PMC Links for OMIM (Select 604232) - PMC

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Items: 6

Select item 60157291.

Phenotypic Expansion and Progression of SPATA7-associated Retinitis Pigmentosa

Jesse D. Sengillo, Winston Lee, Colleen G. Bilancia, Vaidehi Jobanputra, Stephen H. Tsang

Doc Ophthalmol. Author manuscript; available in PMC 2019 Apr 1.

Published in final edited form as: Doc Ophthalmol. 2018 Apr; 136(2): 125–133. Published online 2018 Feb 6. doi: 10.1007/s10633-018-9626-1

PMCID:: PMC6015729

Abstract Article PDF–818K

Select item 57565132.

Conditional Loss of Spata7 in Photoreceptors Causes Progressive Retinal Degeneration in Mice

Aiden Eblimit, Smriti Agrawal, Kandace Thomas, Anastassov Ivan Assenov, Tajiguli Abulikemu, Graeme Mardon, Rui Chen

Exp Eye Res. Author manuscript; available in PMC 2019 Jan 1.

Published in final edited form as: Exp Eye Res. 2018 Jan; 166: 120–130. Published online 2017 Oct 31. doi: 10.1016/j.exer.2017.10.015

Correction in:: Exp Eye Res. 2018 Mar 23; 171: 119.

PMCID:: PMC5756513

Abstract Article PDF–2.9M

Select item 49888093.

SPATA7: Evolving Phenotype from Cone-Rod Dystrophy to Retinitis Pigmentosa

Rodrigo Matsui, David B. McGuigan, III, Michaela L. Gruzensky, Tomas S. Aleman, Sharon B. Schwartz, Alexander Sumaroka, Robert K. Koenekoop, Artur V. Cideciyan, Samuel G. Jacobson

Ophthalmic Genet. Author manuscript; available in PMC 2017 Sep 1.

Published in final edited form as: Ophthalmic Genet. 2016 Sep; 37(3): 333–338. Published online 2016 Feb 8. doi: 10.3109/13816810.2015.1130154

PMCID:: PMC4988809

Abstract Article PDF–1.1M

Select item 43513784.

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina

Aiden Eblimit, Thanh-Minh T. Nguyen, Yiyun Chen, Julian Esteve-Rudd, Hua Zhong, Stef Letteboer, Jeroen Van Reeuwijk, David L. Simons, Qian Ding, Ka Man Wu, Yumei Li, Sylvia Van Beersum, Yalda Moayedi, Huidan Xu, Patrick Pickard, Keqing Wang, Lin Gan, Samuel M. Wu, David S. Williams, Graeme Mardon, Ronald Roepman, Rui Chen

Hum Mol Genet. 2015 Mar 15; 24(6): 1584–1601. Published online 2014 Nov 14. doi: 10.1093/hmg/ddu573

PMCID:: PMC4351378

Abstract Article PDF–1.7M

Select item 26959875.

Mutation Survey of Known LCA Genes and Loci in the Saudi Arabian Population

Yumei Li, Hui Wang, Jianlan Peng, Richard A. Gibbs, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Rui Chen

Invest Ophthalmol Vis Sci. Author manuscript; available in PMC 2009 Jun 14.

Published in final edited form as: Invest Ophthalmol Vis Sci. 2009 Mar; 50(3): 1336–1343. Published online 2008 Oct 20. doi: 10.1167/iovs.08-2589

PMCID:: PMC2695987

Abstract Article PDF–1016K

Select item 26680106.

Mutations in SPATA7 Cause Leber Congenital Amaurosis and Juvenile Retinitis Pigmentosa

Hui Wang, Anneke I. den Hollander, Yalda Moayedi, Abuduaini Abulimiti, Yumei Li, Rob W.J. Collin, Carel B. Hoyng, Irma Lopez, Molly Bray, Richard Alan Lewis, James R. Lupski, Graeme Mardon, Robert K. Koenekoop, Rui Chen

Am J Hum Genet. 2009 Mar 13; 84(3): 380–387. doi: 10.1016/j.ajhg.2009.02.005