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Loss of SUFU function in familial multiple meningioma.
Aavikko M, Li SP, Saarinen S, Alhopuro P, Kaasinen E, Morgunova E, Li Y, Vesanen K, Smith MJ, Evans DG, Pöyhönen M, Kiuru A, Auvinen A, Aaltonen LA, Taipale J, Vahteristo P. Aavikko M, et al. Among authors: evans dg. Am J Hum Genet. 2012 Sep 7;91(3):520-6. doi: 10.1016/j.ajhg.2012.07.015. Am J Hum Genet. 2012. PMID: 22958902 Free PMC article.
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: evans dg. 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
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis.
Smith MJ, Wallace AJ, Bowers NL, Rustad CF, Woods CG, Leschziner GD, Ferner RE, Evans DG. Smith MJ, et al. Among authors: evans dg. Neurogenetics. 2012 May;13(2):141-5. doi: 10.1007/s10048-012-0319-8. Epub 2012 Mar 22. Neurogenetics. 2012. PMID: 22434358
Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations.
Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG. Smith MJ, et al. Among authors: evans dg. J Clin Oncol. 2014 Dec 20;32(36):4155-61. doi: 10.1200/JCO.2014.58.2569. Epub 2014 Nov 17. J Clin Oncol. 2014. PMID: 25403219
Clinical and molecular predictors of mortality in neurofibromatosis 2: a UK national analysis of 1192 patients.
Hexter A, Jones A, Joe H, Heap L, Smith MJ, Wallace AJ, Halliday D, Parry A, Taylor A, Raymond L, Shaw A, Afridi S, Obholzer R, Axon P, King AT; English Specialist NF2 Research Group; Friedman JM, Evans DG. Hexter A, et al. Among authors: evans dg. J Med Genet. 2015 Oct;52(10):699-705. doi: 10.1136/jmedgenet-2015-103290. Epub 2015 Aug 14. J Med Genet. 2015. PMID: 26275417
Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.
Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM. Koczkowska M, et al. Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28. Am J Hum Genet. 2018. PMID: 29290338 Free PMC article.
Predictors of the risk of mortality in neurofibromatosis 2.
Baser ME, Friedman JM, Aeschliman D, Joe H, Wallace AJ, Ramsden RT, Evans DG. Baser ME, et al. Among authors: evans dg. Am J Hum Genet. 2002 Oct;71(4):715-23. doi: 10.1086/342716. Epub 2002 Aug 22. Am J Hum Genet. 2002. PMID: 12235555 Free PMC article.
1,321 results