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Page 1
Sporadic vestibular schwannoma: a molecular testing summary.
Sadler KV, Bowers NL, Hartley C, Smith PT, Tobi S, Wallace AJ, King A, Lloyd SKW, Rutherford S, Pathmanaban ON, Hammerbeck-Ward C, Freeman S, Stapleton E, Taylor A, Shaw A, Halliday D, Smith MJ, Evans DG. Sadler KV, et al. Among authors: bowers nl. J Med Genet. 2021 Apr;58(4):227-233. doi: 10.1136/jmedgenet-2020-107022. Epub 2020 Jun 23. J Med Genet. 2021. PMID: 32576656
Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset.
Smith MJ, Higgs JE, Bowers NL, Halliday D, Paterson J, Gillespie J, Huson SM, Freeman SR, Lloyd S, Rutherford SA, King AT, Wallace AJ, Ramsden RT, Evans DG. Smith MJ, et al. Among authors: bowers nl. J Med Genet. 2011 Apr;48(4):261-5. doi: 10.1136/jmg.2010.085241. Epub 2011 Jan 28. J Med Genet. 2011. PMID: 21278391
Schwannomatosis: a genetic and epidemiological study.
Evans DG, Bowers NL, Tobi S, Hartley C, Wallace AJ, King AT, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Freeman SR, Ealing J, Kellett M, Laitt R, Thomas O, Halliday D, Ferner R, Taylor A, Duff C, Harkness EF, Smith MJ. Evans DG, et al. Among authors: bowers nl. J Neurol Neurosurg Psychiatry. 2018 Nov;89(11):1215-1219. doi: 10.1136/jnnp-2018-318538. Epub 2018 Jun 16. J Neurol Neurosurg Psychiatry. 2018. PMID: 29909380
Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.
Evans DG, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKL, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi S, Ferner RE, Harkness EF, Smith MJ; English Specialist NF2 Research Group. Evans DG, et al. Among authors: bowers nl. Genet Med. 2019 Jul;21(7):1525-1533. doi: 10.1038/s41436-018-0384-y. Epub 2018 Dec 7. Genet Med. 2019. PMID: 30523344 Free article.
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Evans DG, Hartley CL, Smith PT, King AT, Bowers NL, Tobi S, Wallace AJ, Perry M, Anup R, Lloyd SKW, Rutherford SA, Hammerbeck-Ward C, Pathmanaban ON, Stapleton E, Freeman SR, Kellett M, Halliday D, Parry A, Gair JJ, Axon P, Laitt R, Thomas O, Afridi SK, Obholzer R; English Specialist NF research group; Duff C, Stivaros SM, Vassallo G, Harkness EF, Smith MJ. Evans DG, et al. Among authors: bowers nl. Genet Med. 2020 Jan;22(1):53-59. doi: 10.1038/s41436-019-0598-7. Epub 2019 Jul 5. Genet Med. 2020. PMID: 31273341 Free article.
Assessment of mismatch repair deficiency in ovarian cancer.
Crosbie EJ, Ryan NAJ, McVey RJ, Lalloo F, Bowers N, Green K, Woodward ER, Clancy T, Bolton J, Wallace AJ, McMahon RF, Evans DG. Crosbie EJ, et al. J Med Genet. 2021 Oct;58(10):687-691. doi: 10.1136/jmedgenet-2020-107270. Epub 2020 Sep 11. J Med Genet. 2021. PMID: 32917768 Free PMC article.
Mosaicism in neurofibromatosis type 2: an update of risk based on uni/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification.
Evans DG, Ramsden RT, Shenton A, Gokhale C, Bowers NL, Huson SM, Pichert G, Wallace A. Evans DG, et al. Among authors: bowers nl. J Med Genet. 2007 Jul;44(7):424-8. doi: 10.1136/jmg.2006.047753. Epub 2007 Feb 16. J Med Genet. 2007. PMID: 17307835 Free PMC article.
68 results