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Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: stankovich j. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
Identifying nineteenth century genealogical links from genotypes.
Stankovich J, Bahlo M, Rubio JP, Wilkinson CR, Thomson R, Banks A, Ring M, Foote SJ, Speed TP. Stankovich J, et al. Hum Genet. 2005 Jul;117(2-3):188-99. doi: 10.1007/s00439-005-1279-y. Epub 2005 May 10. Hum Genet. 2005. PMID: 15883841
Extended haplotype analysis in the HLA complex reveals an increased frequency of the HFE-C282Y mutation in individuals with multiple sclerosis.
Rubio JP, Bahlo M, Tubridy N, Stankovich J, Burfoot R, Butzkueven H, Chapman C, Johnson L, Marriott M, Mraz G, Tait B, Wilkinson C, Taylor B, Speed TP, Foote SJ, Kilpatrick TJ. Rubio JP, et al. Among authors: stankovich j. Hum Genet. 2004 May;114(6):573-80. doi: 10.1007/s00439-004-1095-9. Epub 2004 Mar 11. Hum Genet. 2004. PMID: 15014978
Analysis of extended HLA haplotypes in multiple sclerosis and narcolepsy families confirms a predisposing effect for the class I region in Tasmanian MS patients.
Rubio JP, Bahlo M, Stankovich J, Burfoot RK, Johnson LJ, Huxtable S, Butzkueven H, Lin L, Taylor BV, Speed TP, Kilpatrick TJ, Mignot E, Foote SJ. Rubio JP, et al. Among authors: stankovich j. Immunogenetics. 2007 Mar;59(3):177-86. doi: 10.1007/s00251-006-0183-5. Epub 2007 Jan 26. Immunogenetics. 2007. PMID: 17256150
SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians.
Burfoot RK, Jensen CJ, Field J, Stankovich J, Varney MD, Johnson LJ, Butzkueven H, Booth D, Bahlo M, Tait BD, Taylor BV, Speed TP, Heard R, Stewart GJ, Foote SJ, Kilpatrick TJ, Rubio JP. Burfoot RK, et al. Among authors: stankovich j. Tissue Antigens. 2008 Jan;71(1):42-50. doi: 10.1111/j.1399-0039.2007.00962.x. Epub 2007 Oct 30. Tissue Antigens. 2008. PMID: 17971048
143 results