Koenekoop RK - Search Results

1

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Wen S, Wang M, Qian X, Li Y, Wang K, Choi J, Pennesi ME, Yang P, Marra M, Koenekoop RK, Lopez I, Matynia A, Gorin M, Sui R, Yao F, Goetz K, Porto FBO, Chen R. Wen S, et al. Among authors: koenekoop rk. Hum Mol Genet. 2023 Jun 5;32(12):2005-2015. doi: 10.1093/hmg/ddad032. Hum Mol Genet. 2023. PMID: 36811936 Free PMC article.

2

The phenotype of Leber congenital amaurosis in patients with AIPL1 mutations.

Dharmaraj S, Leroy BP, Sohocki MM, Koenekoop RK, Perrault I, Anwar K, Khaliq S, Devi RS, Birch DG, De Pool E, Izquierdo N, Van Maldergem L, Ismail M, Payne AM, Holder GE, Bhattacharya SS, Bird AC, Kaplan J, Maumenee IH. Dharmaraj S, et al. Among authors: koenekoop rk. Arch Ophthalmol. 2004 Jul;122(7):1029-37. doi: 10.1001/archopht.122.7.1029. Arch Ophthalmol. 2004. PMID: 15249368

3

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

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

4

Evidence supportive of a functional discrimination between photopic oscillatory potentials as revealed with cone and rod mediated retinopathies.

Lachapelle P, Rousseau S, McKerral M, Benoit J, Polomeno RC, Koenekoop RK, Little JM. Lachapelle P, et al. Among authors: koenekoop rk. Doc Ophthalmol. 1998;95(1):35-54. doi: 10.1023/a:1001784614333. Doc Ophthalmol. 1998. PMID: 10189180

5

The photopic ERG luminance-response function (photopic hill): method of analysis and clinical application.

Rufiange M, Dassa J, Dembinska O, Koenekoop RK, Little JM, Polomeno RC, Dumont M, Chemtob S, Lachapelle P. Rufiange M, et al. Among authors: koenekoop rk. Vision Res. 2003 Jun;43(12):1405-12. doi: 10.1016/s0042-6989(03)00118-4. Vision Res. 2003. PMID: 12742110 Free article.

6

Presumed photic retinopathy after cataract surgery: an angiographic study.

Gomolin JE, Koenekoop RK. Gomolin JE, et al. Among authors: koenekoop rk. Can J Ophthalmol. 1993 Aug;28(5):221-4. Can J Ophthalmol. 1993. PMID: 8221370 Clinical Trial.

7

Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.

Damji KF, Sohocki MM, Khan R, Gupta SK, Rahim M, Loyer M, Hussein N, Karim N, Ladak SS, Jamal A, Bulman D, Koenekoop RK. Damji KF, et al. Among authors: koenekoop rk. Can J Ophthalmol. 2001 Aug;36(5):252-9. doi: 10.1016/s0008-4182(01)80018-1. Can J Ophthalmol. 2001. PMID: 11548141

8

A Tyr368His RPE65 founder mutation is associated with variable expression and progression of early onset retinal dystrophy in 10 families of a genetically isolated population.

Yzer S, van den Born LI, Schuil J, Kroes HY, van Genderen MM, Boonstra FN, van den Helm B, Brunner HG, Koenekoop RK, Cremers FP. Yzer S, et al. Among authors: koenekoop rk. J Med Genet. 2003 Sep;40(9):709-13. doi: 10.1136/jmg.40.9.709. J Med Genet. 2003. PMID: 12960219 Free PMC article. No abstract available.

9

Functional analyses of mutant recessive GUCY2D alleles identified in Leber congenital amaurosis patients: protein domain comparisons and dominant negative effects.

Tucker CL, Ramamurthy V, Pina AL, Loyer M, Dharmaraj S, Li Y, Maumenee IH, Hurley JB, Koenekoop RK. Tucker CL, et al. Among authors: koenekoop rk. Mol Vis. 2004 Apr 20;10:297-303. Mol Vis. 2004. PMID: 15123990 Free article.

10

Successful RPE65 gene replacement and improved visual function in humans.

Koenekoop RK. Koenekoop RK. Ophthalmic Genet. 2008 Sep;29(3):89-91. doi: 10.1080/13816810802216480. Ophthalmic Genet. 2008. PMID: 18766986

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