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Mutations in tetratricopeptide repeat domain 7A result in a severe form of very early onset inflammatory bowel disease.
Avitzur Y, Guo C, Mastropaolo LA, Bahrami E, Chen H, Zhao Z, Elkadri A, Dhillon S, Murchie R, Fattouh R, Huynh H, Walker JL, Wales PW, Cutz E, Kakuta Y, Dudley J, Kammermeier J, Powrie F, Shah N, Walz C, Nathrath M, Kotlarz D, Puchaka J, Krieger JR, Racek T, Kirchner T, Walters TD, Brumell JH, Griffiths AM, Rezaei N, Rashtian P, Najafi M, Monajemzadeh M, Pelsue S, McGovern DP, Uhlig HH, Schadt E, Klein C, Snapper SB, Muise AM. Avitzur Y, et al. Among authors: uhlig hh. Gastroenterology. 2014 Apr;146(4):1028-39. doi: 10.1053/j.gastro.2014.01.015. Epub 2014 Jan 11. Gastroenterology. 2014. PMID: 24417819 Free PMC article.
The diagnostic approach to monogenic very early onset inflammatory bowel disease.
Uhlig HH, Schwerd T, Koletzko S, Shah N, Kammermeier J, Elkadri A, Ouahed J, Wilson DC, Travis SP, Turner D, Klein C, Snapper SB, Muise AM; COLORS in IBD Study Group and NEOPICS. Uhlig HH, et al. Gastroenterology. 2014 Nov;147(5):990-1007.e3. doi: 10.1053/j.gastro.2014.07.023. Epub 2014 Jul 21. Gastroenterology. 2014. PMID: 25058236 Free PMC article. Review.
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: uhlig hh. 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.
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: uhlig hh. 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.
Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.
Kammermeier J, Dziubak R, Pescarin M, Drury S, Godwin H, Reeve K, Chadokufa S, Huggett B, Sider S, James C, Acton N, Cernat E, Gasparetto M, Noble-Jamieson G, Kiparissi F, Elawad M, Beales PL, Sebire NJ, Gilmour K, Uhlig HH, Bacchelli C, Shah N. Kammermeier J, et al. Among authors: uhlig hh. J Crohns Colitis. 2017 Jan;11(1):60-69. doi: 10.1093/ecco-jcc/jjw118. Epub 2016 Jun 14. J Crohns Colitis. 2017. PMID: 27302973 Free PMC article.
Vedolizumab in Paediatric Inflammatory Bowel Disease: A Retrospective Multi-Centre Experience From the Paediatric IBD Porto Group of ESPGHAN.
Ledder O, Assa A, Levine A, Escher JC, de Ridder L, Ruemmele F, Shah N, Shaoul R, Wolters VM, Rodrigues A, Uhlig HH, Posovszky C, Kolho KL, Jakobsen C, Cohen S, Shouval DS, de Meij T, Martin-de-Carpi J, Richmond L, Bronsky J, Friedman M, Turner D. Ledder O, et al. Among authors: uhlig hh. J Crohns Colitis. 2017 Oct 1;11(10):1230-1237. doi: 10.1093/ecco-jcc/jjx082. J Crohns Colitis. 2017. PMID: 28605483
Enhanced TH17 Responses in Patients with IL10 Receptor Deficiency and Infantile-onset IBD.
Shouval DS, Konnikova L, Griffith AE, Wall SM, Biswas A, Werner L, Nunberg M, Kammermeier J, Goettel JA, Anand R, Chen H, Weiss B, Li J, Loizides A, Yerushalmi B, Yanagi T, Beier R, Conklin LS, Ebens CL, Santos FGMS, Sherlock M, Goldsmith JD, Kotlarz D, Glover SC, Shah N, Bousvaros A, Uhlig HH, Muise AM, Klein C, Snapper SB. Shouval DS, et al. Among authors: uhlig hh. Inflamm Bowel Dis. 2017 Nov;23(11):1950-1961. doi: 10.1097/MIB.0000000000001270. Inflamm Bowel Dis. 2017. PMID: 29023267
175 results