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Items: 1 to 20 of 4431

1.
The coincidence of two ultra-rare hereditary eye diseases: gyrate atrophy and Kjer optic atrophy - a surprising diagnosis based on next-generation sequencing
Anna Skorczyk-Werner, Dorota Raczynska, Anna Wawrocka, Dinara Zholdybayeva, Nurgul Yakhiyayeva, Maciej Robert Krawczynski
Intractable Rare Dis Res. 2021 Aug; 10(3): 202–206. doi: 10.5582/irdr.2021.01042
PMCID:
PMC8397824
ArticlePDF–553K
2.
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases
Panfeng Wang, Shiqiang Li, Wenming Sun, Xueshan Xiao, Xiaoyun Jia, Mengchu Liu, Lieqiang Xu, Yuxi Long, Qingjiong Zhang
Transl Vis Sci Technol. 2019 Mar; 8(2): 21. Published online 2019 Apr 25. doi: 10.1167/tvst.8.2.21
PMCID:
PMC6497090
ArticlePDF–1.1M
3.
Hereditary and Clinical Features of Retinitis Pigmentosa in Koreans
Sun Ho Lee, Hyeong Gon Yu, Jong Mo Seo, Sang Woong Moon, Jun Woong Moon, Sang Jin Kim, Hum Chung
J Korean Med Sci. 2010 Jun; 25(6): 918–923. Published online 2010 May 24. doi: 10.3346/jkms.2010.25.6.918
PMCID:
PMC2877238
ArticlePDF–147K
4.
Developing Non-Human Primate Models of Inherited Retinal Diseases
Ivan Seah, Debbie Goh, Hwei Wuen Chan, Xinyi Su
Genes (Basel) 2022 Feb; 13(2): 344. Published online 2022 Feb 14. doi: 10.3390/genes13020344
PMCID:
PMC8872446
ArticlePDF–314K
5.
Mutation Screening of mtDNA Combined Targeted Exon Sequencing in a Cohort With Suspected Hereditary Optic Neuropathy
Jian-Kang Li, Wei Li, Feng-Juan Gao, Shou-Fang Qu, Fang-Yuan Hu, Sheng-Hai Zhang, Li-Li Li, Zi-Wei Wang, Yong Qiu, Lu-Sheng Wang, Jie Huang, Ji-Hong Wu, Fang Chen
Transl Vis Sci Technol. 2020 Jul; 9(8): 11. Published online 2020 Jul 8. doi: 10.1167/tvst.9.8.11
PMCID:
PMC7422818
ArticlePDF–1.5M
6.
Vitamin A and fish oils for preventing the progression of retinitis pigmentosa
Cochrane Database Syst Rev. 2020; 2020(6): CD008428. Published online 2020 Jun 23. doi: 10.1002/14651858.CD008428.pub3
PMCID:
PMC7388842
ArticlePDF–513K
7.
Two novel mutations in PRPF3 causing autosomal dominant retinitis pigmentosa
Zilin Zhong, Min Yan, Wan Sun, Zehua Wu, Liyun Han, Zheng Zhou, Fang Zheng, Jianjun Chen
Sci Rep. 2016; 6: 37840. Published online 2016 Nov 25. doi: 10.1038/srep37840
Correction in:
Sci Rep. 2017; 7: 45248.
PMCID:
PMC5122955
ArticlePDF–857K
8.
Genome-wide association and linkage analyses localize a progressive retinal atrophy locus in Persian cats
Hasan Alhaddad, Barbara Gandolfi, Robert A. Grahn, Hyung-Chul Rah, Carlyn B. Peterson, David J. Maggs, Kathryn L. Good, Niels C. Pedersen, Leslie A. Lyons
Mamm Genome. 2014; 25(7): 354–362. Published online 2014 Apr 29. doi: 10.1007/s00335-014-9517-z
PMCID:
PMC4105591
ArticlePDF–647K
9.
PAX3 mutations and clinical characteristics in Chinese patients with Waardenburg syndrome type 1
Juan Wang, Shiqiang Li, Xueshan Xiao, Panfeng Wang, Xiangming Guo, Qingjiong Zhang
Mol Vis. 2010; 16: 1146–1153. Published online 2010 Jun 22.
PMCID:
PMC2901192
ArticlePDF–996K
10.
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes
Jan-Philipp Bodenbender, Valerio Marino, Julia Philipp, Anke Tropitzsch, Christoph Kernstock, Katarina Stingl, Melanie Kempf, Tobias B. Haack, Theresia Zuleger, Pascale Mazzola, Susanne Kohl, Nicole Weisschuh, Daniele Dell’Orco, Laura Kühlewein
Sci Rep. 2024; 14: 10551. Published online 2024 May 8. doi: 10.1038/s41598-024-61019-0
PMCID:
PMC11078972
ArticlePDF–2.3M
11.
Prominin 1 is crucial for the early development of photoreceptor outer segments
Sila Yanardag, Scott Rhodes, Thamaraiselvi Saravanan, Tongju Guan, Visvanathan Ramamurthy
Sci Rep. 2024; 14: 10498. Published online 2024 May 7. doi: 10.1038/s41598-024-60989-5
PMCID:
PMC11076519
ArticlePDF–3.5M
12.
Mitochondrial gene replacement in human pluripotent stem cell-derived neural progenitors
S Iyer, E Xiao, K Alsayegh, N Eroshenko, MJ Riggs, JP Bennett, Jr, RR Rao
Gene Ther. Author manuscript; available in PMC 2024 May 6.
