MacDonald IM - Search Results

1

A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy.

Zhang K, Kniazeva M, Han M, Li W, Yu Z, Yang Z, Li Y, Metzker ML, Allikmets R, Zack DJ, Kakuk LE, Lagali PS, Wong PW, MacDonald IM, Sieving PA, Figueroa DJ, Austin CP, Gould RJ, Ayyagari R, Petrukhin K. Zhang K, et al. Among authors: macdonald im. Nat Genet. 2001 Jan;27(1):89-93. doi: 10.1038/83817. Nat Genet. 2001. PMID: 11138005

2

Linkage relationships of X-linked choroideremia to DXYS1 and DXS3.

MacDonald IM, Sandre RM, Wong P, Hunter AG, Tenniswood MP. MacDonald IM, et al. Hum Genet. 1987 Nov;77(3):233-5. doi: 10.1007/BF00284475. Hum Genet. 1987. PMID: 2890569

3

Recent advances in the genetics of macular dystrophies.

Mah DY, Wong PW, Edwards A, MacDonald IM. Mah DY, et al. Among authors: macdonald im. Can J Ophthalmol. 1998 Apr;33(3):135-43. Can J Ophthalmol. 1998. PMID: 9606569 Review. No abstract available.

4

Autosomal dominant Stargardt-like macular dystrophy segregating in a large Canadian family.

Lagali PS, MacDonald IM, Griesinger IB, Chambers ML, Ayyagari R, Wong PW. Lagali PS, et al. Among authors: macdonald im. Can J Ophthalmol. 2000 Oct;35(6):315-24. doi: 10.1016/s0008-4182(00)80059-9. Can J Ophthalmol. 2000. PMID: 11091913

5

Autosomal dominant macular dystrophy in a large Canadian family.

Donoso LA, Hageman G, Frost A, Sheffield V, Beck J, Hébert M, MacDonald IM. Donoso LA, et al. Among authors: macdonald im. Can J Ophthalmol. 2003 Feb;38(1):33-40. doi: 10.1016/s0008-4182(03)80006-6. Can J Ophthalmol. 2003. PMID: 12608515

6

Preventing blindness in retinal disease: ciliary neurotrophic factor intraocular implants.

MacDonald IM, Sauvé Y, Sieving PA. MacDonald IM, et al. Can J Ophthalmol. 2007 Jun;42(3):399-402. Can J Ophthalmol. 2007. PMID: 17508034 Review.

7

Eyeing a new network.

MacDonald IM, Brooks BP, Sieving PA. MacDonald IM, et al. Science. 2007 Nov 16;318(5853):1068. doi: 10.1126/science.318.5853.1068. Science. 2007. PMID: 18006726 No abstract available.

8

Mutations in ASCC3L1 on 2q11.2 are associated with autosomal dominant retinitis pigmentosa in a Chinese family.

Li N, Mei H, MacDonald IM, Jiao X, Hejtmancik JF. Li N, et al. Among authors: macdonald im. Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1036-43. doi: 10.1167/iovs.09-3725. Epub 2009 Aug 26. Invest Ophthalmol Vis Sci. 2010. PMID: 19710410 Free PMC article.

9

Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.

Sergeev YV, Caruso RC, Meltzer MR, Smaoui N, MacDonald IM, Sieving PA. Sergeev YV, et al. Among authors: macdonald im. Hum Mol Genet. 2010 Apr 1;19(7):1302-13. doi: 10.1093/hmg/ddq006. Epub 2010 Jan 8. Hum Mol Genet. 2010. PMID: 20061330 Free PMC article.

10

A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.

Riazuddin SA, Shahzadi A, Zeitz C, Ahmed ZM, Ayyagari R, Chavali VR, Ponferrada VG, Audo I, Michiels C, Lancelot ME, Nasir IA, Zafar AU, Khan SN, Husnain T, Jiao X, MacDonald IM, Riazuddin S, Sieving PA, Katsanis N, Hejtmancik JF. Riazuddin SA, et al. Among authors: macdonald im. Am J Hum Genet. 2010 Oct 8;87(4):523-31. doi: 10.1016/j.ajhg.2010.08.013. Epub 2010 Sep 16. Am J Hum Genet. 2010. PMID: 20850105 Free PMC article.

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