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Mutation analysis in Canadian families with choroideremia.
Nesslinger N, Mitchell G, Strasberg P, MacDonald IM. Nesslinger N, et al. Among authors: macdonald im. Ophthalmic Genet. 1996 Jun;17(2):47-52. doi: 10.3109/13816819609057870. Ophthalmic Genet. 1996. PMID: 8832720
A practical diagnostic test for choroideremia.
MacDonald IM, Mah DY, Ho YK, Lewis RA, Seabra MC. MacDonald IM, et al. Ophthalmology. 1998 Sep;105(9):1637-40. doi: 10.1016/S0161-6420(98)99031-5. Ophthalmology. 1998. PMID: 9754170
Clinical diagnoses that overlap with choroideremia.
Lee TK, McTaggart KE, Sieving PA, Heckenlively JR, Levin AV, Greenberg J, Weleber RG, Tong PY, Anhalt EF, Powell BR, MacDonald IM. Lee TK, et al. Can J Ophthalmol. 2003 Aug;38(5):364-72; quiz 372. doi: 10.1016/s0008-4182(03)80047-9. Can J Ophthalmol. 2003. PMID: 12956277
Choroideremia gene testing.
MacDonald IM, Sereda C, McTaggart K, Mah D. MacDonald IM, et al. Expert Rev Mol Diagn. 2004 Jul;4(4):478-84. doi: 10.1586/14737159.4.4.478. Expert Rev Mol Diagn. 2004. PMID: 15225095 Review.
Lines of Blaschko and choroideremia.
MacDonald IM, Sui R, Zein W. MacDonald IM, et al. Ophthalmology. 2009 May;116(5):1017-8; author reply 1018. doi: 10.1016/j.ophtha.2009.01.025. Ophthalmology. 2009. PMID: 19410966 No abstract available.
The functional effect of pathogenic mutations in Rab escort protein 1.
Sergeev YV, Smaoui N, Sui R, Stiles D, Gordiyenko N, Strunnikova N, Macdonald IM. Sergeev YV, et al. Among authors: macdonald im. Mutat Res. 2009 Jun 1;665(1-2):44-50. doi: 10.1016/j.mrfmmm.2009.02.015. Epub 2009 Mar 13. Mutat Res. 2009. PMID: 19427510 Free PMC article.
1,386 results