Macdonald IM - Search Results

1

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.

2

Mutational analysis of patients with the diagnosis of choroideremia.

McTaggart KE, Tran M, Mah DY, Lai SW, Nesslinger NJ, MacDonald IM. McTaggart KE, et al. Among authors: macdonald im. Hum Mutat. 2002 Sep;20(3):189-96. doi: 10.1002/humu.10114. Hum Mutat. 2002. PMID: 12203991

3

Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM. Jacobson SG, et al. Among authors: macdonald im. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):4113-20. doi: 10.1167/iovs.06-0424. Invest Ophthalmol Vis Sci. 2006. PMID: 16936131

4

Clinical and functional findings in choroideremia due to complete deletion of the CHM gene.

Mura M, Sereda C, Jablonski MM, MacDonald IM, Iannaccone A. Mura M, et al. Among authors: macdonald im. Arch Ophthalmol. 2007 Aug;125(8):1107-13. doi: 10.1001/archopht.125.8.1107. Arch Ophthalmol. 2007. PMID: 17698759

5

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.

6

Choroideremia: new findings from ocular pathology and review of recent literature.

MacDonald IM, Russell L, Chan CC. MacDonald IM, et al. Surv Ophthalmol. 2009 May-Jun;54(3):401-7. doi: 10.1016/j.survophthal.2009.02.008. Surv Ophthalmol. 2009. PMID: 19422966 Free PMC article. Review.

7

Silencing of the CHM gene alters phagocytic and secretory pathways in the retinal pigment epithelium.

Gordiyenko NV, Fariss RN, Zhi C, MacDonald IM. Gordiyenko NV, et al. Among authors: macdonald im. Invest Ophthalmol Vis Sci. 2010 Feb;51(2):1143-50. doi: 10.1167/iovs.09-4117. Epub 2009 Sep 9. Invest Ophthalmol Vis Sci. 2010. PMID: 19741243 Free PMC article.

8

Loss-of-function mutations in Rab escort protein 1 (REP-1) affect intracellular transport in fibroblasts and monocytes of choroideremia patients.

Strunnikova NV, Barb J, Sergeev YV, Thiagarajasubramanian A, Silvin C, Munson PJ, Macdonald IM. Strunnikova NV, et al. Among authors: macdonald im. PLoS One. 2009 Dec 22;4(12):e8402. doi: 10.1371/journal.pone.0008402. PLoS One. 2009. PMID: 20027300 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

High-throughput retina-array for screening 93 genes involved in inherited retinal dystrophy.

Song J, Smaoui N, Ayyagari R, Stiles D, Benhamed S, MacDonald IM, Daiger SP, Tumminia SJ, Hejtmancik F, Wang X. Song J, et al. Among authors: macdonald im. Invest Ophthalmol Vis Sci. 2011 Nov 25;52(12):9053-60. doi: 10.1167/iovs.11-7978. Invest Ophthalmol Vis Sci. 2011. PMID: 22025579 Free PMC article.

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