Koenekoop R - Search Results

1

A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber Congenital Amaurosis.

Silva E, Dharmaraj S, Li YY, Pina AL, Carter RC, Loyer M, Traboulsi E, Theodossiadis G, Koenekoop R, Sundin O, Maumenee I. Silva E, et al. Among authors: koenekoop r. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

2

Correction: Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.

Tremblay N, Baril M, Chatel-Chaix L, Es-Saad S, Park AY, Koenekoop RK, Lamarre D. Tremblay N, et al. PLoS Pathog. 2017 Jan 24;13(1):e1006174. doi: 10.1371/journal.ppat.1006174. eCollection 2017 Jan. PLoS Pathog. 2017. PMID: 28118396 Free PMC article.

3

Spliceosome SNRNP200 Promotes Viral RNA Sensing and IRF3 Activation of Antiviral Response.

Tremblay N, Baril M, Chatel-Chaix L, Es-Saad S, Park AY, Koenekoop RK, Lamarre D. Tremblay N, et al. PLoS Pathog. 2016 Jul 25;12(7):e1005772. doi: 10.1371/journal.ppat.1005772. eCollection 2016 Jul. PLoS Pathog. 2016. PMID: 27454487 Free PMC article.

4

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population.

Ebermann I, Lopez I, Bitner-Glindzicz M, Brown C, Koenekoop RK, Bolz HJ. Ebermann I, et al. Genome Biol. 2007;8(4):R47. doi: 10.1186/gb-2007-8-4-r47. Genome Biol. 2007. PMID: 17407589 Free PMC article.

5

Probing mechanisms and improving management of glaucoma following Boston keratoprosthesis surgery.

Geoffrion D, Koenekoop RK, Harissi-Dagher M. Geoffrion D, et al. Among authors: koenekoop rk. Acta Ophthalmol. 2023 Mar;101(2):242-243. doi: 10.1111/aos.15297. Acta Ophthalmol. 2023. PMID: 36794627 Free article.

6

Idiopathic central retinal artery occlusion in a 6-year-old.

Heckler LV, Lederer DE, Alwadani F, Koenekoop RK. Heckler LV, et al. Can J Ophthalmol. 2008 Jun;43(3):375-6. doi: 10.3129/i08-046. Can J Ophthalmol. 2008. PMID: 18443618 No abstract available.

7

Ocular findings in a family with Sotos syndrome (cerebral gigantism).

Koenekoop RK, Rosenbaum KN, Traboulsi EI. Koenekoop RK, et al. Am J Ophthalmol. 1995 May;119(5):657-8. doi: 10.1016/s0002-9394(14)70232-6. Am J Ophthalmol. 1995. PMID: 7733196 Free article.

8

A gene for autosomal dominant congenital nystagmus localizes to 6p12.

Kerrison JB, Arnould VJ, Barmada MM, Koenekoop RK, Schmeckpeper BJ, Maumenee IH. Kerrison JB, et al. Among authors: koenekoop rk. Genomics. 1996 May 1;33(3):523-6. doi: 10.1006/geno.1996.0229. Genomics. 1996. PMID: 8661013 Free article.

9

Clinical features of autosomal dominant congenital nystagmus linked to chromosome 6p12.

Kerrison JB, Koenekoop RK, Arnould VJ, Zee D, Maumenee IH. Kerrison JB, et al. Among authors: koenekoop rk. Am J Ophthalmol. 1998 Jan;125(1):64-70. doi: 10.1016/s0002-9394(99)80236-0. Am J Ophthalmol. 1998. PMID: 9437315 Free article.

10

Four polymorphic variations in the PEDF gene identified during the mutation screening of patients with Leber congenital amaurosis.

Koenekoop R, Pina AL, Loyer M, Davidson J, Robitaille J, Maumenee I, Tombran-Tink J. Koenekoop R, et al. Mol Vis. 1999 Jul 2;5:10. Mol Vis. 1999. PMID: 10398730 Free article.

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