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Ophthalmic Genetics Volume 35, 2014 - Issue 3
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Research Article

Next-generation Sequencing Revealed a Novel Mutation in the Gene Encoding the Beta Subunit of Rod Phosphodiesterase

Sherry ShenCollege of Physicians & Surgeons, Columbia University New York, NYUSA
,
Tharikarn SujirakulEdward S. Harkness Eye Institute, Columbia University New York, NYUSA;Department of Ophthalmology, Ramathibodi Hospital, Mahidol University BangkokThailand
&
Stephen H. TsangEdward S. Harkness Eye Institute, Columbia University New York, NYUSA;Bernard & Shirlee Brown Glaucoma Laboratory, Departments of Ophthalmology, Pathology & Cell Biology, Columbia University New York, NYUSA;New York-Presbyterian Hospital/Columbia University Medical Center New York, NYUSACorrespondence[email protected]
Pages 142-150 | Received 30 Mar 2014, Accepted 02 Apr 2014, Published online: 14 May 2014

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Vitor K. L. Takahashi, Júlia T. Takiuti, Ruben Jauregui, Luiz H. Lima & Stephen H. Tsang. (2018) Structural disease progression in PDE6-associated autosomal recessive retinitis pigmentosa. Ophthalmic Genetics 39:5, pages 610-614.
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Articles from other publishers (13)

Yuyu Li, Ruyi Li, Hehua Dai & Genlin Li. (2022) Novel variants in PDE6A and PDE6B genes and its phenotypes in patients with retinitis pigmentosa in Chinese families. BMC Ophthalmology 22:1.
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Riccardo Sangermano, Pooja Biswas, Lori S. Sullivan, Emily M. Place, Shyamanga Borooah, Juerg Straubhaar, Eric A. Pierce, Stephen P. Daiger, Kinga M. Bujakowska & Radha Ayaggari. (2022) Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration . Molecular Case Studies 8:7, pages a006247.
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Christopher J. G. Watson, Benjamin M. Nash, To Ha Loi, John R. Grigg & Robyn V. Jamieson. 2021. Advances in Vision Research, Volume III. Advances in Vision Research, Volume III 197 206 .
Vitor K. L. Takahashi, Júlia T. Takiuti, Ruben Jauregui, Christine L. Xu, Jimmy K. Duong, Luiz H. Lima & Stephen H. Tsang. (2019) Correlation between B-scan optical coherence tomography, en face thickness map ring and hyperautofluorescent ring in retinitis pigmentosa patients. Graefe's Archive for Clinical and Experimental Ophthalmology 257:8, pages 1601-1609.
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Minzhong Yu, Weiming Yan & Craig Beight. (2018) Lutein and Zeaxanthin Isomers Reduce Photoreceptor Degeneration in the Pde6b rd10 Mouse Model of Retinitis Pigmentosa . BioMed Research International 2018, pages 1-8.
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Vitor K.L. Takahashi, Júlia T. Takiuti, Ruben Jauregui, Vinit B. Mahajan & Stephen H. Tsang. (2018) Rates of Bone Spicule Pigment Appearance in Patients With Retinitis Pigmentosa Sine Pigmento. American Journal of Ophthalmology 195, pages 176-180.
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Karen Sophia Park, Christine L. Xu, Xuan Cui & Stephen H. Tsang. (2018) Reprogramming the metabolome rescues retinal degeneration. Cellular and Molecular Life Sciences 75:9, pages 1559-1566.
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Susanne F. KochJimmy K. DuongChun-Wei HsuYi-Ting TsaiChyuan-Sheng LinChristian A. Wahl-Schott & Stephen H. Tsang. (2017) Genetic rescue models refute nonautonomous rod cell death in retinitis pigmentosa. Proceedings of the National Academy of Sciences 114:20, pages 5259-5264.
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Kaspar Schuerch, Marcela Marsiglia, Winston Lee, Stephen H. Tsang & Janet R. Sparrow. (2016) MULTIMODAL IMAGING OF DISEASE-ASSOCIATED PIGMENTARY CHANGES IN RETINITIS PIGMENTOSA. Retina 36:Supplement 1, pages S147-S158.
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Lijuan Zhang, Jianhai Du, Sally Justus, Chun-Wei Hsu, Luis Bonet-Ponce, Wen-Hsuan Wu, Yi-Ting Tsai, Wei-Pu Wu, Yading Jia, Jimmy K. Duong, Vinit B. Mahajan, Chyuan-Sheng Lin, Shuang Wang, James B. Hurley & Stephen H. Tsang. (2016) Reprogramming metabolism by targeting sirtuin 6 attenuates retinal degeneration. Journal of Clinical Investigation 126:12, pages 4659-4673.
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Lu Yao, Lei Zhang, Lin-Song Qi, Wei Liu, Jing An, Bin Wang, Jun-Hui Xue & Zuo-Ming Zhang. (2016) The Time Course of Deafness and Retinal Degeneration in a Kunming Mouse Model for Usher Syndrome. PLOS ONE 11:5, pages e0155619.
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Susanne F. Koch, Yi-Ting Tsai, Jimmy K. Duong, Wen-Hsuan Wu, Chun-Wei Hsu, Wei-Pu Wu, Luis Bonet-Ponce, Chyuan-Sheng Lin & Stephen H. Tsang. (2015) Halting progressive neurodegeneration in advanced retinitis pigmentosa. Journal of Clinical Investigation 125:9, pages 3704-3713.
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Kazuki Kuniyoshi, Hiroyuki Sakuramoto, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Kazushige Tsunoda, Shunji Kusaka, Yoshikazu Shimomura & Takeshi Iwata. (2015) Reduced rod electroretinograms in carrier parents of two Japanese siblings with autosomal recessive retinitis pigmentosa associated with PDE6B gene mutations. Documenta Ophthalmologica 131:1, pages 71-79.
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