Koenekoop RK - Search Results

1

Retinal phenotypes in patients homozygous for the G1961E mutation in the ABCA4 gene.

Burke TR, Fishman GA, Zernant J, Schubert C, Tsang SH, Smith RT, Ayyagari R, Koenekoop RK, Umfress A, Ciccarelli ML, Baldi A, Iannaccone A, Cremers FP, Klaver CC, Allikmets R. Burke TR, et al. Among authors: koenekoop rk. Invest Ophthalmol Vis Sci. 2012 Jul 3;53(8):4458-67. doi: 10.1167/iovs.11-9166. Invest Ophthalmol Vis Sci. 2012. PMID: 22661473 Free PMC article.

2

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.

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

CRB1 mutation spectrum in inherited retinal dystrophies.

den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, Kellner U, van den Born LI, Heckenlively JR, Hoyng CB, Handford PA, Roepman R, Cremers FP. den Hollander AI, et al. Among authors: koenekoop rk. Hum Mutat. 2004 Nov;24(5):355-69. doi: 10.1002/humu.20093. Hum Mutat. 2004. PMID: 15459956 Review.

6

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

7

Genotyping microarray (disease chip) for Leber congenital amaurosis: detection of modifier alleles.

Zernant J, Külm M, Dharmaraj S, den Hollander AI, Perrault I, Preising MN, Lorenz B, Kaplan J, Cremers FP, Maumenee I, Koenekoop RK, Allikmets R. Zernant J, et al. Among authors: koenekoop rk. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3052-9. doi: 10.1167/iovs.05-0111. Invest Ophthalmol Vis Sci. 2005. PMID: 16123401

8

Sequencing arrays for screening multiple genes associated with early-onset human retinal degenerations on a high-throughput platform.

Mandal MN, Heckenlively JR, Burch T, Chen L, Vasireddy V, Koenekoop RK, Sieving PA, Ayyagari R. Mandal MN, et al. Among authors: koenekoop rk. Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3355-62. doi: 10.1167/iovs.05-0007. Invest Ophthalmol Vis Sci. 2005. PMID: 16123440

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

CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of leber congenital amaurosis.

Yzer S, Fishman GA, Racine J, Al-Zuhaibi S, Chakor H, Dorfman A, Szlyk J, Lachapelle P, van den Born LI, Allikmets R, Lopez I, Cremers FP, Koenekoop RK. Yzer S, et al. Among authors: koenekoop rk. Invest Ophthalmol Vis Sci. 2006 Sep;47(9):3736-44. doi: 10.1167/iovs.05-1637. Invest Ophthalmol Vis Sci. 2006. PMID: 16936081

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