Koenekoop RK - Search Results

1

Novel RPGR mutations with distinct retinitis pigmentosa phenotypes in French-Canadian families.

Koenekoop RK, Loyer M, Hand CK, Al Mahdi H, Dembinska O, Beneish R, Racine J, Rouleau GA. Koenekoop RK, et al. Am J Ophthalmol. 2003 Oct;136(4):678-87. doi: 10.1016/s0002-9394(03)00331-3. Am J Ophthalmol. 2003. PMID: 14516808

2

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.

3

Mutational analysis and clinical correlation in Leber congenital amaurosis.

Dharmaraj SR, Silva ER, Pina AL, Li YY, Yang JM, Carter CR, Loyer MK, El-Hilali HK, Traboulsi EK, Sundin OK, Zhu DK, Koenekoop RK, Maumenee IH. Dharmaraj SR, et al. Among authors: koenekoop rk. Ophthalmic Genet. 2000 Sep;21(3):135-50. Ophthalmic Genet. 2000. PMID: 11035546

4

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

5

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

6

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

7

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.

8

A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.

Piña AL, Baumert U, Loyer M, Koenekoop RK. Piña AL, et al. Among authors: koenekoop rk. Mol Vis. 2004 Apr 8;10:265-71. Mol Vis. 2004. PMID: 15094710 Free article.

9

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

10

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

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