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Page 1
The canine copper toxicosis gene MURR1 does not cause non-Wilsonian hepatic copper toxicosis.
Müller T, van de Sluis B, Zhernakova A, van Binsbergen E, Janecke AR, Bavdekar A, Pandit A, Weirich-Schwaiger H, Witt H, Ellemunter H, Deutsch J, Denk H, Müller W, Sternlieb I, Tanner MS, Wijmenga C. Müller T, et al. Among authors: witt h. J Hepatol. 2003 Feb;38(2):164-8. doi: 10.1016/s0168-8278(02)00356-2. J Hepatol. 2003. PMID: 12547404
Highly Elevated Plasma γ-Glutamyltransferase Elevations: A Trait Caused by γ-Glutamyltransferase 1 Transmembrane Mutations.
De Grandi A, Franzini M, Rosipal Š, Rosipal R, Debreova M, Corti A, Ruetzler-Dichtl E, Scholl-Bürgi S, Paolicchi A, Pompella A, Emdin M, Zampa G, Witt H, Zoller H, Tilg H, Mayatepek E, Herebian D, Pramstaller PP, Müller T, Janecke AR. De Grandi A, et al. Among authors: witt h. Hepatology. 2020 Mar;71(3):1124-1127. doi: 10.1002/hep.30944. Epub 2019 Oct 28. Hepatology. 2020. PMID: 31520399 Free PMC article. No abstract available.
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: witt h. Gut. 2016 Aug;65(8):1306-13. doi: 10.1136/gutjnl-2015-309441. Epub 2015 May 20. Gut. 2016. PMID: 25994218 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: witt h. 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.
Variants in CPA1 are strongly associated with early onset chronic pancreatitis.
Witt H, Beer S, Rosendahl J, Chen JM, Chandak GR, Masamune A, Bence M, Szmola R, Oracz G, Macek M Jr, Bhatia E, Steigenberger S, Lasher D, Bühler F, Delaporte C, Tebbing J, Ludwig M, Pilsak C, Saum K, Bugert P, Masson E, Paliwal S, Bhaskar S, Sobczynska-Tomaszewska A, Bak D, Balascak I, Choudhuri G, Nageshwar Reddy D, Rao GV, Thomas V, Kume K, Nakano E, Kakuta Y, Shimosegawa T, Durko L, Szabó A, Schnúr A, Hegyi P, Rakonczay Z Jr, Pfützer R, Schneider A, Groneberg DA, Braun M, Schmidt H, Witt U, Friess H, Algül H, Landt O, Schuelke M, Krüger R, Wiedenmann B, Schmidt F, Zimmer KP, Kovacs P, Stumvoll M, Blüher M, Müller T, Janecke A, Teich N, Grützmann R, Schulz HU, Mössner J, Keim V, Löhr M, Férec C, Sahin-Tóth M. Witt H, et al. Among authors: witt u. Nat Genet. 2013 Oct;45(10):1216-20. doi: 10.1038/ng.2730. Epub 2013 Aug 18. Nat Genet. 2013. PMID: 23955596 Free PMC article.
Genome-wide association study identifies inversion in the CTRB1-CTRB2 locus to modify risk for alcoholic and non-alcoholic chronic pancreatitis.
Rosendahl J, Kirsten H, Hegyi E, Kovacs P, Weiss FU, Laumen H, Lichtner P, Ruffert C, Chen JM, Masson E, Beer S, Zimmer C, Seltsam K, Algül H, Bühler F, Bruno MJ, Bugert P, Burkhardt R, Cavestro GM, Cichoz-Lach H, Farré A, Frank J, Gambaro G, Gimpfl S, Grallert H, Griesmann H, Grützmann R, Hellerbrand C, Hegyi P, Hollenbach M, Iordache S, Jurkowska G, Keim V, Kiefer F, Krug S, Landt O, Leo MD, Lerch MM, Lévy P, Löffler M, Löhr M, Ludwig M, Macek M, Malats N, Malecka-Panas E, Malerba G, Mann K, Mayerle J, Mohr S, Te Morsche RHM, Motyka M, Mueller S, Müller T, Nöthen MM, Pedrazzoli S, Pereira SP, Peters A, Pfützer R, Real FX, Rebours V, Ridinger M, Rietschel M, Rösmann E, Saftoiu A, Schneider A, Schulz HU, Soranzo N, Soyka M, Simon P, Skipworth J, Stickel F, Strauch K, Stumvoll M, Testoni PA, Tönjes A, Werner L, Werner J, Wodarz N, Ziegler M, Masamune A, Mössner J, Férec C, Michl P, P H Drenth J, Witt H, Scholz M, Sahin-Tóth M; all members of the PanEuropean Working group on ACP. Rosendahl J, et al. Among authors: witt h. Gut. 2018 Oct;67(10):1855-1863. doi: 10.1136/gutjnl-2017-314454. Epub 2017 Jul 28. Gut. 2018. PMID: 28754779 Free PMC article.
Protease-Sensitive Pancreatic Lipase Variants Are Associated With Early Onset Chronic Pancreatitis.
Lasher D, Szabó A, Masamune A, Chen JM, Xiao X, Whitcomb DC, Barmada MM, Ewers M, Ruffert C, Paliwal S, Issarapu P, Bhaskar S, Mani KR, Chandak GR, Laumen H, Masson E, Kume K, Hamada S, Nakano E, Seltsam K, Bugert P, Müller T, Groneberg DA, Shimosegawa T, Rosendahl J, Férec C, Lowe ME, Witt H, Sahin-Tóth M. Lasher D, et al. Among authors: witt h. Am J Gastroenterol. 2019 Jun;114(6):974-983. doi: 10.14309/ajg.0000000000000051. Am J Gastroenterol. 2019. PMID: 30789418 Free PMC article.
Evaluation of complement factor 5 variants as genetic risk factors for the development of advanced fibrosis in chronic hepatitis C infection.
Halangk J, Sarrazin C, Neumann K, Puhl G, Mueller T, Teuber G, Klinker H, Hinrichsen H, Buggisch P, Landt O, Weich V, Bergk A, Wiedenmann B, Neuhaus P, Berg T, Witt H. Halangk J, et al. Among authors: witt h. J Hepatol. 2008 Sep;49(3):339-45. doi: 10.1016/j.jhep.2008.05.021. Epub 2008 Jun 23. J Hepatol. 2008. PMID: 18644651
479 results