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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: janecke ar. 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: janecke ar. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
Hypochloremic metabolic alkalosis and failure to thrive: answer.
Querfeld U, Lechner S, Janecke AR. Querfeld U, et al. Among authors: janecke ar. 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.
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. Among authors: janecke ar. J Pediatr Gastroenterol Nutr. 2011 Jul;53(1):48-54. doi: 10.1097/MPG.0b013e31820bc856. J Pediatr Gastroenterol Nutr. 2011. PMID: 21694535
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: janecke ar. Nat Genet. 2012 Oct;44(10):1080-3. doi: 10.1038/ng.2406. Epub 2012 Sep 9. Nat Genet. 2012. PMID: 22961002
Defining the phenotype in congenital disorder of glycosylation due to ALG1 mutations.
Morava E, Vodopiutz J, Lefeber DJ, Janecke AR, Schmidt WM, Lechner S, Item CB, Sykut-Cegielska J, Adamowicz M, Wierzba J, Zhang ZH, Mihalek I, Stockler S, Bodamer OA, Lehle L, Wevers RA. Morava E, et al. Among authors: janecke ar. Pediatrics. 2012 Oct;130(4):e1034-9. doi: 10.1542/peds.2011-2711. Epub 2012 Sep 10. Pediatrics. 2012. PMID: 22966035
183 results