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Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy.
McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC; NISC Comparative Sequencing Program; Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A. McLaughlin HM, et al. Among authors: vance jm. Am J Hum Genet. 2010 Oct 8;87(4):560-6. doi: 10.1016/j.ajhg.2010.09.008. Am J Hum Genet. 2010. PMID: 20920668 Free PMC article.
SNPing away at complex diseases: analysis of single-nucleotide polymorphisms around APOE in Alzheimer disease.
Martin ER, Lai EH, Gilbert JR, Rogala AR, Afshari AJ, Riley J, Finch KL, Stevens JF, Livak KJ, Slotterbeck BD, Slifer SH, Warren LL, Conneally PM, Schmechel DE, Purvis I, Pericak-Vance MA, Roses AD, Vance JM. Martin ER, et al. Among authors: vance jm. Am J Hum Genet. 2000 Aug;67(2):383-94. doi: 10.1086/303003. Epub 2000 Jun 21. Am J Hum Genet. 2000. PMID: 10869235 Free PMC article.
Linkage of Charcot-Marie-Tooth neuropathy type 1a to chromosome 17.
Vance JM, Nicholson GA, Yamaoka LH, Stajich J, Stewart CS, Speer MC, Hung WY, Roses AD, Barker D, Pericak-Vance MA. Vance JM, et al. Exp Neurol. 1989 May;104(2):186-9. doi: 10.1016/s0014-4886(89)80013-5. Exp Neurol. 1989. PMID: 2707366
Investigation of the PARK10 gene in Parkinson disease.
Li YJ, Deng J, Mayhew GM, Grimsley JW, Huo X, Vance JM. Li YJ, et al. Among authors: vance jm. Ann Hum Genet. 2007 Sep;71(Pt 5):639-47. doi: 10.1111/j.1469-1809.2007.00353.x. Epub 2007 Mar 27. Ann Hum Genet. 2007. PMID: 17388942
Gene-gene interaction between FGF20 and MAOB in Parkinson disease.
Gao X, Scott WK, Wang G, Mayhew G, Li YJ, Vance JM, Martin ER. Gao X, et al. Among authors: vance jm. Ann Hum Genet. 2008 Mar;72(Pt 2):157-62. doi: 10.1111/j.1469-1809.2007.00418.x. Epub 2008 Jan 20. Ann Hum Genet. 2008. PMID: 18205889
300 results