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A comprehensive mutation analysis of RP2 and RPGR in a North American cohort of families with X-linked retinitis pigmentosa.
Breuer DK, Yashar BM, Filippova E, Hiriyanna S, Lyons RH, Mears AJ, Asaye B, Acar C, Vervoort R, Wright AF, Musarella MA, Wheeler P, MacDonald I, Iannaccone A, Birch D, Hoffman DR, Fishman GA, Heckenlively JR, Jacobson SG, Sieving PA, Swaroop A. Breuer DK, et al. Among authors: macdonald i. Am J Hum Genet. 2002 Jun;70(6):1545-54. doi: 10.1086/340848. Epub 2002 Apr 30. Am J Hum Genet. 2002. PMID: 11992260 Free PMC article.
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, MacDonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N. Khanna H, et al. Among authors: macdonald i. Nat Genet. 2009 Jun;41(6):739-45. doi: 10.1038/ng.366. Epub 2009 May 10. Nat Genet. 2009. PMID: 19430481 Free PMC article.
Genetic variants in PIKFYVE: A review of ocular phenotypes.
Misaghi E, Kannu P, MacDonald IM, Benson MD. Misaghi E, et al. Among authors: macdonald im. Exp Eye Res. 2024 Dec 16;251:110211. doi: 10.1016/j.exer.2024.110211. Online ahead of print. Exp Eye Res. 2024. PMID: 39694407 Free article. Review.
Practices of assessment of pain, sedation, iatrogenic withdrawal syndrome, and delirium in European paediatric intensive care units: A secondary analysis of the European Prevalence of Acute Rehab for Kids in the paediatric intensive care unit study.
Alvarado S, MacDonald I, Chanez V, Kudchadkar SR, Ista E, Ramelet AS. Alvarado S, et al. Among authors: macdonald i. Aust Crit Care. 2024 Sep 18:S1036-7314(24)00250-9. doi: 10.1016/j.aucc.2024.08.009. Online ahead of print. Aust Crit Care. 2024. PMID: 39299814 Free article.
1,398 results