Published in final edited form as: Gene Ther. 2012 May; 19(5): 469–475. Published online 2011 Sep 15. doi: 10.1038/gt.2011.134
PMCID:
PMC11071659
ArticlePDF–1.3M
13.
Transcription factor 4 promotes increased corneal endothelial cellular migration by altering microtubules in Fuchs endothelial corneal dystrophy
Judy Yan, Shanti Mehta, Keya Patel, Narisa Dhupar, Ness Little, Stephan Ong Tone
Sci Rep. 2024; 14: 10276. Published online 2024 May 4. doi: 10.1038/s41598-024-61170-8
PMCID:
PMC11069521
ArticlePDF–4.4M
14.
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
Alejandra Daruich, Melinda Duncan, Matthieu P. Robert, Neil Lagali, Elena V. Semina, Daniel Aberdam, Stefano Ferrari, Vito Romano, Cyril Burin des Roziers, Rabia Benkortebi, Nathalie De Vergnes, Michel Polak, Frederic Chiambaretta, Ken K. Nischal, Francine Behar-Cohen, Sophie Valleix, Dominique Bremond-Gignac
Prog Retin Eye Res. Author manuscript; available in PMC 2024 May 1.
Published in final edited form as: Prog Retin Eye Res. 2023 Jul; 95: 101133. Published online 2022 Oct 22. doi: 10.1016/j.preteyeres.2022.101133
PMCID:
PMC11062406
ArticlePDF–2.2M
15.
Differences in Childhood Growth Parameters Between Patients With Somatic and Heritable Retinoblastoma
Roxana M. Hicks, Xunda Ji, Yihua Zou, Sadia Sultana, Riffat Rashid, Sadik T. Sherief, Nathalie Cassoux, Juan L. Garcia Leon, Rosdali Y. Diaz Coronado, Arturo M. Z. López, Tatiana L. Ushakova, Vladimir G. Polyakov, Soma R. Roy, Alia Ahmad, M. Ashwin Reddy, Mandeep S. Sagoo, Lamis Al Harby, Jesse L. Berry, Ashley Polski, Nicholas J. Astbury, Covadonga Bascaran, Sharon Blum, Richard Bowman, Matthew J. Burton, Nir Gomel, Naama Keren-Froim, Shiran Madgar, Marcia Zondervan, Swathi Kaliki, Ido D. Fabian, Andrew W. Stacey
Invest Ophthalmol Vis Sci. 2024 Apr; 65(4): 39. Published online 2024 Apr 25. doi: 10.1167/iovs.65.4.39
PMCID:
PMC11055500
ArticlePDF–277K
16.
Metabolomics facilitates differential diagnosis in common inherited retinal degenerations by exploring their profiles of serum metabolites
Wei-Chieh Wang, Chu-Hsuan Huang, Hsin-Hsiang Chung, Pei-Lung Chen, Fung-Rong Hu, Chang-Hao Yang, Chung-May Yang, Chao-Wen Lin, Cheng-Chih Hsu, Ta-Ching Chen
Nat Commun. 2024; 15: 3562. Published online 2024 Apr 26. doi: 10.1038/s41467-024-47911-3
PMCID:
PMC11053129
ArticlePDF–3.0M
17.
Syndromic Retinitis Pigmentosa: A 15-Patient Study
Ianne Pessoa Holanda, Priscila Hae Hyun Rim, Rare Genomes Project Consortium, Mara Sanches Guaragna, Vera Lúcia Gil-da-Silva-Lopes, Carlos Eduardo Steiner
Genes (Basel) 2024 Apr; 15(4): 516. Published online 2024 Apr 20. doi: 10.3390/genes15040516
PMCID:
PMC11050127
ArticlePDF–1.3M
18.
Role of Protein Tyrosine Phosphatase Receptor Type E (PTPRE) in Chemoresistant Retinoblastoma
Lars Mohren, Annika Doege, Natalia Miroschnikov, Oliver Dräger, Maike Anna Busch, Nicole Dünker
Int J Mol Sci. 2024 Apr; 25(8): 4572. Published online 2024 Apr 22. doi: 10.3390/ijms25084572
PMCID:
PMC11049872
ArticlePDF–3.7M
19.
Syndromic ciliopathy: a taiwanese single-center study
Yu-Wen Pan, Tsung-Ying Ou, Yen-Yin Chou, Pao-Lin Kuo, Hui-Pin Hsiao, Pao-Chin Chiu, Ju-Li Lin, Fu-Sung Lo, Chung-Hsing Wang, Peng-Chieh Chen, Meng-Che Tsai
BMC Med Genomics. 2024; 17: 106. Published online 2024 Apr 26. doi: 10.1186/s12920-024-01880-0
PMCID:
PMC11046915
ArticlePDF–1.6M
20.
Disease modeling and pharmacological rescue of autosomal dominant retinitis pigmentosa associated with RHO copy number variation
Sangeetha Kandoi, Cassandra Martinez, Kevin Xu Chen, Miika Mehine, L Vinod K Reddy, Brian C Mansfield, Jacque L Duncan, Deepak A Lamba
eLife. 2024; 12: RP90575. Published online 2024 Apr 25. doi: 10.7554/eLife.90575
PMCID:
PMC11045220
ArticlePDF–13M

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