Smith MJ - Search Results

1

Differential rates of germline heterozygote and mosaic variants in NF2 may show varying propensity for meiotic or mitotic mutation.

Evans DG, Burghel GJ, Smith MJ. Evans DG, et al. Among authors: smith mj. J Med Genet. 2023 Sep;60(9):838-841. doi: 10.1136/jmg-2022-108960. Epub 2023 Jan 4. J Med Genet. 2023. PMID: 36599646

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

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.

4

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

5

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

6

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

7

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.

8

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

9

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.

10

Intronic splicing mutations in PTCH1 cause Gorlin syndrome.

Bholah Z, Smith MJ, Byers HJ, Miles EK, Evans DG, Newman WG. Bholah Z, et al. Among authors: smith mj. Fam Cancer. 2014 Sep;13(3):477-80. doi: 10.1007/s10689-014-9712-9. Fam Cancer. 2014. PMID: 24659465

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