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Page 1
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: kammermeier j. 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. Among authors: kammermeier j. 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.
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. 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.
Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up.
Kammermeier J, Lucchini G, Pai SY, Worth A, Rampling D, Amrolia P, Silva J, Chiesa R, Rao K, Noble-Jamieson G, Gasparetto M, Ellershaw D, Uhlig H, Sebire N, Elawad M, Notarangelo L, Shah N, Veys P. Kammermeier J, et al. Blood. 2016 Sep 1;128(9):1306-8. doi: 10.1182/blood-2016-01-696385. Epub 2016 Jul 14. Blood. 2016. PMID: 27418642 Free article. No abstract available.
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: kammermeier j. Inflamm Bowel Dis. 2017 Nov;23(11):1950-1961. doi: 10.1097/MIB.0000000000001270. Inflamm Bowel Dis. 2017. PMID: 29023267
NOX1 loss-of-function genetic variants in patients with inflammatory bowel disease.
Schwerd T, Bryant RV, Pandey S, Capitani M, Meran L, Cazier JB, Jung J, Mondal K, Parkes M, Mathew CG, Fiedler K, McCarthy DJ; WGS500 Consortium; Oxford IBD cohort study investigators; COLORS in IBD group investigators; UK IBD Genetics Consortium; Sullivan PB, Rodrigues A, Travis SPL, Moore C, Sambrook J, Ouwehand WH, Roberts DJ, Danesh J; INTERVAL Study; Russell RK, Wilson DC, Kelsen JR, Cornall R, Denson LA, Kugathasan S, Knaus UG, Serra EG, Anderson CA, Duerr RH, McGovern DP, Cho J, Powrie F, Li VS, Muise AM, Uhlig HH. Schwerd T, et al. Mucosal Immunol. 2018 Mar;11(2):562-574. doi: 10.1038/mi.2017.74. Epub 2017 Nov 1. Mucosal Immunol. 2018. PMID: 29091079 Free PMC article.
Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease.
Serra EG, Schwerd T, Moutsianas L, Cavounidis A, Fachal L, Pandey S, Kammermeier J, Croft NM, Posovszky C, Rodrigues A, Russell RK, Barakat F, Auth MKH, Heuschkel R, Zilbauer M, Fyderek K, Braegger C, Travis SP, Satsangi J, Parkes M, Thapar N, Ferry H, Matte JC, Gilmour KC, Wedrychowicz A, Sullivan P, Moore C, Sambrook J, Ouwehand W, Roberts D, Danesh J, Baeumler TA, Fulga TA, Carrami EM, Ahmed A, Wilson R, Barrett JC, Elkadri A, Griffiths AM; COLORS in IBD group investigators; Oxford IBD cohort study investigators; INTERVAL Study; Swiss IBD cohort investigators; UK IBD Genetics Consortium; NIDDK IBD Genetics Consortium; Snapper SB, Shah N, Muise AM, Wilson DC, Uhlig HH, Anderson CA. Serra EG, et al. Among authors: kammermeier j. Nat Commun. 2020 Feb 21;11(1):995. doi: 10.1038/s41467-019-14275-y. Nat Commun. 2020. PMID: 32081864 Free PMC article.
36 results