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Select item 77654411.

Colonization of Germ-Free Piglets with Mucinolytic and Non-Mucinolytic Bifidobacterium boum Strains Isolated from the Intestine of Wild Boar and Their Interference with Salmonella Typhimurium

Alla Splichalova, Radko Pechar, Jiri Killer, Zdislava Splichalova, Vera Neuzil Bunesova, Eva Vlkova, Hana Subrtova Salmonova, Igor Splichal

Microorganisms. 2020 Dec; 8(12): 2002. Published online 2020 Dec 15. doi: 10.3390/microorganisms8122002

PMCID:: PMC7765441

Abstract Article PDF–6.4M

Select item 109372592.

Coats-like Vasculopathy in Inherited Retinal Disease: Prevalence, Characteristics, Genetics, and Management

Malena Daich Varela, Giovanni Marco Conti, Samantha Malka, Veronika Vaclavik, Omar A. Mahroo, Andrew R. Webster, Viet Tran, Michel Michaelides

Ophthalmology. 2023 Dec; 130(12): 1327–1335. doi: 10.1016/j.ophtha.2023.07.027

PMCID:: PMC10937259

Abstract Article PDF–1.4M

Select item 104692173.

Investigating the associations of macular edema in retinitis pigmentosa

Juan D. Arias, Fritz Gerald P. Kalaw, Varsha Alex, Shaden H. Yassin, Henry Ferreyra, Evan Walker, Naomi E. Wagner, Shyamanga Borooah

Sci Rep. 2023; 13: 14187. Published online 2023 Aug 30. doi: 10.1038/s41598-023-41464-z

PMCID:: PMC10469217

Abstract Article PDF–1.1M

Select item 104504374.

Transcriptomic analysis of the ocular posterior segment completes a cell atlas of the human eye

Aboozar Monavarfeshani, Wenjun Yan, Christian Pappas, Kenechukwu A. Odenigbo, Zhigang He, Ayellet V. Segrè, Tavé van Zyl, Gregory S. Hageman, Joshua R. Sanes

Proc Natl Acad Sci U S A. 2023 Aug 22; 120(34): e2306153120. Published online 2023 Aug 11. doi: 10.1073/pnas.2306153120

PMCID:: PMC10450437

Abstract Article PDF–21M

Select item 104312115.

Rod and Cone Function Measured Objectively by Chromatic Pupil Campimetry Show a Different Preservation Between Distinct Genotypes in Retinitis Pigmentosa

Carina Kelbsch, Melanie Kempf, Ronja Jung, Friederike Kortüm, Milda Reith, Laura Kuehlewein, Susanne Kohl, Torsten Strasser, Tobias Peters, Helmut Wilhelm, Barbara Wilhelm, Krunoslav Stingl, Katarina Stingl

Invest Ophthalmol Vis Sci. 2023 Aug; 64(11): 18. Published online 2023 Aug 14. doi: 10.1167/iovs.64.11.18

PMCID:: PMC10431211

Abstract Article PDF–1.7M

Select item 104278996.

Clinical and Genetic Findings in Korean Patients with Choroideremia

Woo Gyeong Jo, Christopher Seungkyu Lee, Jinu Han

Korean J Ophthalmol. 2023 Aug; 37(4): 285–291. Published online 2023 Jun 19. doi: 10.3341/kjo.2023.0020

PMCID:: PMC10427899

Abstract Article PDF–8.5M

Select item 101511747.

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee

Jinu Han, Kwangsic Joo, Ungsoo Samuel Kim, Se Joon Woo, Eun Kyoung Lee, Joo Yong Lee, Tae Kwann Park, Sang Jin Kim, Suk Ho Byeon, on behalf of the Korea RPE65-IRD Consensus Paper Committee

Korean J Ophthalmol. 2023 Apr; 37(2): 166–186. Published online 2023 Mar 23. doi: 10.3341/kjo.2023.0008

PMCID:: PMC10151174

Abstract Article PDF–3.3M

Select item 101374678.

Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort

Sara Geada, Francisco Teixeira-Marques, Bruno Teixeira, Ana Luísa Carvalho, Nuno Lousan, Jorge Saraiva, Joaquim Murta, Rufino Silva, Xavier Zanlonghi, Sabine Defoort-Dhellemmes, Vasily Smirnov, Claire-Marie Dhaenens, Catherine Blanchet, Isabelle Meunier, João Pedro Marques

Genes (Basel) 2023 Apr; 14(4): 830. Published online 2023 Mar 30. doi: 10.3390/genes14040830

PMCID:: PMC10137467

Abstract Article PDF–994K

Select item 99986189.

The application and progression of CRISPR/Cas9 technology in ophthalmological diseases

Xumeng Hu, Beibei Zhang, Xiaoli Li, Miao Li, Yange Wang, Handong Dan, Jiamu Zhou, Yuanmeng Wei, Keke Ge, Pan Li, Zongming Song

Eye (Lond) 2023 Mar; 37(4): 607–617. Published online 2022 Aug 1. doi: 10.1038/s41433-022-02169-1

PMCID:: PMC9998618

Abstract Article PDF–969K

Select item 995608210.

