Found: 143
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Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.
- Published in:
- Human Genetics, 2010, v. 127, n. 1, p. 33, doi. 10.1007/s00439-009-0729-3
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- Publication type:
- Article
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.
- Published in:
- Human Genetics, 2008, v. 124, n. 4, p. 379, doi. 10.1007/s00439-008-0555-z
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- Publication type:
- Article
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-56121-2
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- Publication type:
- Article
High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia.
- Published in:
- G3: Genes | Genomes | Genetics, 2017, v. 7, n. 10, p. 3257, doi. 10.1534/g3.117.300109
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- Publication type:
- Article
TGC repeat expansion in the TCF4 gene increases the risk of Fuchs’ endothelial corneal dystrophy in Australian cases.
- Published in:
- PLoS ONE, 2017, v. 12, n. 8, p. 1, doi. 10.1371/journal.pone.0183719
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- Publication type:
- Article
Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0172427
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- Publication type:
- Article
Multiallelic copy number variation in the complement component 4A (C4A) gene is associated with late-stage age-related macular degeneration (AMD).
- Published in:
- 2016
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- Publication type:
- journal article
The effect of insulin on response to intravitreal anti-VEGF injection in diabetic macular edema in type 2 diabetes mellitus.
- Published in:
- 2022
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- Publication type:
- journal article
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
- Published in:
- 2018
- By:
- Publication type:
- Abstract
Meta-analysis of human methylation data for evidence of sex-specific autosomal patterns.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-981
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- Publication type:
- Article
Predictive factors for treatment outcomes with intravitreal anti-vascular endothelial growth factor injections in diabetic macular edema in clinical practice.
- Published in:
- International Journal of Retina & Vitreous, 2023, v. 9, n. 1, p. 1, doi. 10.1186/s40942-023-00453-0
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- Publication type:
- Article
Engineering domain-inlaid SaCas9 adenine base editors with reduced RNA off-targets and increased on-target DNA editing.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18715-y
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- Publication type:
- Article
Electrical Stimulation Promotes Cardiac Differentiation of Human Induced Pluripotent Stem Cells.
- Published in:
- Thrombosis, 2015, p. 1, doi. 10.1155/2016/1718041
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- Publication type:
- Article
Key challenges in bringing CRISPR-mediated somatic cell therapy into the clinic.
- Published in:
- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0475-4
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- Publication type:
- Article
Uteroglobin and FLRG concentrations in aqueous humor are associated with age in primary open angle glaucoma patients.
- Published in:
- 2018
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- Publication type:
- journal article
Specifications of the ACMG/AMP variant curation guidelines for myocilin: Recommendations from the clingen glaucoma expert panel.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 2170, doi. 10.1002/humu.24482
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- Publication type:
- Article
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.
- Published in:
- Communications Biology, 2019, v. 2, n. 1, p. N.PAG, doi. 10.1038/s42003-019-0634-9
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- Publication type:
- Article
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 9, p. 2018, doi. 10.3390/cells9092018
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- Publication type:
- Article
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 6, p. 632, doi. 10.1038/ejhg.2011.248
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- Publication type:
- Article
The association between pterygium and conjunctival ultraviolet autofluorescence: The Norfolk Island Eye Study.
- Published in:
- Acta Ophthalmologica (1755375X), 2013, v. 91, n. 4, p. 363, doi. 10.1111/j.1755-3768.2011.02314.x
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- Publication type:
- Article
Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.
- Published in:
- Acta Ophthalmologica (1755375X), 2010, v. 88, n. 1, p. 70, doi. 10.1111/j.1755-3768.2009.01786.x
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- Publication type:
- Article
propeller: testing for differences in cell type proportions in single cell data.
- Published in:
- Bioinformatics, 2022, v. 38, n. 20, p. 4720, doi. 10.1093/bioinformatics/btac582
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- Publication type:
- Article
The Ark: a customizable web-based data management tool for health and medical research.
- Published in:
- Bioinformatics, 2017, v. 33, n. 4, p. 624, doi. 10.1093/bioinformatics/btw675
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- Publication type:
- Article
Diagnostic yield of candidate genes in an Australian corneal dystrophy cohort.
- Published in:
- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 10, p. 1, doi. 10.1002/mgg3.2023
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- Publication type:
- Article
Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.
- Published in:
- Molecular Genetics & Genomic Medicine, 2016, v. 4, n. 6, p. 624, doi. 10.1002/mgg3.248
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- Publication type:
- Article
Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 6, p. 569, doi. 10.1111/j.1442-9071.2011.02742.x
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- Publication type:
- Article
Missing X and Y: a review of participant ages in population-based eye studies.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 3, p. 305, doi. 10.1111/j.1442-9071.2011.02626.x
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- Publication type:
- Article
Influence of weather conditions on ophthalmic emergency presentations.
