Schwannomatosis
What's New
Last Posted: Jul 07, 2023
- Radiogenomics in NF2-Associated Schwannomatosis (Neurofibromatosis Type II): Exploratory Data Analysis.
Gleb Danilov, et al. Studies in health technology and informatics 2023 0 588-591 - Effect of Mind-Body Skills Training on Quality of Life for Geographically Diverse Adults With Neurofibromatosis: A Fully Remote Randomized Clinical Trial.
Ana-Maria Vranceanu et al. JAMA Netw Open 2023 6(6) e2320599 - Missense variant interaction scanning reveals a critical role of the FERM domain for tumor suppressor protein NF2 conformation and function.
Christina S Moesslacher, et al. Life science alliance 2023 0 (8) - Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Naoki Oishi, et al. Scientific reports 2023 0 (1) 6595 - Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma.
Paganini Irene, et al. Journal of neuro-oncology 2017 0 (1) 33-38 - Pain correlates with germline mutation in schwannomatosis.
Jordan Justin T, et al. Medicine 2018 0 (5) e9717 - Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use.
Bettegowda Chetan, et al. Neurology 2021 0 (7 Suppl 1) S91-S98 - Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes.
Perez-Becerril Cristina, et al. Human mutation 2021 0 (10) 1187-1207 - Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Sadler Katherine V, et al. Brain : a journal of neurology 2022 0 - LZTR1 mutation mediates oncogenesis through stabilization of EGFR and AXL.
Ko Aram, et al. Cancer discovery 2022 0
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
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- Duchenne Muscular Dystrophy
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 21, 2024
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