Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 19 (of 19 Records) |
Query Trace: Schwannomatosis[original query] |
---|
SMARCB1 mutations are not a common cause of multiple meningiomas. Journal of medical genetics 2010 Aug 47 (8): 567-8. Hadfield K D, Smith M J, Trump D, Newman W G, Evans D |
Spectrum of SMARCB1/INI1 mutations in familial and sporadic rhabdoid tumors. Pediatric blood & cancer 2011 Jan 56 (1): 7-15. Eaton Katherine W, Tooke Laura S, Wainwright Luanne M, Judkins Alexander R, Biegel Jaclyn |
SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis. BMC neurology 2011 1 11 9. Rousseau Guillaume, Noguchi Tetsuro, Bourdon Violaine, Sobol Hagay, Olschwang Sylvia |
Malignant peripheral nerve sheath tumours in inherited disease. Clinical sarcoma research 2012 Oct 2 (1): 1. Evans DG, Huson SM, Birch JM |
SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors. Cancer genetics 2014 Sep 207 (9): 373-8. Smith Miriam J, Wallace Andrew J, Bowers Naomi L, Eaton Helen, Evans D Gareth |
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology 2015 Jan 84 (2): 141-7. Smith Miriam J, Isidor Bertand, Beetz Christian, Williams Simon G, Bhaskar Sanjeev S, Richer Wilfrid, O'Sullivan James, Anderson Beverly, Daly Sarah B, Urquhart Jill E, Fryer Alan, Rustad Cecilie F, Mills Samantha J, Samii Amir, du Plessis Daniel, Halliday Dorothy, Barbarot Sebastien, Bourdeaut Franck, Newman William G, Evans D Gare |
Multifocal nerve lesions and LZTR1 germline mutations in segmental schwannomatosis. Annals of neurology 2016 Jul . Farschtschi Said, Mautner Victor-Felix, Pham Mirko, Nguyen Rosa, Kehrer-Sawatzki Hildegard, Hutter Sonja, Friedrich Reinhard E, Schulz Alexander, Morrison Helen, Jones David T W, Bendszus Martin, Bäumer Phili |
Revisiting neurofibromatosis type 2 diagnostic criteria to exclude LZTR1-related schwannomatosis. Neurology 2016 Nov . Smith Miriam J, Bowers Naomi L, Bulman Michael, Gokhale Carolyn, Wallace Andrew J, King Andrew T, Lloyd Simon K L, Rutherford Scott A, Hammerbeck-Ward Charlotte L, Freeman Simon R, Evans D Gare |
Double somatic SMARCB1 and NF2 mutations in sporadic spinal schwannoma. Journal of neuro-oncology 2017 12 137 (1): 33-38. Paganini Irene, Capone Gabriele Lorenzo, Vitte Jeremie, Sestini Roberta, Putignano Anna Laura, Giovannini Marco, Papi Lau |
Pain correlates with germline mutation in schwannomatosis. Medicine 2018 2 97 (5): e9717. Jordan Justin T, Smith Miriam J, Walker James A, Erdin Serkan, Talkowski Michael E, Merker Vanessa L, Ramesh Vijaya, Cai Wenli, Harris Gordon J, Bredella Miriam A, Seijo Marlon, Suuberg Alessandra, Gusella James F, Plotkin Scott |
Genotype-Phenotype Correlations in Neurofibromatosis and Their Potential Clinical Use. Neurology 2021 7 97 (7 Suppl 1): S91-S98. Bettegowda Chetan, Upadhayaya Meena, Evans D Gareth, Kim AeRang, Mathios Dimitrios, Hanemann Clemens O, |
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genes. Human mutation 2021 7 42 (10): 1187-1207. Perez-Becerril Cristina, Evans D Gareth, Smith Miriam |
Screening of potential novel candidate genes in schwannomatosis patients. Human mutation 2022 Jun . Perez-Becerril Cristina, Wallace Andrew J, Schlecht Helene, Bowers Naomi L, Smith Philip T, Gokhale Carolyn, Eaton Helen, Charlton Chris, Robinson Rachel, Charlton Ruth S, Evans D Gareth, Smith Miriam |
Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population. Human mutation 2022 4 43 (7): 919-927. Deng Fanxuan, Evans D Gareth, Smith Miriam |
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Brain : a journal of neurology 2022 12 . Sadler Katherine V, Bowes John, Rowlands Charlie F, Perez-Becerril Cristina, van der Meer C Mwee, King Andrew T, Rutherford Scott A, Pathmanaban Omar N, Hammerbeck-Ward Charlotte, Lloyd Simon K W, Freeman Simon R, Williams Ricky, Hannan Cathal John, Lewis Daniel, Eyre Steve, Evans D Gareth, Smith Miriam |
LZTR1 mutation mediates oncogenesis through stabilization of EGFR and AXL. Cancer discovery 2022 11 . Ko Aram, Hasanain Mohammad, Oh Young Taek, D'Angelo Fulvio, Sommer Danika, Frangaj Brulinda, Tran Suzanne, Bielle Franck, Pollo Bianca, Paterra Rosina, Mokhtari Karima, Soni Rajesh Kumar, Peyre Matthieu, Eoli Marica, Papi Laura, Kalamarides Michel, Sanson Marc, Iavarone Antonio, Lasorella An |
Missense variant interaction scanning reveals a critical role of the FERM domain for tumor suppressor protein NF2 conformation and function. Life science alliance 2023 6 6 (8): . Christina S Moesslacher, Elisabeth Auernig, Jonathan Woodsmith, Andreas Feichtner, Evelyne Jany-Luig, Stefanie Jehle, Josephine M Worseck, Christian L Heine, Eduard Stefan, Ulrich Stel |
Radiogenomics in NF2-Associated Schwannomatosis (Neurofibromatosis Type II): Exploratory Data Analysis. Studies in health technology and informatics 2023 6 305 588-591. Gleb Danilov, Elizaveta Makashova, Mikhail Galkin, Kristina Karandashe |
Correlation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis. Scientific reports 2023 4 13 (1): 6595. Naoki Oishi, Masaru Noguchi, Masato Fujioka, Kiyomitsu Nara, Koichiro Wasano, Hideki Mutai, Rie Kawakita, Ryota Tamura, Kosuke Karatsu, Yukina Morimoto, Masahiro Toda, Hiroyuki Ozawa, Tatsuo Matsuna |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: