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Items: 1 to 20 of 84

1.

A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology.

Gasten AC, Ramdas WD, Broer L, van Koolwijk LM, Ikram MK, de Jong PT, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F, Uitterlinden AG, Oostra BA, Lemij HG, Klaver CC, Jansonius NM, Vingerling JR, van Duijn CM.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1485-91. doi: 10.1167/iovs.11-7384.

PMID:
22266513
2.

Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US Caucasian population.

Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL.

Invest Ophthalmol Vis Sci. 2011 Mar 28;52(3):1788-92. doi: 10.1167/iovs.10-6339.

3.

A genome-wide association study of optic disc parameters.

Ramdas WD, van Koolwijk LM, Ikram MK, Jansonius NM, de Jong PT, Bergen AA, Isaacs A, Amin N, Aulchenko YS, Wolfs RC, Hofman A, Rivadeneira F, Oostra BA, Uitterlinden AG, Hysi P, Hammond CJ, Lemij HG, Vingerling JR, Klaver CC, van Duijn CM.

PLoS Genet. 2010 Jun 10;6(6):e1000978. doi: 10.1371/journal.pgen.1000978.

4.

Common genetic variants associated with open-angle glaucoma.

Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, Janssen SF, Jacoline TB, Amin N, Rivadeneira F, Wolfs RC, Walters GB, Jonasson F, Weisschuh N, Mardin CY, Gibson J, Zegers RH, Hofman A, de Jong PT, Uitterlinden AG, Oostra BA, Thorsteinsdottir U, Gramer E, Welgen-Lüssen UC, Kirwan JF, Bergen AA, Reis A, Stefansson K, Lotery AJ, Vingerling JR, Jansonius NM, Klaver CC, van Duijn CM.

Hum Mol Genet. 2011 Jun 15;20(12):2464-71. doi: 10.1093/hmg/ddr120. Epub 2011 Mar 22.

PMID:
21427129
5.

Association between genetic variants associated with vertical cup-to-disc ratio and phenotypic features of primary open-angle glaucoma.

Mabuchi F, Sakurada Y, Kashiwagi K, Yamagata Z, Iijima H, Tsukahara S.

Ophthalmology. 2012 Sep;119(9):1819-25. doi: 10.1016/j.ophtha.2012.02.044. Epub 2012 May 12.

PMID:
22584021
6.

Autosomal-dominant nystagmus, foveal hypoplasia and presenile cataract associated with a novel PAX6 mutation.

Thomas S, Thomas MG, Andrews C, Chan WM, Proudlock FA, McLean RJ, Pradeep A, Engle EC, Gottlob I.

Eur J Hum Genet. 2014 Mar;22(3):344-9. doi: 10.1038/ejhg.2013.162. Epub 2013 Aug 14.

8.

Exome sequencing and functional analyses suggest that SIX6 is a gene involved in an altered proliferation-differentiation balance early in life and optic nerve degeneration at old age.

Iglesias AI, Springelkamp H, van der Linde H, Severijnen LA, Amin N, Oostra B, Kockx CE, van den Hout MC, van Ijcken WF, Hofman A, Uitterlinden AG, Verdijk RM, Klaver CC, Willemsen R, van Duijn CM.

Hum Mol Genet. 2014 Mar 1;23(5):1320-32. doi: 10.1093/hmg/ddt522. Epub 2013 Oct 22.

PMID:
24150847
9.

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

Dimasi DP, Burdon KP, Hewitt AW, Savarirayan R, Healey PR, Mitchell P, Mackey DA, Craig JE.

Mol Vis. 2010 Mar 31;16:562-9.

10.

PAX6 haplotypes are associated with high myopia in Han chinese.

Jiang B, Yap MK, Leung KH, Ng PW, Fung WY, Lam WW, Gu YS, Yip SP.

PLoS One. 2011 May 12;6(5):e19587. doi: 10.1371/journal.pone.0019587.

11.

Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

Dimasi DP, Burdon KP, Hewitt AW, Fitzgerald J, Wang JJ, Healey PR, Mitchell P, Mackey DA, Craig JE.

Am J Ophthalmol. 2012 Nov;154(5):833-842.e2. doi: 10.1016/j.ajo.2012.04.023. Epub 2012 Jul 27.

PMID:
22840486
12.
13.

PAX6 gene associated with high myopia: a meta-analysis.

Tang SM, Rong SS, Young AL, Tam PO, Pang CP, Chen LJ.

Optom Vis Sci. 2014 Apr;91(4):419-29. doi: 10.1097/OPX.0000000000000224. Review.

PMID:
24637479
14.

A Genome-Wide Association Study of Vertical Cup-Disc Ratio in a Latino Population.

Nannini DR, Torres M, Chen YI, Taylor KD, Rotter JI, Varma R, Gao X.

Invest Ophthalmol Vis Sci. 2017 Jan 1;58(1):87-95. doi: 10.1167/iovs.16-19891.

15.

Genome-wide association studies in Asians confirm the involvement of ATOH7 and TGFBR3, and further identify CARD10 as a novel locus influencing optic disc area.

Khor CC, Ramdas WD, Vithana EN, Cornes BK, Sim X, Tay WT, Saw SM, Zheng Y, Lavanya R, Wu R, Wang JJ, Mitchell P, Uitterlinden AG, Rivadeneira F, Teo YY, Chia KS, Seielstad M, Hibberd M, Vingerling JR, Klaver CC, Jansonius NM, Tai ES, Wong TY, van Duijn CM, Aung T.

Hum Mol Genet. 2011 May 1;20(9):1864-72. doi: 10.1093/hmg/ddr060. Epub 2011 Feb 9.

PMID:
21307088
16.

Association of paired box 6 with high myopia in Japanese.

Miyake M, Yamashiro K, Nakanishi H, Nakata I, Akagi-Kurashige Y, Tsujikawa A, Moriyama M, Ohno-Matsui K, Mochizuki M, Yamada R, Matsuda F, Yoshimura N.

Mol Vis. 2012;18:2726-35. Epub 2012 Nov 17.

17.

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

Wawrocka A, Sikora A, Kuszel L, Krawczynski MR.

J Appl Genet. 2013 Aug;54(3):345-51. doi: 10.1007/s13353-013-0154-0. Epub 2013 Jun 13.

18.

PAX6 3' deletion in a family with aniridia.

Wawrocka A, Budny B, Debicki S, Jamsheer A, Sowinska A, Krawczynski MR.

Ophthalmic Genet. 2012 Mar;33(1):44-8. doi: 10.3109/13816810.2011.615076. Epub 2011 Oct 10.

PMID:
21985185
19.

Absence of mutations in Pax6 gene in three cases of morning glory syndrome associated with isolated growth hormone deficiency.

Guerra-Junior G, Spinola-Castro AM, Siviero-Miachon AA, Nogueira RG, Lemos-Marini SH, D'Souza-Li LF, Silva PC, França ES, Soardi FC, Mello MP.

Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1221-7.

20.

Candidate gene and locus analysis of myopia.

Mutti DO, Cooper ME, O'Brien S, Jones LA, Marazita ML, Murray JC, Zadnik K.

Mol Vis. 2007 Jun 28;13:1012-9.

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