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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
An alternative method involves detection of the REP1 protein, as described in MacDonald et al. [1998]. A monoclonal antibody to REP1 does not detect truncated REP1 by immunoblot analysis, presumably due to instability and subsequent degradation of the truncated protein. .. …
An alternative method involves detection of the REP1 protein, as described in MacDonald et al. [1998]. A monoclonal antibody to REP1 …
Macular pigment and lutein supplementation in choroideremia.
Duncan JL, Aleman TS, Gardner LM, De Castro E, Marks DA, Emmons JM, Bieber ML, Steinberg JD, Bennett J, Stone EM, MacDonald IM, Cideciyan AV, Maguire MG, Jacobson SG. Duncan JL, et al. Among authors: macdonald im. Exp Eye Res. 2002 Mar;74(3):371-81. doi: 10.1006/exer.2001.1126. Exp Eye Res. 2002. PMID: 12014918 Clinical Trial.
Electrophysiologic and phenotypic features of an autosomal cone-rod dystrophy caused by a novel CRX mutation.
Lines MA, Hébert M, McTaggart KE, Flynn SJ, Tennant MT, MacDonald IM. Lines MA, et al. Among authors: macdonald im. Ophthalmology. 2002 Oct;109(10):1862-70. doi: 10.1016/s0161-6420(02)01187-9. Ophthalmology. 2002. PMID: 12359607
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. Among authors: macdonald im. 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
Phenotypic and molecular assessment of seven patients with 6p25 deletion syndrome: relevance to ocular dysgenesis and hearing impairment.
Gould DB, Jaafar MS, Addison MK, Munier F, Ritch R, MacDonald IM, Walter MA. Gould DB, et al. Among authors: macdonald im. BMC Med Genet. 2004 Jun 25;5:17. doi: 10.1186/1471-2350-5-17. BMC Med Genet. 2004. PMID: 15219231 Free PMC article. Review.
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.
Genetic aspects of age-related macular degeneration.
MacDonald IM. MacDonald IM. Can J Ophthalmol. 2005 Jun;40(3):288-92. doi: 10.1016/S0008-4182(05)80071-7. Can J Ophthalmol. 2005. PMID: 15947798 Review.
Stop mutations in exon 6 of the choroideremia gene, CHM, associated with preservation of the electroretinogram.
Francis PJ, Fishman GA, Trzupek KM, MacDonald IM, Stone EM, Weleber RG. Francis PJ, et al. Among authors: macdonald im. Arch Ophthalmol. 2005 Aug;123(8):1146-9. doi: 10.1001/archopht.123.8.1146. Arch Ophthalmol. 2005. PMID: 16087855 No abstract available.
Choroideremia: variability of clinical and electrophysiological characteristics and first report of a negative electroretinogram.
Renner AB, Kellner U, Cropp E, Preising MN, MacDonald IM, van den Hurk JA, Cremers FP, Foerster MH. Renner AB, et al. Among authors: macdonald im. Ophthalmology. 2006 Nov;113(11):2066.e1-10. doi: 10.1016/j.ophtha.2006.05.045. Epub 2006 Aug 28. Ophthalmology. 2006. PMID: 16935340
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
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