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382 results

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Page 1
Loss of Gap Junction Delta-2 (GJD2) gene orthologs leads to refractive error in zebrafish.
Quint WH, Tadema KCD, de Vrieze E, Lukowicz RM, Broekman S, Winkelman BHJ, Hoevenaars M, de Gruiter HM, van Wijk E, Schaeffel F, Meester-Smoor M, Miller AC, Willemsen R, Klaver CCW, Iglesias AI. Quint WH, et al. Among authors: klaver ccw. Commun Biol. 2021 Jun 3;4(1):676. doi: 10.1038/s42003-021-02185-z. Commun Biol. 2021. PMID: 34083742 Free PMC article.
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. Iglesias AI, et al. Hum Mol Genet. 2014 Mar 1;23(5):1320-32. doi: 10.1093/hmg/ddt522. Epub 2013 Oct 22. Hum Mol Genet. 2014. PMID: 24150847
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy.
Roosing S, Lamers IJ, de Vrieze E, van den Born LI, Lambertus S, Arts HH; POC1B Study Group; Peters TA, Hoyng CB, Kremer H, Hetterschijt L, Letteboer SJ, van Wijk E, Roepman R, den Hollander AI, Cremers FP. Roosing S, et al. Am J Hum Genet. 2014 Aug 7;95(2):131-42. doi: 10.1016/j.ajhg.2014.06.012. Epub 2014 Jul 10. Am J Hum Genet. 2014. PMID: 25018096 Free PMC article.
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Springelkamp H, Höhn R, Mishra A, Hysi PG, Khor CC, Loomis SJ, Bailey JN, Gibson J, Thorleifsson G, Janssen SF, Luo X, Ramdas WD, Vithana E, Nongpiur ME, Montgomery GW, Xu L, Mountain JE, Gharahkhani P, Lu Y, Amin N, Karssen LC, Sim KS, van Leeuwen EM, Iglesias AI, Verhoeven VJ, Hauser MA, Loon SC, Despriet DD, Nag A, Venturini C, Sanfilippo PG, Schillert A, Kang JH, Landers J, Jonasson F, Cree AJ, van Koolwijk LM, Rivadeneira F, Souzeau E, Jonsson V, Menon G; Blue Mountains Eye Study—GWAS group; Weinreb RN, de Jong PT, Oostra BA, Uitterlinden AG, Hofman A, Ennis S, Thorsteinsdottir U, Burdon KP; NEIGHBORHOOD Consortium; Wellcome Trust Case Control Consortium 2 (WTCCC2); Spector TD, Mirshahi A, Saw SM, Vingerling JR, Teo YY, Haines JL, Wolfs RC, Lemij HG, Tai ES, Jansonius NM, Jonas JB, Cheng CY, Aung T, Viswanathan AC, Klaver CC, Craig JE, Macgregor S, Mackey DA, Lotery AJ, Stefansson K, Bergen AA, Young TL, Wiggs JL, Pfeiffer N, Wong TY, Pasquale LR, Hewitt AW, van Duijn CM, Hammond CJ. Springelkamp H, et al. Nat Commun. 2014 Sep 22;5:4883. doi: 10.1038/ncomms5883. Nat Commun. 2014. PMID: 25241763 Free PMC article.
WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness.
Cuellar-Partida G, Springelkamp H, Lucas SE, Yazar S, Hewitt AW, Iglesias AI, Montgomery GW, Martin NG, Pennell CE, van Leeuwen EM, Verhoeven VJ, Hofman A, Uitterlinden AG, Ramdas WD, Wolfs RC, Vingerling JR, Brown MA, Mills RA, Craig JE, Klaver CC, van Duijn CM, Burdon KP, MacGregor S, Mackey DA. Cuellar-Partida G, et al. Hum Mol Genet. 2015 Sep 1;24(17):5060-8. doi: 10.1093/hmg/ddv211. Epub 2015 Jun 5. Hum Mol Genet. 2015. PMID: 26049155 Free article.
Genes, pathways, and animal models in primary open-angle glaucoma.
Iglesias AI, Springelkamp H, Ramdas WD, Klaver CC, Willemsen R, van Duijn CM. Iglesias AI, et al. Eye (Lond). 2015 Oct;29(10):1285-98. doi: 10.1038/eye.2015.160. Epub 2015 Aug 28. Eye (Lond). 2015. PMID: 26315706 Free PMC article. Review.
Visual Prognosis in USH2A-Associated Retinitis Pigmentosa Is Worse for Patients with Usher Syndrome Type IIa Than for Those with Nonsyndromic Retinitis Pigmentosa.
Pierrache LH, Hartel BP, van Wijk E, Meester-Smoor MA, Cremers FP, de Baere E, de Zaeytijd J, van Schooneveld MJ, Cremers CW, Dagnelie G, Hoyng CB, Bergen AA, Leroy BP, Pennings RJ, van den Born LI, Klaver CC. Pierrache LH, et al. Ophthalmology. 2016 May;123(5):1151-60. doi: 10.1016/j.ophtha.2016.01.021. Epub 2016 Feb 27. Ophthalmology. 2016. PMID: 26927203
Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.
Fan Q, Verhoeven VJ, Wojciechowski R, Barathi VA, Hysi PG, Guggenheim JA, Höhn R, Vitart V, Khawaja AP, Yamashiro K, Hosseini SM, Lehtimäki T, Lu Y, Haller T, Xie J, Delcourt C, Pirastu M, Wedenoja J, Gharahkhani P, Venturini C, Miyake M, Hewitt AW, Guo X, Mazur J, Huffman JE, Williams KM, Polasek O, Campbell H, Rudan I, Vatavuk Z, Wilson JF, Joshi PK, McMahon G, St Pourcain B, Evans DM, Simpson CL, Schwantes-An TH, Igo RP, Mirshahi A, Cougnard-Gregoire A, Bellenguez C, Blettner M, Raitakari O, Kähönen M, Seppala I, Zeller T, Meitinger T; Consortium for Refractive Error and Myopia; Ried JS, Gieger C, Portas L, van Leeuwen EM, Amin N, Uitterlinden AG, Rivadeneira F, Hofman A, Vingerling JR, Wang YX, Wang X, Tai-Hui Boh E, Ikram MK, Sabanayagam C, Gupta P, Tan V, Zhou L, Ho CE, Lim W, Beuerman RW, Siantar R, Tai ES, Vithana E, Mihailov E, Khor CC, Hayward C, Luben RN, Foster PJ, Klein BE, Klein R, Wong HS, Mitchell P, Metspalu A, Aung T, Young TL, He M, Pärssinen O, van Duijn CM, Jin Wang J, Williams C, Jonas JB, Teo YY, Mackey DA, Oexle K, Yoshimura N, Paterson AD, Pfeiffer N, Wong TY, Baird PN, Stambolian D, Wilson JE, Cheng CY, Hammond CJ, Klaver CC, Saw SM, Rahi JS, Korobelnik J… See abstract for full author list ➔ Fan Q, et al. Nat Commun. 2016 Mar 29;7:11008. doi: 10.1038/ncomms11008. Nat Commun. 2016. PMID: 27020472 Free PMC article.
382 results