Smith MJ - Search Results

1

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

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

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

High sensitivity for BRCA1/2 mutations in breast/ovarian kindreds: are there still other breast/ovary genes to be discovered?

Smith MJ, Gifford FL, Lalloo F, Newman WG, Evans DG. Smith MJ, et al. Breast Cancer Res Treat. 2012 Jul;134(2):895-7. doi: 10.1007/s10549-012-2130-5. Epub 2012 Jul 3. Breast Cancer Res Treat. 2012. PMID: 22752287 No abstract available.

8

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.

9

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

10

Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.

Jenkinson EM, Rehman AU, Walsh T, Clayton-Smith J, Lee K, Morell RJ, Drummond MC, Khan SN, Naeem MA, Rauf B, Billington N, Schultz JM, Urquhart JE, Lee MK, Berry A, Hanley NA, Mehta S, Cilliers D, Clayton PE, Kingston H, Smith MJ, Warner TT; University of Washington Center for Mendelian Genomics; Black GC, Trump D, Davis JR, Ahmad W, Leal SM, Riazuddin S, King MC, Friedman TB, Newman WG. Jenkinson EM, et al. Among authors: smith mj. Am J Hum Genet. 2013 Apr 4;92(4):605-13. doi: 10.1016/j.ajhg.2013.02.013. Epub 2013 Mar 28. Am J Hum Genet. 2013. PMID: 23541340 Free PMC article.

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