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Page 1
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: dietschi e. 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.
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: dietschi e. 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.
Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.
Wielaender F, Sarviaho R, James F, Hytönen MK, Cortez MA, Kluger G, Koskinen LL, Arumilli M, Kornberg M, Bathen-Noethen A, Tipold A, Rentmeister K, Bhatti SF, Hülsmeyer V, Boettcher IC, Tästensen C, Flegel T, Dietschi E, Leeb T, Matiasek K, Fischer A, Lohi H. Wielaender F, et al. Among authors: dietschi e. Proc Natl Acad Sci U S A. 2017 Mar 7;114(10):2669-2674. doi: 10.1073/pnas.1614478114. Epub 2017 Feb 21. Proc Natl Acad Sci U S A. 2017. PMID: 28223533 Free PMC article.
A COL11A2 mutation in Labrador retrievers with mild disproportionate dwarfism.
Frischknecht M, Niehof-Oellers H, Jagannathan V, Owczarek-Lipska M, Drögemüller C, Dietschi E, Dolf G, Tellhelm B, Lang J, Tiira K, Lohi H, Leeb T. Frischknecht M, et al. Among authors: dietschi e. PLoS One. 2013;8(3):e60149. doi: 10.1371/journal.pone.0060149. Epub 2013 Mar 20. PLoS One. 2013. PMID: 23527306 Free PMC article.
A Multi-Breed Genome-Wide Association Analysis for Canine Hypothyroidism Identifies a Shared Major Risk Locus on CFA12.
Bianchi M, Dahlgren S, Massey J, Dietschi E, Kierczak M, Lund-Ziener M, Sundberg K, Thoresen SI, Kämpe O, Andersson G, Ollier WE, Hedhammar Å, Leeb T, Lindblad-Toh K, Kennedy LJ, Lingaas F, Rosengren Pielberg G. Bianchi M, et al. Among authors: dietschi e. PLoS One. 2015 Aug 11;10(8):e0134720. doi: 10.1371/journal.pone.0134720. eCollection 2015. PLoS One. 2015. PMID: 26261983 Free PMC article.
An ADAMTS3 missense variant is associated with Norwich Terrier upper airway syndrome.
Marchant TW, Dietschi E, Rytz U, Schawalder P, Jagannathan V, Hadji Rasouliha S, Gurtner C, Waldvogel AS, Harrington RS, Drögemüller M, Kidd J, Ostrander EA, Warr A, Watson M, Argyle D, Ter Haar G, Clements DN, Leeb T, Schoenebeck JJ. Marchant TW, et al. Among authors: dietschi e. PLoS Genet. 2019 May 16;15(5):e1008102. doi: 10.1371/journal.pgen.1008102. eCollection 2019 May. PLoS Genet. 2019. PMID: 31095560 Free PMC article.
A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).
Mauri N, Kleiter M, Dietschi E, Leschnik M, Högler S, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. Mauri N, et al. Among authors: dietschi e. G3 (Bethesda). 2017 Aug 7;7(8):2729-2737. doi: 10.1534/g3.117.043018. G3 (Bethesda). 2017. PMID: 28620085 Free PMC article.
A de novo variant in the ASPRV1 gene in a dog with ichthyosis.
Bauer A, Waluk DP, Galichet A, Timm K, Jagannathan V, Sayar BS, Wiener DJ, Dietschi E, Müller EJ, Roosje P, Welle MM, Leeb T. Bauer A, et al. Among authors: dietschi e. PLoS Genet. 2017 Mar 1;13(3):e1006651. doi: 10.1371/journal.pgen.1006651. eCollection 2017 Mar. PLoS Genet. 2017. PMID: 28249031 Free PMC article.
A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).
Mauri N, Kleiter M, Leschnik M, Högler S, Dietschi E, Wiedmer M, Dietrich J, Henke D, Steffen F, Schuller S, Gurtner C, Stokar-Regenscheit N, O'Toole D, Bilzer T, Herden C, Oevermann A, Jagannathan V, Leeb T. Mauri N, et al. Among authors: dietschi e. G3 (Bethesda). 2017 Feb 9;7(2):663-669. doi: 10.1534/g3.116.038455. G3 (Bethesda). 2017. PMID: 28007838 Free PMC article.
18 results