Smith MJ - Search Results

1

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: smith mj. 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.

2

SMARCB1 mutations are not a common cause of multiple meningiomas.

Hadfield KD, Smith MJ, Trump D, Newman WG, Evans DG. Hadfield KD, et al. Among authors: smith mj. J Med Genet. 2010 Aug;47(8):567-8. doi: 10.1136/jmg.2009.075721. Epub 2010 May 14. J Med Genet. 2010. PMID: 20472658

3

Rates of loss of heterozygosity and mitotic recombination in NF2 schwannomas, sporadic vestibular schwannomas and schwannomatosis schwannomas.

Hadfield KD, Smith MJ, Urquhart JE, Wallace AJ, Bowers NL, King AT, Rutherford SA, Trump D, Newman WG, Evans DG. Hadfield KD, et al. Among authors: smith mj. Oncogene. 2010 Nov 25;29(47):6216-21. doi: 10.1038/onc.2010.363. Epub 2010 Aug 23. Oncogene. 2010. PMID: 20729918

4

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. 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

5

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. Neurogenetics. 2012 May;13(2):141-5. doi: 10.1007/s10048-012-0319-8. Epub 2012 Mar 22. Neurogenetics. 2012. PMID: 22434358

6

Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.

Smith MJ, O'Sullivan J, Bhaskar SS, Hadfield KD, Poke G, Caird J, Sharif S, Eccles D, Fitzpatrick D, Rawluk D, du Plessis D, Newman WG, Evans DG. Smith MJ, et al. Nat Genet. 2013 Mar;45(3):295-8. doi: 10.1038/ng.2552. Epub 2013 Feb 3. Nat Genet. 2013. PMID: 23377182

7

SMARCB1 mutations in schwannomatosis and genotype correlations with rhabdoid tumors.

Smith MJ, Wallace AJ, Bowers NL, Eaton H, Evans DG. Smith MJ, et al. Cancer Genet. 2014 Sep;207(9):373-8. doi: 10.1016/j.cancergen.2014.04.001. Epub 2014 Apr 8. Cancer Genet. 2014. PMID: 24933152

8

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. 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

9

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: smith mj. 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

10

A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.

Gerkes EH, Fock JM, den Dunnen WF, van Belzen MJ, van der Lans CA, Hoving EW, Fakkert IE, Smith MJ, Evans DG, Olderode-Berends MJ. Gerkes EH, et al. Among authors: smith mj. Neurogenetics. 2016 Apr;17(2):83-9. doi: 10.1007/s10048-015-0472-y. Epub 2016 Jan 23. Neurogenetics. 2016. PMID: 26803492 Free PMC article. Review.

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