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44 results

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Page 1
Congenital secretory diarrhoea caused by activating germline mutations in GUCY2C.
Müller T, Rasool I, Heinz-Erian P, Mildenberger E, Hülstrunk C, Müller A, Michaud L, Koot BG, Ballauff A, Vodopiutz J, Rosipal S, Petersen BS, Franke A, Fuchs I, Witt H, Zoller H, Janecke AR, Visweswariah SS. Müller T, et al. Among authors: petersen bs. Gut. 2016 Aug;65(8):1306-13. doi: 10.1136/gutjnl-2015-309441. Epub 2015 May 20. Gut. 2016. PMID: 25994218 Free PMC article.
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
Zimoń M, Baets J, Almeida-Souza L, De Vriendt E, Nikodinovic J, Parman Y, Battaloğlu E, Matur Z, Guergueltcheva V, Tournev I, Auer-Grumbach M, De Rijk P, Petersen BS, Müller T, Fransen E, Van Damme P, Löscher WN, Barišić N, Mitrovic Z, Previtali SC, Topaloğlu H, Bernert G, Beleza-Meireles A, Todorovic S, Savic-Pavicevic D, Ishpekova B, Lechner S, Peeters K, Ooms T, Hahn AF, Züchner S, Timmerman V, Van Dijck P, Rasic VM, Janecke AR, De Jonghe P, Jordanova A. Zimoń M, et al. Among authors: petersen bs. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
XIAP variants in male Crohn's disease.
Zeissig Y, Petersen BS, Milutinovic S, Bosse E, Mayr G, Peuker K, Hartwig J, Keller A, Kohl M, Laass MW, Billmann-Born S, Brandau H, Feller AC, Röcken C, Schrappe M, Rosenstiel P, Reed JC, Schreiber S, Franke A, Zeissig S. Zeissig Y, et al. Among authors: petersen bs. Gut. 2015 Jan;64(1):66-76. doi: 10.1136/gutjnl-2013-306520. Epub 2014 Feb 26. Gut. 2015. PMID: 24572142
Early-onset Crohn's disease and autoimmunity associated with a variant in CTLA-4.
Zeissig S, Petersen BS, Tomczak M, Melum E, Huc-Claustre E, Dougan SK, Laerdahl JK, Stade B, Forster M, Schreiber S, Weir D, Leichtner AM, Franke A, Blumberg RS. Zeissig S, et al. Among authors: petersen bs. Gut. 2015 Dec;64(12):1889-97. doi: 10.1136/gutjnl-2014-308541. Epub 2014 Nov 3. Gut. 2015. PMID: 25367873 Free PMC article.
New insights into the genetics of glioblastoma multiforme by familial exome sequencing.
Backes C, Harz C, Fischer U, Schmitt J, Ludwig N, Petersen BS, Mueller SC, Kim YJ, Wolf NM, Katus HA, Meder B, Furtwängler R, Franke A, Bohle R, Henn W, Graf N, Keller A, Meese E. Backes C, et al. Among authors: petersen bs. Oncotarget. 2015 Mar 20;6(8):5918-31. doi: 10.18632/oncotarget.2950. Oncotarget. 2015. PMID: 25537509 Free PMC article.
Impaired hepcidin expression in alpha-1-antitrypsin deficiency associated with iron overload and progressive liver disease.
Schaefer B, Haschka D, Finkenstedt A, Petersen BS, Theurl I, Henninger B, Janecke AR, Wang CY, Lin HY, Veits L, Vogel W, Weiss G, Franke A, Zoller H. Schaefer B, et al. Among authors: petersen bs. Hum Mol Genet. 2015 Nov 1;24(21):6254-63. doi: 10.1093/hmg/ddv348. Epub 2015 Aug 26. Hum Mol Genet. 2015. PMID: 26310624 Free PMC article.
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Janecke AR, Heinz-Erian P, Yin J, Petersen BS, Franke A, Lechner S, Fuchs I, Melancon S, Uhlig HH, Travis S, Marinier E, Perisic V, Ristic N, Gerner P, Booth IW, Wedenoja S, Baumgartner N, Vodopiutz J, Frechette-Duval MC, De Lafollie J, Persad R, Warner N, Tse CM, Sud K, Zachos NC, Sarker R, Zhu X, Muise AM, Zimmer KP, Witt H, Zoller H, Donowitz M, Müller T. Janecke AR, et al. Among authors: petersen bs. Hum Mol Genet. 2015 Dec 1;24(23):6614-23. doi: 10.1093/hmg/ddv367. Epub 2015 Sep 10. Hum Mol Genet. 2015. PMID: 26358773 Free PMC article.
44 results