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Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia.
- Published in:
- 2015
- By:
- Publication type:
- journal article
REG1A protects retinal photoreceptors from blue light damage.
- Published in:
- Annals of the New York Academy of Sciences, 2023, v. 1527, n. 1, p. 60, doi. 10.1111/nyas.15045
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- Publication type:
- Article
Six-month repeated irradiation of 650 nm low-level red light reduces the risk of myopia in children: a randomized controlled trial.
- Published in:
- International Ophthalmology, 2023, v. 43, n. 10, p. 3549, doi. 10.1007/s10792-023-02762-7
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- Publication type:
- Article
The Evolution and Visual Prognosis of Glial Proliferation with Different Grades after Macular Hole Surgery: An Optical Coherence Tomography-Based Study.
- Published in:
- Ophthalmologica, 2023, v. 246, n. 5/6, p. 314, doi. 10.1159/000533907
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- Publication type:
- Article
Identification of de novo germline mutations and causal genes for sporadic diseases using trio‐based whole‐exome/genome sequencing.
- Published in:
- Biological Reviews, 2018, v. 93, n. 2, p. 1014, doi. 10.1111/brv.12383
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- Publication type:
- Article
Induced pluripotent stem cells for retinal degenerative diseases: a new perspective on the challenges.
- Published in:
- Journal of Genetics, 2009, v. 88, n. 4, p. 417, doi. 10.1007/s12041-009-0063-5
- By:
- Publication type:
- Article
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
- Published in:
- Human Genetics, 2020, v. 139, n. 11, p. 1391, doi. 10.1007/s00439-020-02182-y
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- Publication type:
- Article
Prioritizing natural-selection signals from the deep-sequencing genomic data suggests multi-variant adaptation in Tibetan highlanders.
- Published in:
- National Science Review, 2019, v. 6, n. 6, p. 1201, doi. 10.1093/nsr/nwz108
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- Publication type:
- Article
mirDNMR: a gene-centered database of background de novo mutation rates in human.
- Published in:
- Nucleic Acids Research, 2017, v. 45, n. D1, p. D796, doi. 10.1093/nar/gkw1044
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- Publication type:
- Article
Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.
- Published in:
- Molecular Genetics & Genomics, 2023, v. 298, n. 3, p. 669, doi. 10.1007/s00438-023-02003-7
- By:
- Publication type:
- Article
Targeted RP9 ablation and mutagenesis in mouse photoreceptor cells by CRISPR-Cas9.
- Published in:
- Scientific Reports, 2017, p. 43062, doi. 10.1038/srep43062
- By:
- Publication type:
- Article
Novel CHM mutations identified in Chinese families with Choroideremia.
- Published in:
- Scientific Reports, 2016, p. 35360, doi. 10.1038/srep35360
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- Publication type:
- Article
Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.
- Published in:
- Scientific Reports, 2016, p. 35414, doi. 10.1038/srep35414
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- Publication type:
- Article
Genetic control of DNA methylation is largely shared across European and East Asian populations.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-47005-0
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- Publication type:
- Article
The Association between Maternal Reproductive Age and Progression of Refractive Error in Urban Students in Beijing.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0139383
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- Publication type:
- Article
Molecular Diagnosis of Putative Stargardt Disease by Capture Next Generation Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0095528
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- Publication type:
- Article
Comprehensive Molecular Diagnosis of Bardet-Biedl Syndrome by High-Throughput Targeted Exome Sequencing.
- Published in:
- PLoS ONE, 2014, v. 9, n. 3, p. 1, doi. 10.1371/journal.pone.0090599
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- Publication type:
- Article
Targeted Exome Sequencing Identified Novel <i>USH2A</i> Mutations in Usher Syndrome Families
- Published in:
- PLoS ONE, 2013, v. 8, n. 5, p. 1, doi. 10.1371/journal.pone.0063832
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- Publication type:
- Article
Modeling Retinal Degeneration Using Patient-Specific Induced Pluripotent Stem Cells.
- Published in:
- PLoS ONE, 2011, v. 6, n. 2, p. 1, doi. 10.1371/journal.pone.0017084
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- Publication type:
- Article
miR‐183 and miR‐96 orchestrate both glucose and fat utilization in skeletal muscle.
- Published in:
- EMBO Reports, 2021, v. 22, n. 9, p. 1, doi. 10.15252/embr.202052247
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- Publication type:
- Article
Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 22, p. 5229, doi. 10.3390/jcm10225229
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- Publication type:
- Article
Stem Cell-Based Regeneration and Restoration for Retinal Ganglion Cell: Recent Advancements and Current Challenges.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 987, doi. 10.3390/biom11070987
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- Publication type:
- Article
Global spectrum of USH2A mutation in inherited retinal dystrophies: Prompt message for development of base editing therapy.
- Published in:
- Frontiers in Aging Neuroscience, 2022, v. 14, p. 1, doi. 10.3389/fnagi.2022.948279
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- Publication type:
- Article
‘RetinoGenetics’: a comprehensive mutation database for genes related to inherited retinal degeneration.
- Published in:
- Database: The Journal of Biological Databases & Curation, 2014, v. 2014, p. 1, doi. 10.1093/database/bau047
- By:
- Publication type:
- Article
SLAMF7/STAT6 Pathway Inhibits Innate Immune Response in Late-Stage Human Acanthamoeba Keratitis: A Comparative Transcriptome Analysis.
