Smith MJ - Search Results

1

Update from the 2011 International Schwannomatosis Workshop: From genetics to diagnostic criteria.

Plotkin SR, Blakeley JO, Evans DG, Hanemann CO, Hulsebos TJ, Hunter-Schaedle K, Kalpana GV, Korf B, Messiaen L, Papi L, Ratner N, Sherman LS, Smith MJ, Stemmer-Rachamimov AO, Vitte J, Giovannini M. Plotkin SR, et al. Among authors: smith mj. Am J Med Genet A. 2013 Mar;161A(3):405-16. doi: 10.1002/ajmg.a.35760. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401320 Free PMC article.

2

Alterations in the SMARCB1 (INI1) tumor suppressor gene in familial schwannomatosis.

Boyd C, Smith MJ, Kluwe L, Balogh A, Maccollin M, Plotkin SR. Boyd C, et al. Among authors: smith mj. Clin Genet. 2008 Oct;74(4):358-66. doi: 10.1111/j.1399-0004.2008.01060.x. Epub 2008 Jul 21. Clin Genet. 2008. PMID: 18647326

3

Identity analysis of schwannomatosis kindreds with recurrent constitutional SMARCB1 (INI1) alterations.

Smith MJ, Boyd CD, MacCollin MM, Plotkin SR. Smith MJ, et al. Clin Genet. 2009 May;75(5):501-2. doi: 10.1111/j.1399-0004.2009.01156.x. Epub 2009 Mar 23. Clin Genet. 2009. PMID: 19320657 No abstract available.

4

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

5

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.

6

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

7

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

8

Comment on the article "Germline SMARCB1 mutation predisposes to multiple meningiomas and schwannomas with preferential location of cranial meningiomas at the falx cerebri" by van den Munckhof et al.

Prescott TE, Smith MJ, Evans DG. Prescott TE, et al. Among authors: smith mj. Neurogenetics. 2012 Feb;13(1):103-4. doi: 10.1007/s10048-011-0309-2. Epub 2011 Dec 28. Neurogenetics. 2012. PMID: 22203059 No abstract available.

9

Clinical features of schwannomatosis: a retrospective analysis of 87 patients.

Merker VL, Esparza S, Smith MJ, Stemmer-Rachamimov A, Plotkin SR. Merker VL, et al. Among authors: smith mj. Oncologist. 2012;17(10):1317-22. doi: 10.1634/theoncologist.2012-0162. Epub 2012 Aug 27. Oncologist. 2012. PMID: 22927469 Free PMC article.

10

Expression of SMARCB1 (INI1) mutations in familial schwannomatosis.

Smith MJ, Walker JA, Shen Y, Stemmer-Rachamimov A, Gusella JF, Plotkin SR. Smith MJ, et al. Hum Mol Genet. 2012 Dec 15;21(24):5239-45. doi: 10.1093/hmg/dds370. Epub 2012 Sep 4. Hum Mol Genet. 2012. PMID: 22949514 Free PMC article.

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