Jamieson RV - Search Results

1

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform.

Sharma S, Burdon KP, Dave A, Jamieson RV, Yaron Y, Billson F, Van Maldergem L, Lorenz B, Gécz J, Craig JE. Sharma S, et al. Among authors: jamieson rv. Mol Vis. 2008;14:1856-64. Epub 2008 Oct 20. Mol Vis. 2008. PMID: 18949062 Free PMC article.

2

Deletion at 14q22-23 indicates a contiguous gene syndrome comprising anophthalmia, pituitary hypoplasia, and ear anomalies.

Nolen LD, Amor D, Haywood A, St Heaps L, Willcock C, Mihelec M, Tam P, Billson F, Grigg J, Peters G, Jamieson RV. Nolen LD, et al. Among authors: jamieson rv. Am J Med Genet A. 2006 Aug 15;140(16):1711-8. doi: 10.1002/ajmg.a.31335. Am J Med Genet A. 2006. PMID: 16835935

3

Secondary glaucoma after paediatric cataract surgery.

Swamy BN, Billson F, Martin F, Donaldson C, Hing S, Jamieson R, Grigg J, Smith JE. Swamy BN, et al. Br J Ophthalmol. 2007 Dec;91(12):1627-30. doi: 10.1136/bjo.2007.117887. Epub 2007 May 2. Br J Ophthalmol. 2007. PMID: 17475699 Free PMC article.

4

Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.

Mihelec M, St Heaps L, Flaherty M, Billson F, Rudduck C, Tam PP, Grigg JR, Peters GB, Jamieson RV. Mihelec M, et al. Among authors: jamieson rv. Twin Res Hum Genet. 2008 Aug;11(4):412-21. doi: 10.1375/twin.11.4.412. Twin Res Hum Genet. 2008. PMID: 18637741 Review.

5

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.

Ma AS, Grigg JR, Ho G, Prokudin I, Farnsworth E, Holman K, Cheng A, Billson FA, Martin F, Fraser C, Mowat D, Smith J, Christodoulou J, Flaherty M, Bennetts B, Jamieson RV. Ma AS, et al. Among authors: jamieson rv. Hum Mutat. 2016 Apr;37(4):371-84. doi: 10.1002/humu.22948. Epub 2016 Jan 14. Hum Mutat. 2016. PMID: 26694549 Free PMC article.

6

Congenital iris ectropion as an indicator of variant aniridia.

Willcock C, Grigg J, Wilson M, Tam P, Billson F, Jamieson R. Willcock C, et al. Br J Ophthalmol. 2006 May;90(5):658-569. doi: 10.1136/bjo.2005.089698. Br J Ophthalmol. 2006. PMID: 16622108 Free PMC article. Review. No abstract available.

7

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: jamieson rv. Cell. 2010 Jan 8;140(1):74-87. doi: 10.1016/j.cell.2009.12.011. Cell. 2010. PMID: 20074521 Free PMC article.

8

PAX6 mutations may be associated with high myopia.

Hewitt AW, Kearns LS, Jamieson RV, Williamson KA, van Heyningen V, Mackey DA. Hewitt AW, et al. Among authors: jamieson rv. Ophthalmic Genet. 2007 Sep;28(3):179-82. doi: 10.1080/13816810701356676. Ophthalmic Genet. 2007. PMID: 17896318

9

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Greenlees R, Mihelec M, Yousoof S, Speidel D, Wu SK, Rinkwitz S, Prokudin I, Perveen R, Cheng A, Ma A, Nash B, Gillespie R, Loebel DA, Clayton-Smith J, Lloyd IC, Grigg JR, Tam PP, Yap AS, Becker TS, Black GC, Semina E, Jamieson RV. Greenlees R, et al. Among authors: jamieson rv. Hum Mol Genet. 2015 Oct 15;24(20):5789-804. doi: 10.1093/hmg/ddv298. Epub 2015 Jul 30. Hum Mol Genet. 2015. PMID: 26231217

10

Congenital fibrosis of the extraocular muscles type 1, distinctive conjunctival changes and intrapapillary disc colobomata.

Flaherty MP, Balachandran C, Jamieson R, Engle EC. Flaherty MP, et al. Ophthalmic Genet. 2009 Jun;30(2):91-5. doi: 10.1080/13816810802697473. Ophthalmic Genet. 2009. PMID: 19373680 Free PMC article.

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