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Page 1
Gain-of-function CEBPE mutation causes noncanonical autoinflammatory inflammasomopathy.
Göös H, Fogarty CL, Sahu B, Plagnol V, Rajamäki K, Nurmi K, Liu X, Einarsdottir E, Jouppila A, Pettersson T, Vihinen H, Krjutskov K, Saavalainen P, Järvinen A, Muurinen M, Greco D, Scala G, Curtis J, Nordström D, Flaumenhaft R, Vaarala O, Kovanen PE, Keskitalo S, Ranki A, Kere J, Lehto M, Notarangelo LD, Nejentsev S, Eklund KK, Varjosalo M, Taipale J, Seppänen MRJ. Göös H, et al. Among authors: saavalainen p. J Allergy Clin Immunol. 2019 Nov;144(5):1364-1376. doi: 10.1016/j.jaci.2019.06.003. Epub 2019 Jun 13. J Allergy Clin Immunol. 2019. PMID: 31201888 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
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.
Genome-wide analysis of extended pedigrees confirms IL2-IL21 linkage and shows additional regions of interest potentially influencing coeliac disease risk.
Einarsdottir E, Koskinen LL, de Kauwe AL, Dukes E, Mustalahti K, Balogh M, Korponay-Szabo IR, Kaukinen K, Kurppa K, Adány R, Pocsai Z, Széles G, Mäki M, Kere J, Saavalainen P. Einarsdottir E, et al. Among authors: saavalainen p. Tissue Antigens. 2011 Dec;78(6):428-37. doi: 10.1111/j.1399-0039.2011.01791.x. Tissue Antigens. 2011. PMID: 22077623 Clinical Trial.
Analysis of Complement C3 Gene Reveals Susceptibility to Severe Preeclampsia.
Lokki AI, Kaartokallio T, Holmberg V, Onkamo P, Koskinen LLE, Saavalainen P, Heinonen S, Kajantie E, Kere J, Kivinen K, Pouta A, Villa PM, Hiltunen L, Laivuori H, Meri S. Lokki AI, et al. Among authors: saavalainen p. Front Immunol. 2017 May 29;8:589. doi: 10.3389/fimmu.2017.00589. eCollection 2017. Front Immunol. 2017. PMID: 28611769 Free PMC article.
102 results