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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 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.
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.
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.
Neuronal ceroid lipofuscinosis (NCL) is caused by the entire deletion of CLN8 in the Alpenländische Dachsbracke dog.
Hirz M, Drögemüller M, Schänzer A, Jagannathan V, Dietschi E, Goebel HH, Hecht W, Laubner S, Schmidt MJ, Steffen F, Hilbe M, Köhler K, Drögemüller C, Herden C. Hirz M, et al. Among authors: dietschi e. Mol Genet Metab. 2017 Mar;120(3):269-277. doi: 10.1016/j.ymgme.2016.12.007. Epub 2016 Dec 19. Mol Genet Metab. 2017. PMID: 28024876
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 Non-Synonymous HMGA2 Variant Decreases Height in Shetland Ponies and Other Small Horses.
Frischknecht M, Jagannathan V, Plattet P, Neuditschko M, Signer-Hasler H, Bachmann I, Pacholewska A, Drögemüller C, Dietschi E, Flury C, Rieder S, Leeb T. Frischknecht M, et al. Among authors: dietschi e. PLoS One. 2015 Oct 16;10(10):e0140749. doi: 10.1371/journal.pone.0140749. eCollection 2015. PLoS One. 2015. PMID: 26474182 Free PMC article.
18 results