- Published in:
- Microorganisms, 2023, v. 11, n. 2, p. 365, doi. 10.3390/microorganisms11020365
- By:
- Publication type:
- Article
Daily Low-Level Red Light for Spherical Equivalent Error and Axial Length in Children With Myopia: A Randomized Clinical Trial.
- Published in:
- JAMA Ophthalmology, 2024, v. 142, n. 6, p. 560, doi. 10.1001/jamaophthalmol.2024.0801
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- Publication type:
- Article
Requirements for human‐induced pluripotent stem cells.
- Published in:
- Cell Proliferation, 2022, v. 55, n. 4, p. 1, doi. 10.1111/cpr.13182
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- Publication type:
- Article
Consanguinity-based analysis of exome sequencing yields likely genetic causes in patients with inherited retinal dystrophy.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Mutational screening of AGRN, SLC39A5, SCO2, P4HA2, BSG, ZNF644, and CPSF1 in a Chinese cohort of 103 patients with nonsyndromic high myopia.
- Published in:
- Molecular Vision, 2021, v. 27, p. 706
- By:
- Publication type:
- Article
CFI-rs7356506 polymorphisms associated with Vogt-Koyanagi-Harada syndrome.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
A new subset of small stem cells in bovine bone marrow stromal cell populations.
- Published in:
- Journal of Cellular Biochemistry, 2019, v. 120, n. 8, p. 13881, doi. 10.1002/jcb.28661
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- Publication type:
- Article
SLC7A14 linked to autosomal recessive retinitis pigmentosa.
- Published in:
- Nature Communications, 2014, v. 5, n. 3, p. 3517, doi. 10.1038/ncomms4517
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- Publication type:
- Article
Molecular genetic analysis and phenotypic characteristics of a consanguineous family with glycogen storage disease type Ia.
- Published in:
- Molecular Medicine Reports, 2016, v. 14, n. 4, p. 3251, doi. 10.3892/mmr.2016.5617
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- Publication type:
- Article
Molecular screening of the LPCAT1 gene in patients with retinitis pigmentosa without defined mutations in known retinitis pigmentosa genes.
- Published in:
- Molecular Medicine Reports, 2015, v. 12, n. 4, p. 5983, doi. 10.3892/mmr.2015.4204
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- Publication type:
- Article
Front Cover.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. i, doi. 10.1111/cge.13584
- By:
- Publication type:
- Article
Whole‐exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod‐cone dystrophy, cataract, and posterior staphyloma) syndrome.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 61, doi. 10.1111/cge.13541
- By:
- Publication type:
- Article
Foveal Microstructure and Visual Outcomes after Pars Plana Vitrectomy in Patients with Different Types of Epiretinal Membrane Foveoschisis.
- Published in:
- Ophthalmic Research, 2024, v. 67, n. 1, p. 137, doi. 10.1159/000536206
- By:
- Publication type:
- Article
Closure Grading and Visual Outcome in Patients with Large Idiopathic Macular Holes: A Spectral-Domain Optical Coherence Tomography Observation.
- Published in:
- Ophthalmic Research, 2024, v. 67, n. 1, p. 192, doi. 10.1159/000536205
- By:
- Publication type:
- Article
Emerging roles of non‐coding RNAs in retinal diseases: A review.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 8, p. 1085, doi. 10.1111/ceo.13806
- By:
- Publication type:
- Article
Mutation spectrum and genotype‐phenotype correlation of inherited retinal dystrophy in Taiwan.
- Published in:
- Clinical & Experimental Ophthalmology, 2020, v. 48, n. 4, p. 486, doi. 10.1111/ceo.13708
- By:
- Publication type:
- Article
Targeted exome sequencing identified two novel truncation mutations in GPR98 causing Usher syndrome.
- Published in:
- Clinical & Experimental Ophthalmology, 2016, v. 44, n. 3, p. 197, doi. 10.1111/ceo.12664
- By:
- Publication type:
- Article
REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 12, p. 2218, doi. 10.1093/hmg/ddx111
- By:
- Publication type:
- Article
COCO enhances the efficiency of photoreceptor precursor differentiation in early human embryonic stem cell-derived retinal organoids.
- Published in:
- Stem Cell Research & Therapy, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13287-020-01883-5
- By:
- Publication type:
- Article
Correction: A Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal Degeneration.
- Published in:
- 2016
- By:
- Publication type:
- Correction Notice
A Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal Degeneration.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0149663
- By:
- Publication type:
- Article
Targeting NLRP3 and Staphylococcal pore‐forming toxin receptors in human‐induced pluripotent stem cell‐derived macrophages.
- Published in:
- Journal of Leukocyte Biology, 2020, v. 108, n. 3, p. 967, doi. 10.1002/JLB.4MA0420-497R
- By:
- Publication type:
- Article
CFHR2-rs2986127 as a genetic protective marker for acute anterior uveitis in Chinese patients.
- Published in:
- Journal of Gene Medicine, 2016, v. 18, n. 8, p. 193, doi. 10.1002/jgm.2890
- By:
- Publication type:
- Article
Acute onset of decreased vision after violently vomiting: A case report.
- Published in:
- European Journal of Ophthalmology, 2024, v. 34, n. 2, p. NP87, doi. 10.1177/11206721231208665
- By:
- Publication type:
- Article
A recurrent deletion mutation in OPA1 causes autosomal dominant optic atrophy in a Chinese family.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep06936
- By:
- Publication type:
- Article
Comparison of non-canonical PAMs for CRISPR/Cas9-mediated DNA cleavage in human cells.
- Published in:
- Scientific Reports, 2014, p. 1, doi. 10.1038/srep05405
- By:
- Publication type:
- Article