Boursnell M - Search Results

1

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: boursnell m. 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

2

Genome-wide association study in RPGRIP1(-/-) dogs identifies a modifier locus that determines the onset of retinal degeneration.

Miyadera K, Kato K, Boursnell M, Mellersh CS, Sargan DR. Miyadera K, et al. Among authors: boursnell m. Mamm Genome. 2012 Feb;23(1-2):212-23. doi: 10.1007/s00335-011-9384-9. Epub 2011 Dec 23. Mamm Genome. 2012. PMID: 22193413 Free PMC article.

3

Genome sequencing reveals a splice donor site mutation in the SNX14 gene associated with a novel cerebellar cortical degeneration in the Hungarian Vizsla dog breed.

Fenn J, Boursnell M, Hitti RJ, Jenkins CA, Terry RL, Priestnall SL, Kenny PJ, Mellersh CS, Forman OP. Fenn J, et al. Among authors: boursnell m. BMC Genet. 2016 Aug 26;17(1):123. doi: 10.1186/s12863-016-0433-y. BMC Genet. 2016. PMID: 27566131 Free PMC article.

4

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.

Forman OP, Hitti RJ, Boursnell M, Miyadera K, Sargan D, Mellersh C. Forman OP, et al. Among authors: boursnell m. Mamm Genome. 2016 Jun;27(5-6):237-45. doi: 10.1007/s00335-016-9627-x. Epub 2016 Mar 26. Mamm Genome. 2016. PMID: 27017229

5

A LINE-1 insertion situated in the promoter of IMPG2 is associated with autosomal recessive progressive retinal atrophy in Lhasa Apso dogs.

Hitti-Malin RJ, Burmeister LM, Ricketts SL, Lewis TW, Pettitt L, Boursnell M, Schofield EC, Sargan D, Mellersh CS. Hitti-Malin RJ, et al. Among authors: boursnell m. BMC Genet. 2020 Sep 7;21(1):100. doi: 10.1186/s12863-020-00911-w. BMC Genet. 2020. PMID: 32894063 Free PMC article.

6

Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis.

Mellersh CS, Boursnell ME, Pettitt L, Ryder EJ, Holmes NG, Grafham D, Forman OP, Sampson J, Barnett KC, Blanton S, Binns MM, Vaudin M. Mellersh CS, et al. Among authors: boursnell me. Genomics. 2006 Sep;88(3):293-301. doi: 10.1016/j.ygeno.2006.05.004. Epub 2006 Jun 27. Genomics. 2006. PMID: 16806805 Free article.

7

A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations.

Downs LM, Wallin-Håkansson B, Boursnell M, Marklund S, Hedhammar Å, Truvé K, Hübinette L, Lindblad-Toh K, Bergström T, Mellersh CS. Downs LM, et al. Among authors: boursnell m. PLoS One. 2011;6(6):e21452. doi: 10.1371/journal.pone.0021452. Epub 2011 Jun 27. PLoS One. 2011. PMID: 21738669 Free PMC article.

8

Defining the ABC of gene essentiality in streptococci.

Charbonneau ARL, Forman OP, Cain AK, Newland G, Robinson C, Boursnell M, Parkhill J, Leigh JA, Maskell DJ, Waller AS. Charbonneau ARL, et al. Among authors: boursnell m. BMC Genomics. 2017 May 31;18(1):426. doi: 10.1186/s12864-017-3794-3. BMC Genomics. 2017. PMID: 28569133 Free PMC article.

9

Characterization of the COMMD1 (MURR1) mutation causing copper toxicosis in Bedlington terriers.

Forman OP, Boursnell ME, Dunmore BJ, Stendall N, van den Sluis B, Fretwell N, Jones C, Wijmenga C, Rothuizen J, van Oost BA, Holmes NG, Binns MM, Jones P. Forman OP, et al. Among authors: boursnell me. Anim Genet. 2005 Dec;36(6):497-501. doi: 10.1111/j.1365-2052.2005.01360.x. Anim Genet. 2005. PMID: 16293123

10

Single linkage group per chromosome genetic linkage map for the horse, based on two three-generation, full-sibling, crossbred horse reference families.

Swinburne JE, Boursnell M, Hill G, Pettitt L, Allen T, Chowdhary B, Hasegawa T, Kurosawa M, Leeb T, Mashima S, Mickelson JR, Raudsepp T, Tozaki T, Binns M. Swinburne JE, et al. Among authors: boursnell m. Genomics. 2006 Jan;87(1):1-29. doi: 10.1016/j.ygeno.2005.09.001. Epub 2005 Nov 28. Genomics. 2006. PMID: 16314071 Free article.

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