domains between women and men with Neurofibromatosis type 1 living in ...
G. Hamoy-Jimenez, H. A. Elahmar, M. Mendoza, R. H. Kim, V. Bril, C. Barnett   +5 more
doaj   +1 more source