Lohi H - Search Results

1

A truncating mutation in ATP13A2 is responsible for adult-onset neuronal ceroid lipofuscinosis in Tibetan terriers.

Farias FH, Zeng R, Johnson GS, Wininger FA, Taylor JF, Schnabel RD, McKay SD, Sanders DN, Lohi H, Seppälä EH, Wade CM, Lindblad-Toh K, O'Brien DP, Katz ML. Farias FH, et al. Among authors: lohi h. Neurobiol Dis. 2011 Jun;42(3):468-74. doi: 10.1016/j.nbd.2011.02.009. Epub 2011 Feb 26. Neurobiol Dis. 2011. PMID: 21362476

2

A mutation in hairless dogs implicates FOXI3 in ectodermal development.

Drögemüller C, Karlsson EK, Hytönen MK, Perloski M, Dolf G, Sainio K, Lohi H, Lindblad-Toh K, Leeb T. Drögemüller C, et al. Among authors: lohi h. Science. 2008 Sep 12;321(5895):1462. doi: 10.1126/science.1162525. Science. 2008. PMID: 18787161

3

Genome-wide association mapping identifies multiple loci for a canine SLE-related disease complex.

Wilbe M, Jokinen P, Truvé K, Seppala EH, Karlsson EK, Biagi T, Hughes A, Bannasch D, Andersson G, Hansson-Hamlin H, Lohi H, Lindblad-Toh K. Wilbe M, et al. Among authors: lohi h. Nat Genet. 2010 Mar;42(3):250-4. doi: 10.1038/ng.525. Epub 2010 Jan 31. Nat Genet. 2010. PMID: 20101241

4

An ADAMTS17 splice donor site mutation in dogs with primary lens luxation.

Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P, O'Leary CA, Pettitt L, Forman OP, Boursnell M, McLaughlin B, Ahonen S, Lohi H, Hernandez-Merino E, Gould DJ, Sargan DR, Mellersh C. Farias FH, et al. Among authors: lohi h. Invest Ophthalmol Vis Sci. 2010 Sep;51(9):4716-21. doi: 10.1167/iovs.09-5142. Epub 2010 Apr 7. Invest Ophthalmol Vis Sci. 2010. PMID: 20375329

5

Segregation of point mutation heteroplasmy in the control region of dog mtDNA studied systematically in deep generation pedigrees.

Klütsch CF, Seppälä EH, Uhlén M, Lohi H, Savolainen P. Klütsch CF, et al. Among authors: lohi h. Int J Legal Med. 2011 Jul;125(4):527-35. doi: 10.1007/s00414-010-0524-7. Epub 2010 Nov 4. Int J Legal Med. 2011. PMID: 21049272 Free PMC article. Review.

6

Assessment of the functionality of genome-wide canine SNP arrays and implications for canine disease association studies.

Ke X, Kennedy LJ, Short AD, Seppälä EH, Barnes A, Clements DN, Wood SH, Carter SD, Happ GM, Lohi H, Ollier WE. Ke X, et al. Among authors: lohi h. Anim Genet. 2011 Apr;42(2):181-90. doi: 10.1111/j.1365-2052.2010.02132.x. Epub 2010 Nov 11. Anim Genet. 2011. PMID: 21070295

7

A novel mutation in the maternally imprinted PEG3 domain results in a loss of MIMT1 expression and causes abortions and stillbirths in cattle (Bos taurus).

Flisikowski K, Venhoranta H, Nowacka-Woszuk J, McKay SD, Flyckt A, Taponen J, Schnabel R, Schwarzenbacher H, Szczerbal I, Lohi H, Fries R, Taylor JF, Switonski M, Andersson M. Flisikowski K, et al. Among authors: lohi h. PLoS One. 2010 Nov 30;5(11):e15116. doi: 10.1371/journal.pone.0015116. PLoS One. 2010. PMID: 21152099 Free PMC article.

8

LUPA: a European initiative taking advantage of the canine genome architecture for unravelling complex disorders in both human and dogs.

Lequarré AS, Andersson L, André C, Fredholm M, Hitte C, Leeb T, Lohi H, Lindblad-Toh K, Georges M. Lequarré AS, et al. Among authors: lohi h. Vet J. 2011 Aug;189(2):155-9. doi: 10.1016/j.tvjl.2011.06.013. Epub 2011 Jul 12. Vet J. 2011. PMID: 21752675 Free article. Review.

9

Identification of genomic regions associated with phenotypic variation between dog breeds using selection mapping.

Vaysse A, Ratnakumar A, Derrien T, Axelsson E, Rosengren Pielberg G, Sigurdsson S, Fall T, Seppälä EH, Hansen MS, Lawley CT, Karlsson EK; LUPA Consortium; Bannasch D, Vilà C, Lohi H, Galibert F, Fredholm M, Häggström J, Hedhammar A, André C, Lindblad-Toh K, Hitte C, Webster MT. Vaysse A, et al. Among authors: lohi h. PLoS Genet. 2011 Oct;7(10):e1002316. doi: 10.1371/journal.pgen.1002316. Epub 2011 Oct 13. PLoS Genet. 2011. PMID: 22022279 Free PMC article.

10

A missense change in the ATG4D gene links aberrant autophagy to a neurodegenerative vacuolar storage disease.

Kyöstilä K, Syrjä P, Jagannathan V, Chandrasekar G, Jokinen TS, Seppälä EH, Becker D, Drögemüller M, Dietschi E, Drögemüller C, Lang J, Steffen F, Rohdin C, Jäderlund KH, Lappalainen AK, Hahn K, Wohlsein P, Baumgärtner W, Henke D, Oevermann A, Kere J, Lohi H, Leeb T. Kyöstilä K, et al. Among authors: lohi h. PLoS Genet. 2015 Apr 15;11(4):e1005169. doi: 10.1371/journal.pgen.1005169. eCollection 2015 Apr. PLoS Genet. 2015. PMID: 25875846 Free PMC article.

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