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Page 1
Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity.
Saksens NT, Krebs MP, Schoenmaker-Koller FE, Hicks W, Yu M, Shi L, Rowe L, Collin GB, Charette JR, Letteboer SJ, Neveling K, van Moorsel TW, Abu-Ltaif S, De Baere E, Walraedt S, Banfi S, Simonelli F, Cremers FP, Boon CJ, Roepman R, Leroy BP, Peachey NS, Hoyng CB, Nishina PM, den Hollander AI. Saksens NT, et al. Nat Genet. 2016 Feb;48(2):144-51. doi: 10.1038/ng.3474. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691986 Free PMC article.
Dominant cystoid macular dystrophy.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Ophthalmology. 2015 Jan;122(1):180-91. doi: 10.1016/j.ophtha.2014.07.053. Epub 2014 Sep 26. Ophthalmology. 2015. PMID: 25267528
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.
Fritsche LG, Igl W, Bailey JN, Grassmann F, Sengupta S, Bragg-Gresham JL, Burdon KP, Hebbring SJ, Wen C, Gorski M, Kim IK, Cho D, Zack D, Souied E, Scholl HP, Bala E, Lee KE, Hunter DJ, Sardell RJ, Mitchell P, Merriam JE, Cipriani V, Hoffman JD, Schick T, Lechanteur YT, Guymer RH, Johnson MP, Jiang Y, Stanton CM, Buitendijk GH, Zhan X, Kwong AM, Boleda A, Brooks M, Gieser L, Ratnapriya R, Branham KE, Foerster JR, Heckenlively JR, Othman MI, Vote BJ, Liang HH, Souzeau E, McAllister IL, Isaacs T, Hall J, Lake S, Mackey DA, Constable IJ, Craig JE, Kitchner TE, Yang Z, Su Z, Luo H, Chen D, Ouyang H, Flagg K, Lin D, Mao G, Ferreyra H, Stark K, von Strachwitz CN, Wolf A, Brandl C, Rudolph G, Olden M, Morrison MA, Morgan DJ, Schu M, Ahn J, Silvestri G, Tsironi EE, Park KH, Farrer LA, Orlin A, Brucker A, Li M, Curcio CA, Mohand-Saïd S, Sahel JA, Audo I, Benchaboune M, Cree AJ, Rennie CA, Goverdhan SV, Grunin M, Hagbi-Levi S, Campochiaro P, Katsanis N, Holz FG, Blond F, Blanché H, Deleuze JF, Igo RP Jr, Truitt B, Peachey NS, Meuer SM, Myers CE, Moore EL, Klein R, Hauser MA, Postel EA, Courtenay MD, Schwartz SG, Kovach JL, Scott WK, Liew G, Tan AG, Gopinath B, Merriam JC, Smith RT, Khan JC,… See abstract for full author list ➔ Fritsche LG, et al. Among authors: saksens nt. Nat Genet. 2016 Feb;48(2):134-43. doi: 10.1038/ng.3448. Epub 2015 Dec 21. Nat Genet. 2016. PMID: 26691988 Free PMC article.
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
Duvvari MR, van de Ven JP, Geerlings MJ, Saksens NT, Bakker B, Henkes A, Neveling K, del Rosario M, Westra D, van den Heuvel LP, Schick T, Fauser S, Boon CJ, Hoyng CB, de Jong EK, den Hollander AI. Duvvari MR, et al. Among authors: saksens nt. PLoS One. 2016 Mar 23;11(3):e0152047. doi: 10.1371/journal.pone.0152047. eCollection 2016. PLoS One. 2016. PMID: 27007659 Free PMC article.
Reply: To PMID 25267528.
Saksens NT, van Huet RA, van Lith-Verhoeven JJ, den Hollander AI, Hoyng CB, Boon CJ. Saksens NT, et al. Ophthalmology. 2015 Oct;122(10):e60. doi: 10.1016/j.ophtha.2015.04.003. Ophthalmology. 2015. PMID: 26398059 No abstract available.
Macular dystrophies mimicking age-related macular degeneration.
Saksens NT, Fleckenstein M, Schmitz-Valckenberg S, Holz FG, den Hollander AI, Keunen JE, Boon CJ, Hoyng CB. Saksens NT, et al. Prog Retin Eye Res. 2014 Mar;39:23-57. doi: 10.1016/j.preteyeres.2013.11.001. Epub 2013 Nov 28. Prog Retin Eye Res. 2014. PMID: 24291520 Review.
22 results