Mihelec M - Search Results

1

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. 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.

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: mihelec m. 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

Novel SOX2 partner-factor domain mutation in a four-generation family.

Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, Chen Y, Donald J, Tam PP, Grigg JR, Flaherty M, Gole GA, Jamieson RV. Mihelec M, et al. Eur J Hum Genet. 2009 Nov;17(11):1417-22. doi: 10.1038/ejhg.2009.79. Epub 2009 May 27. Eur J Hum Genet. 2009. PMID: 19471311 Free PMC article.

4

Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation.

Jamieson RV, Farrar N, Stewart K, Perveen R, Mihelec M, Carette M, Grigg JR, McAvoy JW, Lovicu FJ, Tam PP, Scambler P, Lloyd IC, Donnai D, Black GC. Jamieson RV, et al. Among authors: mihelec m. Hum Mutat. 2007 Oct;28(10):968-77. doi: 10.1002/humu.20545. Hum Mutat. 2007. PMID: 17492639

5

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: mihelec m. 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

6

Twist2: role in corneal stromal keratocyte proliferation and corneal thickness.

Weaving L, Mihelec M, Storen R, Sosic D, Grigg JR, Tam PP, Jamieson RV. Weaving L, et al. Among authors: mihelec m. Invest Ophthalmol Vis Sci. 2010 Nov;51(11):5561-70. doi: 10.1167/iovs.09-5123. Epub 2010 Jun 23. Invest Ophthalmol Vis Sci. 2010. PMID: 20574024

7

Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency.

Mihelec M, Pearson RA, Robbie SJ, Buch PK, Azam SA, Bainbridge JW, Smith AJ, Ali RR. Mihelec M, et al. Hum Gene Ther. 2011 Oct;22(10):1179-90. doi: 10.1089/hum.2011.069. Epub 2011 Aug 10. Hum Gene Ther. 2011. PMID: 21671801 Free PMC article.

8

Dominant cone-rod dystrophy: a mouse model generated by gene targeting of the GCAP1/Guca1a gene.

Buch PK, Mihelec M, Cottrill P, Wilkie SE, Pearson RA, Duran Y, West EL, Michaelides M, Ali RR, Hunt DM. Buch PK, et al. Among authors: mihelec m. PLoS One. 2011 Mar 28;6(3):e18089. doi: 10.1371/journal.pone.0018089. PLoS One. 2011. PMID: 21464903 Free PMC article.

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