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A new, X-linked endothelial corneal dystrophy.
Schmid E, Lisch W, Philipp W, Lechner S, Göttinger W, Schlötzer-Schrehardt U, Müller T, Utermann G, Janecke AR. Schmid E, et al. Among authors: lechner s. Am J Ophthalmol. 2006 Mar;141(3):478-487. doi: 10.1016/j.ajo.2005.10.020. Am J Ophthalmol. 2006. PMID: 16490493
MYO5B mutations cause microvillus inclusion disease and disrupt epithelial cell polarity.
Müller T, Hess MW, Schiefermeier N, Pfaller K, Ebner HL, Heinz-Erian P, Ponstingl H, Partsch J, Röllinghoff B, Köhler H, Berger T, Lenhartz H, Schlenck B, Houwen RJ, Taylor CJ, Zoller H, Lechner S, Goulet O, Utermann G, Ruemmele FM, Huber LA, Janecke AR. Müller T, et al. Among authors: lechner s. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
Significance of molecular testing for congenital chloride diarrhea.
Lechner S, Ruemmele FM, Zankl A, Lausch E, Huber WD, Mihatsch W, Phillips AD, Lewindon P, Querfeld U, Heinz-Erian P, Müller T, Janecke AR. Lechner S, et al. J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856. J Pediatr Gastroenterol Nutr. 2011. PMID: 21694535
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: lechner s. 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.
Hypochloremic metabolic alkalosis and failure to thrive: answer.
Querfeld U, Lechner S, Janecke AR. Querfeld U, et al. Among authors: lechner s. Pediatr Nephrol. 2011 Jun;26(6):895-6. doi: 10.1007/s00467-010-1667-y. Epub 2010 Oct 28. Pediatr Nephrol. 2011. PMID: 20981452 No abstract available.
285 results