- Published in:
- Clinical & Experimental Ophthalmology, 2012, v. 40, n. 3, p. 322, doi. 10.1111/j.1442-9071.2011.02587.x
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- Publication type:
- Article
Prevalence and predictors of refractive error in a genetically isolated population: the Norfolk Island Eye Study.
- Published in:
- Clinical & Experimental Ophthalmology, 2011, v. 39, n. 8, p. 734, doi. 10.1111/j.1442-9071.2011.02579.x
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- Publication type:
- Article
Classification of iris colour: review and refinement of a classification schema.
- Published in:
- Clinical & Experimental Ophthalmology, 2011, v. 39, n. 5, p. 462, doi. 10.1111/j.1442-9071.2010.02487.x
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- Publication type:
- Article
Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study.
- Published in:
- Clinical & Experimental Ophthalmology, 2011, v. 39, n. 2, p. 126, doi. 10.1111/j.1442-9071.2010.02429.x
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- Publication type:
- Article
Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma.
- Published in:
- Clinical & Experimental Ophthalmology, 2009, v. 37, n. 9, p. 836, doi. 10.1111/j.1442-9071.2009.02181.x
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- Publication type:
- Article
Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype.
- Published in:
- Clinical & Experimental Ophthalmology, 2009, v. 37, n. 2, p. 201, doi. 10.1111/j.1442-9071.2009.02002.x
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- Publication type:
- Article
The pathogenesis of the glaucomas: nature versus nurture.
- Published in:
- 2008
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- Publication type:
- Letter
How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania.
- Published in:
- Clinical & Experimental Ophthalmology, 2007, v. 35, n. 9, p. 793, doi. 10.1111/j.1442-9071.2007.01612.x
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- Publication type:
- Article
Complex genetics of complex traits: the case of primary open-angle glaucoma.
- Published in:
- Clinical & Experimental Ophthalmology, 2006, v. 34, n. 5, p. 472, doi. 10.1111/j.1442-9071.2006.01268.x
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- Publication type:
- Article
Correspondence.
- Published in:
- 2006
- By:
- Publication type:
- Letter
Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.
- Published in:
- Clinical & Experimental Ophthalmology, 2005, v. 33, n. 3, p. 233, doi. 10.1111/j.1442-9071.2005.01018.x
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- Publication type:
- Article
Relationship between corneal thickness and optic disc damage in glaucoma.
- Published in:
- Clinical & Experimental Ophthalmology, 2005, v. 33, n. 2, p. 158, doi. 10.1111/j.1442-9071.2005.00971.x
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- Publication type:
- Article
Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37388-8
- By:
- Publication type:
- Article
A Geometric Morphometric Assessment of Hand Shape and Comparison to the 2D:4D Digit Ratio as a Marker of Sexual Dimorphism.
- Published in:
- Twin Research & Human Genetics, 2013, v. 16, n. 2, p. 590, doi. 10.1017/thg.2013.5
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- Publication type:
- Article
Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error.
- Published in:
- Twin Research & Human Genetics, 2012, v. 15, n. 5, p. 624, doi. 10.1017/thg.2012.22
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- Publication type:
- Article
Single cell eQTL analysis identifies cell type-specific genetic control of gene expression in fibroblasts and reprogrammed induced pluripotent stem cells.
- Published in:
- Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02293-3
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- Publication type:
- Article
Genotype-free demultiplexing of pooled single-cell RNA-seq.
- Published in:
- Genome Biology, 2019, v. 20, n. 1, p. 1, doi. 10.1186/s13059-019-1852-7
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- Publication type:
- Article
Approach for in vivo delivery of CRISPR/Cas system: a recent update and future prospect.
- Published in:
- Cellular & Molecular Life Sciences, 2021, v. 78, n. 6, p. 2683, doi. 10.1007/s00018-020-03725-2
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- Publication type:
- Article
Assessing the Genetic Predisposition of Education on Myopia: A Mendelian Randomization Study.
- Published in:
- Genetic Epidemiology, 2016, v. 40, n. 1, p. 66, doi. 10.1002/gepi.21936
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- Publication type:
- Article
Research: Keep PubMed running at all costs.
- Published in:
- Nature, 2013, v. 502, n. 7471, p. 303, doi. 10.1038/502303e
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- Publication type:
- Article
AAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12210-8
- By:
- Publication type:
- Article
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-020-20851-4
- By:
- Publication type:
- Article
Genetic risk of glaucoma is associated with vascular and retinal nerve fibre wedge defects.
- Published in:
- Acta Ophthalmologica (1755375X), 2024, v. 102, n. 2, p. e185, doi. 10.1111/aos.15775
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- Publication type:
- Article