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Three novel mutations in KIF21A highlight the importance of the third coiled-coil stalk domain in the etiology of CFEOM1.
Chan WM, Andrews C, Dragan L, Fredrick D, Armstrong L, Lyons C, Geraghty MT, Hunter DG, Yazdani A, Traboulsi EI, Pott JW, Gutowski NJ, Ellard S, Young E, Hanisch F, Koc F, Schnall B, Engle EC. Chan WM, et al. Among authors: hunter dg. BMC Genet. 2007 May 18;8:26. doi: 10.1186/1471-2156-8-26. BMC Genet. 2007. PMID: 17511870 Free PMC article.
Congenital fibrosis of the extraocular muscles.
Heidary G, Engle EC, Hunter DG. Heidary G, et al. Among authors: hunter dg. Semin Ophthalmol. 2008 Jan-Feb;23(1):3-8. doi: 10.1080/08820530701745181. Semin Ophthalmol. 2008. PMID: 18214786 Review.
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC. Tischfield MA, et al. Among authors: hunter dg. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.
Expansion of the CHN1 strabismus phenotype.
Miyake N, Demer JL, Shaaban S, Andrews C, Chan WM, Christiansen SP, Hunter DG, Engle EC. Miyake N, et al. Among authors: hunter dg. Invest Ophthalmol Vis Sci. 2011 Aug 11;52(9):6321-8. doi: 10.1167/iovs.11-7950. Invest Ophthalmol Vis Sci. 2011. PMID: 21715346 Free PMC article.
211 results