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Page 1
Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, Lönnqvist KE, Holinski-Feder E, Sutter C, McKinnon W, Duraisamy S, Gerdes AM, Peltomäki P, Kohonen-Ccorish M, Mangold E, Macrae F, Greenblatt M, de la Chapelle A, Nyström M. Raevaara TE, et al. Among authors: lohi h. Gastroenterology. 2005 Aug;129(2):537-49. doi: 10.1016/j.gastro.2005.06.005. Gastroenterology. 2005. PMID: 16083711
Germline mutation of RPS20, encoding a ribosomal protein, causes predisposition to hereditary nonpolyposis colorectal carcinoma without DNA mismatch repair deficiency.
Nieminen TT, O'Donohue MF, Wu Y, Lohi H, Scherer SW, Paterson AD, Ellonen P, Abdel-Rahman WM, Valo S, Mecklin JP, Järvinen HJ, Gleizes PE, Peltomäki P. Nieminen TT, et al. Among authors: lohi h. Gastroenterology. 2014 Sep;147(3):595-598.e5. doi: 10.1053/j.gastro.2014.06.009. Epub 2014 Jun 15. Gastroenterology. 2014. PMID: 24941021 Free PMC article.
Identification of a novel idiopathic epilepsy locus in Belgian Shepherd dogs.
Seppälä EH, Koskinen LL, Gulløv CH, Jokinen P, Karlskov-Mortensen P, Bergamasco L, Baranowska Körberg I, Cizinauskas S, Oberbauer AM, Berendt M, Fredholm M, Lohi H. Seppälä EH, et al. Among authors: lohi h. PLoS One. 2012;7(3):e33549. doi: 10.1371/journal.pone.0033549. Epub 2012 Mar 23. PLoS One. 2012. PMID: 22457775 Free PMC article.
Genome-wide association study identifies a novel canine glaucoma locus.
Ahonen SJ, Pietilä E, Mellersh CS, Tiira K, Hansen L, Johnson GS, Lohi H. Ahonen SJ, et al. Among authors: lohi h. PLoS One. 2013 Aug 7;8(8):e70903. doi: 10.1371/journal.pone.0070903. eCollection 2013. PLoS One. 2013. PMID: 23951034 Free PMC article.
LGI2 truncation causes a remitting focal epilepsy in dogs.
Seppälä EH, Jokinen TS, Fukata M, Fukata Y, Webster MT, Karlsson EK, Kilpinen SK, Steffen F, Dietschi E, Leeb T, Eklund R, Zhao X, Rilstone JJ, Lindblad-Toh K, Minassian BA, Lohi H. Seppälä EH, et al. Among authors: lohi h. PLoS Genet. 2011 Jul;7(7):e1002194. doi: 10.1371/journal.pgen.1002194. Epub 2011 Jul 28. PLoS Genet. 2011. PMID: 21829378 Free PMC article.
257 results