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Page 1
Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease.
Li Q, Lee CH, Peters LA, Mastropaolo LA, Thoeni C, Elkadri A, Schwerd T, Zhu J, Zhang B, Zhao Y, Hao K, Dinarzo A, Hoffman G, Kidd BA, Murchie R, Al Adham Z, Guo C, Kotlarz D, Cutz E, Walters TD, Shouval DS, Curran M, Dobrin R, Brodmerkel C, Snapper SB, Klein C, Brumell JH, Hu M, Nanan R, Snanter-Nanan B, Wong M, Le Deist F, Haddad E, Roifman CM, Deslandres C, Griffiths AM, Gaskin KJ, Uhlig HH, Schadt EE, Muise AM. Li Q, et al. Among authors: thoeni c. Gastroenterology. 2016 May;150(5):1196-1207. doi: 10.1053/j.gastro.2016.01.031. Epub 2016 Feb 4. Gastroenterology. 2016. PMID: 26836588 Free PMC article.
Mutations in Plasmalemma Vesicle Associated Protein Result in Sieving Protein-Losing Enteropathy Characterized by Hypoproteinemia, Hypoalbuminemia, and Hypertriglyceridemia.
Elkadri A, Thoeni C, Deharvengt SJ, Murchie R, Guo C, Stavropoulos JD, Marshall CR, Wales P, Bandsma R, Cutz E, Roifman CM, Chitayat D, Avitzur Y, Stan RV, Muise AM. Elkadri A, et al. Among authors: thoeni c. Cell Mol Gastroenterol Hepatol. 2015 Jul;1(4):381-394.e7. doi: 10.1016/j.jcmgh.2015.05.001. Cell Mol Gastroenterol Hepatol. 2015. PMID: 26207260 Free PMC article.
Defects in NADPH Oxidase Genes NOX1 and DUOX2 in Very Early Onset Inflammatory Bowel Disease.
Hayes P, Dhillon S, O'Neill K, Thoeni C, Hui KY, Elkadri A, Guo CH, Kovacic L, Aviello G, Alvarez LA, Griffiths AM, Snapper SB, Brant SR, Doroshow JH, Silverberg MS, Peter I, McGovern DP, Cho J, Brumell JH, Uhlig HH, Bourke B, Muise AA, Knaus UG. Hayes P, et al. Among authors: thoeni c. Cell Mol Gastroenterol Hepatol. 2015 Sep 1;1(5):489-502. doi: 10.1016/j.jcmgh.2015.06.005. Cell Mol Gastroenterol Hepatol. 2015. PMID: 26301257 Free PMC article.
Loss of the Arp2/3 complex component ARPC1B causes platelet abnormalities and predisposes to inflammatory disease.
Kahr WH, Pluthero FG, Elkadri A, Warner N, Drobac M, Chen CH, Lo RW, Li L, Li R, Li Q, Thoeni C, Pan J, Leung G, Lara-Corrales I, Murchie R, Cutz E, Laxer RM, Upton J, Roifman CM, Yeung RS, Brumell JH, Muise AM. Kahr WH, et al. Among authors: thoeni c. Nat Commun. 2017 Apr 3;8:14816. doi: 10.1038/ncomms14816. Nat Commun. 2017. PMID: 28368018 Free PMC article.
Expression Analysis of ATP-Binding Cassette Transporters ABCB11 and ABCB4 in Primary Sclerosing Cholangitis and Variety of Pediatric and Adult Cholestatic and Noncholestatic Liver Diseases.
Thoeni C, Waldherr R, Scheuerer J, Schmitteckert S, Roeth R, Niesler B, Cutz E, Flechtenmacher C, Goeppert B, Schirmacher P, Lasitschka F. Thoeni C, et al. Can J Gastroenterol Hepatol. 2019 Dec 10;2019:1085717. doi: 10.1155/2019/1085717. eCollection 2019. Can J Gastroenterol Hepatol. 2019. PMID: 31886153 Free PMC article.
Renal Tubular Dysgenesis in a Case of Fetus Acardius Amorphus.
Thoeni C, Holzer K, Leichsenring J, Porcel C, Straub BK, Sinn HP, Elsaesser M, Volckmar AL, Schirmacher P, Waldherr R, Lasitschka F. Thoeni C, et al. Case Rep Pathol. 2019 Nov 12;2019:5416936. doi: 10.1155/2019/5416936. eCollection 2019. Case Rep Pathol. 2019. PMID: 31781459 Free PMC article.
19 results