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X-Linked Glomerulopathy Due to COL4A5 Founder Variant.
Barua M, John R, Stella L, Li W, Roslin NM, Sharif B, Hack S, Lajoie-Starkell G, Schwaderer AL, Becknell B, Wuttke M, Köttgen A, Cattran D, Paterson AD, Pei Y. Barua M, et al. Among authors: roslin nm. Am J Kidney Dis. 2018 Mar;71(3):441-445. doi: 10.1053/j.ajkd.2017.09.005. Epub 2017 Dec 1. Am J Kidney Dis. 2018. PMID: 29198386 Review.
Specific variants in the MLH1 gene region may drive DNA methylation, loss of protein expression, and MSI-H colorectal cancer.
Mrkonjic M, Roslin NM, Greenwood CM, Raptis S, Pollett A, Laird PW, Pethe VV, Chiang T, Daftary D, Dicks E, Thibodeau SN, Gallinger S, Parfrey PS, Younghusband HB, Potter JD, Hudson TJ, McLaughlin JR, Green RC, Zanke BW, Newcomb PA, Paterson AD, Bapat B. Mrkonjic M, et al. Among authors: roslin nm. PLoS One. 2010 Oct 13;5(10):e13314. doi: 10.1371/journal.pone.0013314. PLoS One. 2010. PMID: 20967208 Free PMC article.
OTX2 mutations cause autosomal dominant pattern dystrophy of the retinal pigment epithelium.
Vincent A, Forster N, Maynes JT, Paton TA, Billingsley G, Roslin NM, Ali A, Sutherland J, Wright T, Westall CA, Paterson AD, Marshall CR; FORGE Canada Consortium; Héon E. Vincent A, et al. Among authors: roslin nm. J Med Genet. 2014 Dec;51(12):797-805. doi: 10.1136/jmedgenet-2014-102620. Epub 2014 Oct 7. J Med Genet. 2014. PMID: 25293953
Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression.
Evans DR, Green JS, Johnson GJ, Schwartzentruber J, Majewski J, Beaulieu CL, Qin W, Marshall CR, Paton TA, Roslin NM, Paterson AD, Fahiminiya S, French J, Boycott KM, Woods MO; FORGE Canada Consortium. Evans DR, et al. Among authors: roslin nm. Invest Ophthalmol Vis Sci. 2017 Mar 1;58(3):1736-1742. doi: 10.1167/iovs.16-20864. Invest Ophthalmol Vis Sci. 2017. PMID: 28324114
Reduced proportions of natural killer T cells are present in the relatives of lupus patients and are associated with autoimmunity.
Wither J, Cai YC, Lim S, McKenzie T, Roslin N, Claudio JO, Cooper GS, Hudson TJ, Paterson AD, Greenwood CM, Gladman D, Pope J, Pineau CA, Smith CD, Hanly JG, Peschken C, Boire G; CaNIOS Investigators; Fortin PR. Wither J, et al. Arthritis Res Ther. 2008;10(5):R108. doi: 10.1186/ar2505. Epub 2008 Sep 10. Arthritis Res Ther. 2008. PMID: 18783591 Free PMC article.
32 results