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Year Number of Results
2005 1
2006 1
2009 1
2010 2
2011 3
2012 8
2013 4
2014 7
2015 5
2016 2
2017 4
2018 7
2019 8
2020 9
2021 17
2022 16
2023 10
2024 1

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86 results

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Page 1
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation.
Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, Babovic-Vuksanovic D, Ferner R, Fisher MJ, Friedman JM, Giovannini M, Gutmann DH, Hanemann CO, Kalamarides M, Kehrer-Sawatzki H, Korf BR, Mautner VF, MacCollin M, Papi L, Rauen KA, Riccardi V, Schorry E, Smith MJ, Stemmer-Rachamimov A, Stevenson DA, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Wolkenstein P, Evans DG. Plotkin SR, et al. Among authors: smith mj. Genet Med. 2022 Sep;24(9):1967-1977. doi: 10.1016/j.gim.2022.05.007. Epub 2022 Jun 9. Genet Med. 2022. PMID: 35674741 Free article.
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.
Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, Blakeley J, Babovic-Vuksanovic D, Cunha KS, Ferner R, Fisher MJ, Friedman JM, Gutmann DH, Kehrer-Sawatzki H, Korf BR, Mautner VF, Peltonen S, Rauen KA, Riccardi V, Schorry E, Stemmer-Rachamimov A, Stevenson DA, Tadini G, Ullrich NJ, Viskochil D, Wimmer K, Yohay K; International Consensus Group on Neurofibromatosis Diagnostic Criteria (I-NF-DC); Huson SM, Evans DG, Plotkin SR. Legius E, et al. Genet Med. 2021 Aug;23(8):1506-1513. doi: 10.1038/s41436-021-01170-5. Epub 2021 May 19. Genet Med. 2021. PMID: 34012067 Free PMC article.
SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma.
St Pierre R, Collings CK, Samé Guerra DD, Widmer CJ, Bolonduro O, Mashtalir N, Sankar A, Liang Y, Bi WL, Gerkes EH, Ramesh V, Qi J, Smith MJ, Meredith DM, Kadoch C. St Pierre R, et al. Among authors: smith mj. Nat Genet. 2022 Jun;54(6):861-873. doi: 10.1038/s41588-022-01077-0. Epub 2022 Jun 9. Nat Genet. 2022. PMID: 35681054
The clinical, genetic, and immune landscape of meningioma in patients with NF2-schwannomatosis.
Gregory GE, Islim AI, Hannan CJ, Jones AP, Hammerbeck-Ward C, Rutherford SA, Freeman SR, Lloyd S, Kalamarides M, Smith MJ, Couper K, McBain CA, Jenkinson MD, Brough D, King AT, Evans DG, Pathmanaban ON. Gregory GE, et al. Among authors: smith mj. Neurooncol Adv. 2023 Jun 3;5(Suppl 1):i94-i104. doi: 10.1093/noajnl/vdac127. eCollection 2023 May. Neurooncol Adv. 2023. PMID: 37287576 Free PMC article.
Germline and somatic mutations in meningiomas.
Smith MJ. Smith MJ. Cancer Genet. 2015 Apr;208(4):107-14. doi: 10.1016/j.cancergen.2015.02.003. Epub 2015 Feb 19. Cancer Genet. 2015. PMID: 25857641 Review.
Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21.
Sadler KV, Bowes J, Rowlands CF, Perez-Becerril C, van der Meer CM, King AT, Rutherford SA, Pathmanaban ON, Hammerbeck-Ward C, Lloyd SKW, Freeman SR, Williams R, Hannan CJ, Lewis D, Eyre S, Evans DG, Smith MJ. Sadler KV, et al. Among authors: smith mj. Brain. 2023 Jul 3;146(7):2861-2868. doi: 10.1093/brain/awac478. Brain. 2023. PMID: 36546557 Free PMC article.
Germline intergenic duplications at Xq26.1 underlie Bazex-Dupré-Christol basal cell carcinoma susceptibility syndrome.
Liu Y, Banka S, Huang Y, Hardman-Smart J, Pye D, Torrelo A, Beaman GM, Kazanietz MG, Baker MJ, Ferrazzano C, Shi C, Orozco G, Eyre S, van Geel M, Bygum A, Fischer J, Miedzybrodzka Z, Abuzahra F, Rübben A, Cuvertino S, Ellingford JM, Smith MJ, Evans DG, Weppner-Parren LJMT, van Steensel MAM, Chaudhary IH, Mangham DC, Lear JT, Paus R, Frank J, Newman WG, Zhang X. Liu Y, et al. Among authors: smith mj. Br J Dermatol. 2022 Dec;187(6):948-961. doi: 10.1111/bjd.21842. Epub 2022 Sep 12. Br J Dermatol. 2022. PMID: 35986704
86 results