Genetic Modifiers of Non-Penetrance and RNA Expression Levels in PRPF31-Associated Retinitis Pigmentosa in a Danish Cohort

Kristian Lisbjerg, Karen Grønskov, Mette Bertelsen, Lisbeth Birk Møller, Line Kessel

Genes (Basel) 2023 Feb; 14(2): 435. Published online 2023 Feb 8. doi: 10.3390/genes14020435

PMCID:: PMC9956082

Abstract Article PDF–1.2M

Select item 987370511.

Profiling of visual acuity and genotype correlations in RP2 patients: a cross-sectional comparative meta-analysis between carrier females and affected males

Omar Babar Saeed, Elias I. Traboulsi, Razek Georges Coussa

Eye (Lond) 2023 Feb; 37(2): 350–355. Published online 2022 Jan 29. doi: 10.1038/s41433-022-01954-2

PMCID:: PMC9873705

Abstract Article PDF–569K

Select item 982107912.

Correlation between the Serum Concentration of Vitamin A and Disease Severity in Patients Carrying p.G90D in RHO, the Most Frequent Gene Associated with Dominant Retinitis Pigmentosa: Implications for Therapy with Vitamin A

Tjaša Krašovec, Nina Kobal, Maja Šuštar Habjan, Marija Volk, Marko Hawlina, Ana Fakin

Int J Mol Sci. 2023 Jan; 24(1): 780. Published online 2023 Jan 2. doi: 10.3390/ijms24010780

PMCID:: PMC9821079

Abstract Article PDF–3.9M

Select item 965451113.

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

Janine Reurink, Jaap Oostrik, Marco Aben, Mariana Guimarães Ramos, Emma van Berkel, Monika Ołdak, Erwin van Wijk, Hannie Kremer, Susanne Roosing, Frans P. M. Cremers

Int J Mol Sci. 2022 Nov; 23(21): 13343. Published online 2022 Nov 1. doi: 10.3390/ijms232113343

PMCID:: PMC9654511

Abstract Article PDF–1.2M

Select item 932126114.

A Novel Hypothesis on Choroideremia-Manifesting Female Carriers: Could CHM In-Frame Variants Exert a Dominant Negative Effect? A Case Report

Niccolò Di Giosaffatte, Michele Valiante, Stefano Tricarico, Giulia Parise, Anna Maria De Negri, Guido Ricciotti, Lara Florean, Alessandro Paiardini, Irene Bottillo, Paola Grammatico

Genes (Basel) 2022 Jul; 13(7): 1268. Published online 2022 Jul 17. doi: 10.3390/genes13071268

PMCID:: PMC9321261

Abstract Article PDF–5.1M

Select item 931143815.

Kidney failure in Bardet–Biedl syndrome

Jennifer R. Meyer, Anthony D. Krentz, Richard L. Berg, Jesse G. Richardson, Jeremy Pomeroy, Scott J. Hebbring, Robert M. Haws

Clin Genet. 2022 Apr; 101(4): 429–441. Published online 2022 Mar 13. doi: 10.1111/cge.14119

PMCID:: PMC9311438

Abstract Article PDF–1.5M

Select item 930313916.

Progression Rate of Visual Function and Affecting Factors at Different Stages of Retinitis Pigmentosa

Nana Ito, Gen Miura, Yuki Shiko, Yohei Kawasaki, Takayuki Baba, Shuichi Yamamoto

Biomed Res Int. 2022; 2022: 7204954. Published online 2022 Jul 14. doi: 10.1155/2022/7204954

PMCID:: PMC9303139

Abstract Article PDF–569K

Select item 922579117.

Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations

Giulio Poli, Ivana Barravecchia, Gian Carlo Demontis, Andrea Sodi, Alessandro Saba, Stanislao Rizzo, Marco Macchia, Tiziano Tuccinardi

J Enzyme Inhib Med Chem. 2022; 37(1): 1765–1772. Published online 2022 Jun 21. doi: 10.1080/14756366.2022.2090547

PMCID:: PMC9225791

Abstract Article PDF–2.2M

Select item 912348618.

Autosomal Dominant Retinitis Pigmentosa–Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867

Junwen Wang, Yingwei Wang, Yi Jiang, Xueqing Li, Xueshan Xiao, Shiqiang Li, Xiaoyun Jia, Wenmin Sun, Panfeng Wang, Qingjiong Zhang

Invest Ophthalmol Vis Sci. 2022 May; 63(5): 19. Published online 2022 May 17. doi: 10.1167/iovs.63.5.19

PMCID:: PMC9123486

Abstract Article PDF–1.3M

Select item 900709419.

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study

Anke Tropitzsch, Thore Schade-Mann, Philipp Gamerdinger, Saskia Dofek, Björn Schulte, Martin Schulze, Florian Battke, Sarah Fehr, Saskia Biskup, Andreas Heyd, Marcus Müller, Hubert Löwenheim, Barbara Vona, Martin Holderried

Ear Hear. 2022 May-Jun; 43(3): 1049–1066. Published online 2021 Nov 8. doi: 10.1097/AUD.0000000000001159