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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. Nat Genet. 2008 Oct;40(10):1163-5. doi: 10.1038/ng.225. Epub 2008 Aug 24. Nat Genet. 2008. PMID: 18724368
Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3.
Haberlandt E, Löffler J, Hirst-Stadlmann A, Stöckl B, Judmaier W, Fischer H, Heinz-Erian P, Müller T, Utermann G, Smith RJ, Janecke AR. Haberlandt E, et al. Among authors: muller t. J Med Genet. 2001 Jun;38(6):405-9. doi: 10.1136/jmg.38.6.405. J Med Genet. 2001. PMID: 11424924 Free PMC article. No abstract available.
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: muller w. J Hepatol. 2003 Feb;38(2):164-8. doi: 10.1016/s0168-8278(02)00356-2. J Hepatol. 2003. PMID: 12547404
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
Frühwirth M, Janecke AR, Müller T, Carlton VE, Kronenberg F, Offner F, Knisely AS, Geleff S, Song EJ, Simma B, Königsrainer A, Margreiter R, van der Hagen CB, Eiklid K, Aagenaes O, Bull L, Ellemunter H. Frühwirth M, et al. Among authors: muller t. J Pediatr. 2003 Apr;142(4):441-7. doi: 10.1067/mpd.2003.148. J Pediatr. 2003. PMID: 12712065
Joubert-like syndrome unlinked to known candidate loci.
Janecke AR, Müller T, Gassner I, Kreczy A, Schmid E, Kronenberg F, Utermann B, Utermann G. Janecke AR, et al. Among authors: muller t. J Pediatr. 2004 Feb;144(2):264-9. doi: 10.1016/j.jpeds.2003.11.010. J Pediatr. 2004. PMID: 14760273
Immunohistochemical analysis of Mallory bodies in Wilsonian and non-Wilsonian hepatic copper toxicosis.
Müller T, Langner C, Fuchsbichler A, Heinz-Erian P, Ellemunter H, Schlenck B, Bavdekar AR, Pradhan AM, Pandit A, Müller-Höcker J, Melter M, Kobayashi K, Nagasaka H, Kikuta H, Müller W, Tanner MS, Sternlieb I, Zatloukal K, Denk H. Müller T, et al. Among authors: muller w, muller hocker j. Hepatology. 2004 Apr;39(4):963-9. doi: 10.1002/hep.20108. Hepatology. 2004. PMID: 15057900
4,357 results