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448 results

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Carriers of rare missense variants in IFIH1 are protected from psoriasis.
Li Y, Liao W, Cargill M, Chang M, Matsunami N, Feng BJ, Poon A, Callis-Duffin KP, Catanese JJ, Bowcock AM, Leppert MF, Kwok PY, Krueger GG, Begovich AB. Li Y, et al. Among authors: leppert mf. J Invest Dermatol. 2010 Dec;130(12):2768-72. doi: 10.1038/jid.2010.214. Epub 2010 Jul 29. J Invest Dermatol. 2010. PMID: 20668468 Free PMC article.
Variants in the 5q31 cytokine gene cluster are associated with psoriasis.
Chang M, Li Y, Yan C, Callis-Duffin KP, Matsunami N, Garcia VE, Cargill M, Civello D, Bui N, Catanese JJ, Leppert MF, Krueger GG, Begovich AB, Schrodi SJ. Chang M, et al. Among authors: leppert mf. Genes Immun. 2008 Mar;9(2):176-81. doi: 10.1038/sj.gene.6364451. Epub 2007 Dec 13. Genes Immun. 2008. PMID: 18075513
Detailed genetic characterization of the interleukin-23 receptor in psoriasis.
Garcia VE, Chang M, Brandon R, Li Y, Matsunami N, Callis-Duffin KP, Civello D, Rowland CM, Bui N, Catanese JJ, Krueger GG, Leppert MF, Begovich AB, Schrodi SJ. Garcia VE, et al. Among authors: leppert mf. Genes Immun. 2008 Sep;9(6):546-55. doi: 10.1038/gene.2008.55. Epub 2008 Jul 24. Genes Immun. 2008. PMID: 18650833
The 5q31 variants associated with psoriasis and Crohn's disease are distinct.
Li Y, Chang M, Schrodi SJ, Callis-Duffin KP, Matsunami N, Civello D, Bui N, Catanese JJ, Leppert MF, Krueger GG, Begovich AB. Li Y, et al. Among authors: leppert mf. Hum Mol Genet. 2008 Oct 1;17(19):2978-85. doi: 10.1093/hmg/ddn196. Epub 2008 Jul 9. Hum Mol Genet. 2008. PMID: 18614543 Free PMC article.
Further genetic evidence for three psoriasis-risk genes: ADAM33, CDKAL1, and PTPN22.
Li Y, Liao W, Chang M, Schrodi SJ, Bui N, Catanese JJ, Poon A, Matsunami N, Callis-Duffin KP, Leppert MF, Bowcock AM, Kwok PY, Krueger GG, Begovich AB. Li Y, et al. Among authors: leppert mf. J Invest Dermatol. 2009 Mar;129(3):629-34. doi: 10.1038/jid.2008.297. Epub 2008 Oct 16. J Invest Dermatol. 2009. PMID: 18923449 Free PMC article.
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes.
Cargill M, Schrodi SJ, Chang M, Garcia VE, Brandon R, Callis KP, Matsunami N, Ardlie KG, Civello D, Catanese JJ, Leong DU, Panko JM, McAllister LB, Hansen CB, Papenfuss J, Prescott SM, White TJ, Leppert MF, Krueger GG, Begovich AB. Cargill M, et al. Among authors: leppert mf. Am J Hum Genet. 2007 Feb;80(2):273-90. doi: 10.1086/511051. Epub 2006 Dec 21. Am J Hum Genet. 2007. PMID: 17236132 Free PMC article.
Genome-wide analyses identify common variants associated with macular telangiectasia type 2.
Scerri TS, Quaglieri A, Cai C, Zernant J, Matsunami N, Baird L, Scheppke L, Bonelli R, Yannuzzi LA, Friedlander M; MacTel Project Consortium; Egan CA, Fruttiger M, Leppert M, Allikmets R, Bahlo M. Scerri TS, et al. Nat Genet. 2017 Apr;49(4):559-567. doi: 10.1038/ng.3799. Epub 2017 Feb 27. Nat Genet. 2017. PMID: 28250457 Free article.
Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.
Matsunami N, Hadley D, Hensel CH, Christensen GB, Kim C, Frackelton E, Thomas K, da Silva RP, Stevens J, Baird L, Otterud B, Ho K, Varvil T, Leppert T, Lambert CG, Leppert M, Hakonarson H. Matsunami N, et al. PLoS One. 2013;8(1):e52239. doi: 10.1371/journal.pone.0052239. Epub 2013 Jan 14. PLoS One. 2013. PMID: 23341896 Free PMC article.
American founder mutation for attenuated familial adenomatous polyposis.
Neklason DW, Stevens J, Boucher KM, Kerber RA, Matsunami N, Barlow J, Mineau G, Leppert MF, Burt RW. Neklason DW, et al. Among authors: leppert mf. Clin Gastroenterol Hepatol. 2008 Jan;6(1):46-52. doi: 10.1016/j.cgh.2007.09.017. Epub 2007 Dec 11. Clin Gastroenterol Hepatol. 2008. PMID: 18063416 Free PMC article.
448 results