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Select item 83978241.

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

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Select item 64970902.

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

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Select item 28772383.

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

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Select item 88724464.

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

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Select item 74228185.

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

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Select item 73888426.

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

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Select item 51229557.

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

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Select item 41055918.

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

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Select item 29011929.

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

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Select item 1068555210.

Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy

Jiayu Li, Chanjuan Wang, Shaochi Zhang, Bo Cai, Bo Pan, Caihong Sun, Xiaolong Qi, Chunmei Ma, Wei Fang, Kangxin Jin, Xiaojun Bi, Zibing Jin, Wenjuan Zhuang

BMC Ophthalmol. 2023; 23: 489. Published online 2023 Nov 29. doi: 10.1186/s12886-023-03243-2

PMCID:: PMC10685552

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Select item 1068330611.

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases

Yuqin Liang, Xihao Sun, Chunwen Duan, Shibo Tang, Jiansu Chen

Stem Cell Res Ther. 2023; 14: 340. Published online 2023 Nov 27. doi: 10.1186/s13287-023-03564-5

PMCID:: PMC10683306

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Select item 1068036112.

Genetic alterations that deregulate RB and PDGFRA signaling pathways drive tumor progression in IDH2-mutant astrocytoma

Kensuke Tateishi, Yohei Miyake, Taishi Nakamura, Hiromichi Iwashita, Takahiro Hayashi, Akito Oshima, Hirokuni Honma, Hiroaki Hayashi, Kyoka Sugino, Miyui Kato, Kaishi Satomi, Satoshi Fujii, Takashi Komori, Tetsuya Yamamoto, Daniel P. Cahill, Hiroaki Wakimoto

Acta Neuropathol Commun. 2023; 11: 186. Published online 2023 Nov 27. doi: 10.1186/s40478-023-01683-x

PMCID:: PMC10680361

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Select item 1068012113.

Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss

Muhammad Noman, Shazia A. Bukhari, Sakina Rehman, Muhammad Qasim, Muhammad Ali, Saima Riazuddin, Zubair M. Ahmed

Mol Biol Rep. Author manuscript; available in PMC 2023 Nov 27.

Published in final edited form as: Mol Biol Rep. 2020 Dec; 47(12): 9987–9993. Published online 2020 Nov 24. doi: 10.1007/s11033-020-06016-y

PMCID:: PMC10680121

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Select item 1067154514.

Epidemiology of PAX6 Gene Pathogenic Variants and Expected Prevalence of PAX6-Associated Congenital Aniridia across the Russian Federation: A Nationwide Study

Tatyana A. Vasilyeva, Andrey V. Marakhonov, Anna A. Voskresenskaya, Vitaly V. Kadyshev, Natella V. Sukhanova, Marina E. Minzhenkova, Nadezhda V. Shilova, Alla A. Latyshova, Evgeny K. Ginter, Sergey I. Kutsev, Rena A. Zinchenko

Genes (Basel) 2023 Nov; 14(11): 2041. Published online 2023 Nov 4. doi: 10.3390/genes14112041

PMCID:: PMC10671545

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Select item 1067129015.

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation

Anna Stepanova, Natalya Ogorodova, Vitaly Kadyshev, Olga Shchagina, Sergei Kutsev, Aleksandr Polyakov

Genes (Basel) 2023 Nov; 14(11): 2056. Published online 2023 Nov 9. doi: 10.3390/genes14112056

PMCID:: PMC10671290

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Select item 1067107816.

Global Frequency Analyses of Canine Progressive Rod-Cone Degeneration–Progressive Retinal Atrophy and Collie Eye Anomaly Using Commercial Genetic Testing Data

Jessica A. Clark, Heidi Anderson, Jonas Donner, Susan Pearce-Kelling, Kari J. Ekenstedt

Genes (Basel) 2023 Nov; 14(11): 2093. Published online 2023 Nov 17. doi: 10.3390/genes14112093

PMCID:: PMC10671078

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Select item 1067050617.

De-Suppression of Mesenchymal Cell Identities and Variable Phenotypic Outcomes Associated with Knockout of Bbs1

Grace Mercedes Freke, Tiago Martins, Rosalind Jane Davies, Tina Beyer, Marian Seda, Emma Peskett, Naila Haq, Avishek Prasai, Georg Otto, Jeshmi Jeyabalan Srikaran, Victor Hernandez, Gaurav D. Diwan, Robert B. Russell, Marius Ueffing, Martina Huranova, Karsten Boldt, Philip L. Beales, Dagan Jenkins

Cells. 2023 Nov; 12(22): 2662. Published online 2023 Nov 20. doi: 10.3390/cells12222662

PMCID:: PMC10670506

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Select item 1066862118.

Deep Learning–Facilitated Study of the Rate of Change in Photoreceptor Outer Segment Metrics in RPGR-Related X-Linked Retinitis Pigmentosa

Yi-Zhong Wang, Katherine Juroch, Yineng Chen, Gui-Shuang Ying, David G. Birch

Invest Ophthalmol Vis Sci. 2023 Nov; 64(14): 31. Published online 2023 Nov 21. doi: 10.1167/iovs.64.14.31

PMCID:: PMC10668621

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Select item 1066861519.

Deep Density Estimation for Cone Counting and Diagnosis of Genetic Eye Diseases From Adaptive Optics Scanning Light Ophthalmoscope Images

Santiago Toledo-Cortés, Adam M. Dubis, Fabio A. González, Henning Müller

Transl Vis Sci Technol. 2023 Nov; 12(11): 25. Published online 2023 Nov 20. doi: 10.1167/tvst.12.11.25

PMCID:: PMC10668615

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Select item 1066861320.

Safety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis

Mohamad Sobh, Pamela S. Lagali, Maryam Ghiasi, Joshua Montroy, Michael Dollin, Bernard Hurley, Brian C. Leonard, Ioannis Dimopoulos, Mackenzie Lafreniere, Dean A. Fergusson, Manoj M. Lalu, Catherine Tsilfidis

Transl Vis Sci Technol. 2023 Nov; 12(11): 24. Published online 2023 Nov 20. doi: 10.1167/tvst.12.11.24