Smith M - Search Results

1

Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants.

Moualed D, Wong J, Thomas O, Heal C, Saqib R, Choi C, Lloyd S, Rutherford S, Stapleton E, Hammerbeck-Ward C, Pathmanaban O, Laitt R, Smith M, Wallace A, Kellett M, Evans G, King A, Freeman S. Moualed D, et al. Among authors: smith m. Eur J Hum Genet. 2022 Apr;30(4):458-464. doi: 10.1038/s41431-021-01029-y. Epub 2022 Jan 24. Eur J Hum Genet. 2022. PMID: 35067678 Free PMC article.

2

Isolated unilateral vestibular schwannomas do not harbor HRAS mutations.

Smith MJ, Hadfield KD, Ramsden RT, Rutherford SA, King AT, Newman WG, Evans DG. Smith MJ, et al. Am J Med Genet A. 2010 Jun;152A(6):1586-7. doi: 10.1002/ajmg.a.33409. Am J Med Genet A. 2010. PMID: 20503341 No abstract available.

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

Vestibular schwannomas occur in schwannomatosis and should not be considered an exclusion criterion for clinical diagnosis.

Smith MJ, Kulkarni A, Rustad C, Bowers NL, Wallace AJ, Holder SE, Heiberg A, Ramsden RT, Evans DG. Smith MJ, et al. Am J Med Genet A. 2012 Jan;158A(1):215-9. doi: 10.1002/ajmg.a.34376. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22105938

6

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

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 SMARCE1 mutations predispose to both spinal and cranial clear cell meningiomas.

Smith MJ, Wallace AJ, Bennett C, Hasselblatt M, Elert-Dobkowska E, Evans LT, Hickey WF, van Hoff J, Bauer D, Lee A, Hevner RF, Beetz C, du Plessis D, Kilday JP, Newman WG, Evans DG. Smith MJ, et al. J Pathol. 2014 Dec;234(4):436-40. doi: 10.1002/path.4427. Epub 2014 Oct 6. J Pathol. 2014. PMID: 25143307

9

Common variants modify the age of onset for basal cell carcinomas in Gorlin syndrome.

Yasar B, Byers HJ, Smith MJ, Lear J, Oudit D, Bholah Z, Roberts SA, Newman WG, Evans DG. Yasar B, et al. Eur J Hum Genet. 2015 May;23(5):708-10. doi: 10.1038/ejhg.2014.167. Epub 2014 Aug 27. Eur J Hum Genet. 2015. PMID: 25159867 Free PMC article.

10

Pediatric intracranial clear cell meningioma associated with a germline mutation of SMARCE1: a novel case.

Raffalli-Ebezant H, Rutherford SA, Stivaros S, Kelsey A, Smith M, Evans DG, Kilday JP. Raffalli-Ebezant H, et al. Among authors: smith m. Childs Nerv Syst. 2015 Mar;31(3):441-7. doi: 10.1007/s00381-014-2558-5. Epub 2014 Sep 24. Childs Nerv Syst. 2015. PMID: 25249420

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