Koenekoop RK - Search Results

1

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.

Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M; Finding of Rare Disease Genes (FORGE) Canada Consortium; Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R. Koenekoop RK, et al. Nat Genet. 2012 Sep;44(9):1035-9. doi: 10.1038/ng.2356. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842230 Free PMC article.

2

Visual improvement in Leber congenital amaurosis and the CRX genotype.

Koenekoop RK, Loyer M, Dembinska O, Beneish R. Koenekoop RK, et al. Ophthalmic Genet. 2002 Mar;23(1):49-59. doi: 10.1076/opge.23.1.49.2200. Ophthalmic Genet. 2002. PMID: 11910559

3

Electroretinographic abnormalities in parents of patients with Leber congenital amaurosis who have heterozygous GUCY2D mutations.

Koenekoop RK, Fishman GA, Iannaccone A, Ezzeldin H, Ciccarelli ML, Baldi A, Sunness JS, Lotery AJ, Jablonski MM, Pittler SJ, Maumenee I. Koenekoop RK, et al. Arch Ophthalmol. 2002 Oct;120(10):1325-30. doi: 10.1001/archopht.120.10.1325. Arch Ophthalmol. 2002. PMID: 12365911

4

The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini-review.

Koenekoop RK. Koenekoop RK. Ophthalmic Genet. 2003 Jun;24(2):75-80. doi: 10.1076/opge.24.2.75.13996. Ophthalmic Genet. 2003. PMID: 12789571 Review.

5

An overview of Leber congenital amaurosis: a model to understand human retinal development.

Koenekoop RK. Koenekoop RK. Surv Ophthalmol. 2004 Jul-Aug;49(4):379-98. doi: 10.1016/j.survophthal.2004.04.003. Surv Ophthalmol. 2004. PMID: 15231395 Review.

6

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. Ophthalmic Genet. 2004 Sep;25(3):205-17. doi: 10.1080/13816810490513451. Ophthalmic Genet. 2004. PMID: 15512997

7

Clinical phenotypes in carriers of Leber congenital amaurosis mutations.

Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Among authors: koenekoop rk. Ophthalmology. 2005 Feb;112(2):349-56. doi: 10.1016/j.ophtha.2004.08.023. Ophthalmology. 2005. PMID: 15691574

8

A new locus (RP31) for autosomal dominant retinitis pigmentosa maps to chromosome 9p.

Papaioannou M, Chakarova CF, Prescott DC, Waseem N, Theis T, Lopez I, Gill B, Koenekoop RK, Bhattacharya SS. Papaioannou M, et al. Among authors: koenekoop rk. Hum Genet. 2005 Dec;118(3-4):501-3. doi: 10.1007/s00439-005-0063-3. Epub 2005 Sep 28. Hum Genet. 2005. PMID: 16189705

9

Evaluation of genotype-phenotype associations in leber congenital amaurosis.

Galvin JA, Fishman GA, Stone EM, Koenekoop RK. Galvin JA, et al. Among authors: koenekoop rk. Retina. 2005 Oct-Nov;25(7):919-29. doi: 10.1097/00006982-200510000-00016. Retina. 2005. PMID: 16205573

10

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Koenekoop RK. Koenekoop RK. Ophthalmic Genet. 2005 Dec;26(4):175-9. doi: 10.1080/13816810500374441. Ophthalmic Genet. 2005. PMID: 16352478 Review.

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