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102 results

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Page 1
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis.
Rivas MA, Graham D, Sulem P, Stevens C, Desch AN, Goyette P, Gudbjartsson D, Jonsdottir I, Thorsteinsdottir U, Degenhardt F, Mucha S, Kurki MI, Li D, D'Amato M, Annese V, Vermeire S, Weersma RK, Halfvarson J, Paavola-Sakki P, Lappalainen M, Lek M, Cummings B, Tukiainen T, Haritunians T, Halme L, Koskinen LL, Ananthakrishnan AN, Luo Y, Heap GA, Visschedijk MC; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; MacArthur DG, Neale BM, Ahmad T, Anderson CA, Brant SR, Duerr RH, Silverberg MS, Cho JH, Palotie A, Saavalainen P, Kontula K, Färkkilä M, McGovern DP, Franke A, Stefansson K, Rioux JD, Xavier RJ, Daly MJ, Barrett J, de Lane K, Edwards C, Hart A, Hawkey C, Jostins L, Kennedy N, Lamb C, Lee J, Lees C, Mansfield J, Mathew C, Mowatt C, Newman B, Nimmo E, Parkes M, Pollard M, Prescott N, Randall J, Rice D, Satsangi J, Simmons A, Tremelling M, Uhlig H, Wilson D, Abraham C, Achkar JP, Bitton A, Boucher G, Croitoru K, Fleshner P, Glas J, Kugathasan S, Limbergen JV, Milgrom R, Proctor D, Regueiro M, Schumm PL, Sharma Y, Stempak JM, Targan SR, Wang MH. Rivas MA, et al. Among authors: saavalainen p. Nat Commun. 2016 Aug 9;7:12342. doi: 10.1038/ncomms12342. Nat Commun. 2016. PMID: 27503255 Free PMC article.
Myosin IXB gene region and gluten intolerance: linkage to coeliac disease and a putative dermatitis herpetiformis association.
Koskinen LL, Korponay-Szabo IR, Viiri K, Juuti-Uusitalo K, Kaukinen K, Lindfors K, Mustalahti K, Kurppa K, Adány R, Pocsai Z, Széles G, Einarsdottir E, Wijmenga C, Mäki M, Partanen J, Kere J, Saavalainen P. Koskinen LL, et al. Among authors: saavalainen p. J Med Genet. 2008 Apr;45(4):222-7. doi: 10.1136/jmg.2007.053991. Epub 2007 Dec 12. J Med Genet. 2008. PMID: 18077767
Association study of the IL18RAP locus in three European populations with coeliac disease.
Koskinen LL, Einarsdottir E, Dukes E, Heap GA, Dubois P, Korponay-Szabo IR, Kaukinen K, Kurppa K, Ziberna F, Vatta S, Not T, Ventura A, Sistonen P, Adány R, Pocsai Z, Széles G, Mäki M, Kere J, Wijmenga C, van Heel DA, Saavalainen P. Koskinen LL, et al. Among authors: saavalainen p. Hum Mol Genet. 2009 Mar 15;18(6):1148-55. doi: 10.1093/hmg/ddn438. Epub 2008 Dec 22. Hum Mol Genet. 2009. PMID: 19103669
IL23R in the Swedish, Finnish, Hungarian and Italian populations: association with IBD and psoriasis, and linkage to celiac disease.
Einarsdottir E, Koskinen LL, Dukes E, Kainu K, Suomela S, Lappalainen M, Ziberna F, Korponay-Szabo IR, Kurppa K, Kaukinen K, Adány R, Pocsai Z, Széles G, Färkkilä M, Turunen U, Halme L, Paavola-Sakki P, Not T, Vatta S, Ventura A, Löfberg R, Torkvist L, Bresso F, Halfvarson J, Mäki M, Kontula K, Saarialho-Kere U, Kere J, D'Amato M, Saavalainen P. Einarsdottir E, et al. Among authors: saavalainen p. BMC Med Genet. 2009 Jan 28;10:8. doi: 10.1186/1471-2350-10-8. BMC Med Genet. 2009. PMID: 19175939 Free PMC article.
Multiple common variants for celiac disease influencing immune gene expression.
Dubois PC, Trynka G, Franke L, Hunt KA, Romanos J, Curtotti A, Zhernakova A, Heap GA, Adány R, Aromaa A, Bardella MT, van den Berg LH, Bockett NA, de la Concha EG, Dema B, Fehrmann RS, Fernández-Arquero M, Fiatal S, Grandone E, Green PM, Groen HJ, Gwilliam R, Houwen RH, Hunt SE, Kaukinen K, Kelleher D, Korponay-Szabo I, Kurppa K, MacMathuna P, Mäki M, Mazzilli MC, McCann OT, Mearin ML, Mein CA, Mirza MM, Mistry V, Mora B, Morley KI, Mulder CJ, Murray JA, Núñez C, Oosterom E, Ophoff RA, Polanco I, Peltonen L, Platteel M, Rybak A, Salomaa V, Schweizer JJ, Sperandeo MP, Tack GJ, Turner G, Veldink JH, Verbeek WH, Weersma RK, Wolters VM, Urcelay E, Cukrowska B, Greco L, Neuhausen SL, McManus R, Barisani D, Deloukas P, Barrett JC, Saavalainen P, Wijmenga C, van Heel DA. Dubois PC, et al. Among authors: saavalainen p. Nat Genet. 2010 Apr;42(4):295-302. doi: 10.1038/ng.543. Epub 2010 Feb 28. Nat Genet. 2010. PMID: 20190752 Free PMC article.
Celiac disease without villous atrophy in children: a prospective study.
Kurppa K, Ashorn M, Iltanen S, Koskinen LL, Saavalainen P, Koskinen O, Mäki M, Kaukinen K. Kurppa K, et al. Among authors: saavalainen p. J Pediatr. 2010 Sep;157(3):373-80, 380.e1. doi: 10.1016/j.jpeds.2010.02.070. Epub 2010 Apr 18. J Pediatr. 2010. PMID: 20400102
Multiple independent variants in 6q21-22 associated with susceptibility to celiac disease in the Dutch, Finnish and Hungarian populations.
Einarsdottir E, Bevova MR, Zhernakova A, Monsuur A, Koskinen LL, van't Slot R, Mulder C, Mearin ML, Korponay-Szabo IR, Kaukinen K, Kurppa K, Kere J, Mäki M, Wijmenga C, Saavalainen P. Einarsdottir E, et al. Among authors: saavalainen p. Eur J Hum Genet. 2011 Jun;19(6):682-6. doi: 10.1038/ejhg.2011.2. Epub 2011 Feb 16. Eur J Hum Genet. 2011. PMID: 21326284 Free PMC article.
Functional polymorphism in IL12B promoter site is associated with ulcerative colitis.
Szperl A, Saavalainen P, Weersma RK, Lappalainen M, Paavola-Sakki P, Halme L, Färkkilä M, Turunen U, Kontula K, Ponsioen CY, Wijmenga C, van Diemen CC. Szperl A, et al. Among authors: saavalainen p. Inflamm Bowel Dis. 2011 Jun;17(6):E38-40. doi: 10.1002/ibd.21670. Epub 2011 Feb 23. Inflamm Bowel Dis. 2011. PMID: 21351215 No abstract available.
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