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Retinitis

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

Bastian Linder, Anja Hirmer, Andreas Gal, Klaus Rüther, Hanno Jörn Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer

published 10 Nov 2014

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Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

published 30 Sep 2014

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Increased Risk of Acute Angle Closure in Retinitis Pigmentosa: A Population-Based Case-Control Study

Yu-Chieh Ko, Chia-Jen Liu, De-Kuang Hwang, Tzeng-Ji Chen, Catherine J. Liu

published 15 Sep 2014

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Binocular Glaucomatous Visual Field Loss and Its Impact on Visual Exploration - A Supermarket Study

Katrin Sippel, Enkelejda Kasneci, Kathrin Aehling, Martin Heister, Wolfgang Rosenstiel, Ulrich Schiefer, Elena Papageorgiou

published 27 Aug 2014

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Targeted Next-Generation Sequencing Reveals Novel USH2A Mutations Associated with Diverse Disease Phenotypes: Implications for Clinical and Molecular Diagnosis

Xue Chen, Xunlun Sheng, Xiaoxing Liu, Huiping Li, Yani Liu, Weining Rong, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Kanxing Zhao, Chen Zhao

published 18 Aug 2014

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Novel Compound Heterozygous Mutations in MYO7A Associated with Usher Syndrome 1 in a Chinese Family

Xue Gao, Guo-Jian Wang, Yong-Yi Yuan, Feng Xin, Ming-Yu Han, Jing-Qiao Lu, Hui Zhao, Fei Yu, Jin-Cao Xu, Mei-Guang Zhang, Jiang Dong, Xi Lin, Pu Dai

published 31 Jul 2014

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Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Weining Rong, Xue Chen, Kanxing Zhao, Yani Liu, Xiaoxing Liu, Shaoping Ha, Wenzhou Liu, Xiaoli Kang, Xunlun Sheng, Chen Zhao

published 15 May 2014

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Detection of Retinitis Pigmentosa by Differential Interference Contrast Microscopy

Juyeong Oh, Seok Hwan Kim, Yu Jeong Kim, Hyunho Lee, Joon Hyong Cho, Young Ho Cho, Chul-Ki Kim, Taik Jin Lee, Seok Lee, Ki Ho Park, Hyeong Gon Yu, Hyuk-jae Lee, Seong Chan Jun, Jae Hun Kim

published 08 May 2014

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Visual Function Assessment in Simulated Real-Life Situations in HIV-Infected Subjects

Giulio Barteselli, Jay Chhablani, Maria Laura Gomez, Aubrey L. Doede, Laurie Dustin, Igor Kozak, Dirk-Uwe Bartsch, Stanley P. Azen, Scott L. Letendre, William R. Freeman

published 08 May 2014

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A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O. Artemyev, Christian P. Hamel, Philippe Brabet

published 23 Apr 2014

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Molecular Genetics of FAM161A in North American Patients with Early-Onset Retinitis Pigmentosa

Giulia Venturini, Silvio Alessandro Di Gioia, Shyana Harper, Carol Weigel-DiFranco, Carlo Rivolta, Eliot L. Berson

published 20 Mar 2014

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Integrated Analysis of DNA Methylation and RNA Transcriptome during In Vitro Differentiation of Human Pluripotent Stem Cells into Retinal Pigment Epithelial Cells

Zhenshan Liu, Rongfeng Jiang, Songtao Yuan, Na Wang, Yun Feng, Ganlu Hu, Xianmin Zhu, Kevin Huang, Jieliang Ma, Guotong Xu, Qinghuai Liu, Zhigang Xue, Guoping Fan

published 17 Mar 2014

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Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

published 11 Mar 2014

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