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Multiocular defect in the Old English Sheepdog: A canine form of Stickler syndrome type II associated with a missense variant in the collagen-type gene COL11A1.
Stanbury K, Stavinohova R, Pettitt L, Dixon C, Schofield EC, Mclaughlin B, Pettinen I, Lohi H, Ricketts SL, Oliver JA, Mellersh CS. Stanbury K, et al. Among authors: ricketts sl. PLoS One. 2023 Dec 28;18(12):e0295851. doi: 10.1371/journal.pone.0295851. eCollection 2023. PLoS One. 2023. PMID: 38153936 Free PMC article.
A synonymous germline variant in a gene encoding a cell adhesion molecule is associated with cutaneous mast cell tumour development in Labrador and Golden Retrievers.
Biasoli D, Compston-Garnett L, Ricketts SL, Birand Z, Courtay-Cahen C, Fineberg E, Arendt M, Boerkamp K, Melin M, Koltookian M, Murphy S, Rutteman G, Lindblad-Toh K, Starkey M. Biasoli D, et al. Among authors: ricketts sl. PLoS Genet. 2019 Mar 22;15(3):e1007967. doi: 10.1371/journal.pgen.1007967. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30901340 Free PMC article.
An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease.
Mäkeläinen S, Gòdia M, Hellsand M, Viluma A, Hahn D, Makdoumi K, Zeiss CJ, Mellersh C, Ricketts SL, Narfström K, Hallböök F, Ekesten B, Andersson G, Bergström TF. Mäkeläinen S, et al. Among authors: ricketts sl. PLoS Genet. 2019 Mar 19;15(3):e1007873. doi: 10.1371/journal.pgen.1007873. eCollection 2019 Mar. PLoS Genet. 2019. PMID: 30889179 Free PMC article.
38 results