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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
Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.
- Published in:
- PLoS ONE, 2018, v. 13, n. 6, p. 1, doi. 10.1371/journal.pone.0199178
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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
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- Publication type:
- Article
ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 9, p. 2689, doi. 10.1093/hmg/ddv027
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- Publication type:
- Article
Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 5, p. 710
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- Publication type:
- Article
Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.
- Published in:
- Nature Communications, 2017, v. 8, n. 3, p. 14898, doi. 10.1038/ncomms14898
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- Publication type:
- Article
Novel plasma and brain proteins that are implicated in multiple sclerosis.
- Published in:
- 2023
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- Publication type:
- journal article
A Systematic Meta-Analysis of Genetic Association Studies for Diabetic Retinopathy.
- Published in:
- Diabetes, 2009, v. 58, n. 9, p. 2137, doi. 10.2337/db09-0059
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- Publication type:
- Article
Association of Protein Tyrosine Phosphatase-N1 Polymorphisms With Coronary Calcified Plaque in the Diabetes Heart Study.
- Published in:
- Diabetes, 2006, v. 55, n. 3, p. 651, doi. 10.2337/diabetes.55.03.06.db05-0058
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- Publication type:
- Article
Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 7, p. 4042, doi. 10.3390/ijms23074042
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- Publication type:
- Article
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
- Published in:
- 2018
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- Publication type:
- Abstract
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
- Published in:
- BMC Medical Genetics, 2017, v. 18, p. 1, doi. 10.1186/s12881-017-0414-7
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- Publication type:
- Article
A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.
- Published in:
- 2016
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- Publication type:
- Case Study
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
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
Acquired copy number variation in prostate tumours: a review of common somatic copy number alterations, how they are formed and their clinical utility.
- Published in:
- British Journal of Cancer, 2024, v. 130, n. 3, p. 347, doi. 10.1038/s41416-023-02485-7
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- Publication type:
- Article
Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 689, doi. 10.1038/ng0615-689c
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- Publication type:
- Article
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.
- Published in:
- Nature Genetics, 2015, v. 47, n. 4, p. 387, doi. 10.1038/ng.3226
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- Publication type:
- Article
Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2014, v. 46, n. 10, p. 1120, doi. 10.1038/ng.3079
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- Publication type:
- Article
Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 155, doi. 10.1038/ng.2506
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- Publication type:
- Article
Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1.
- Published in:
- Nature Genetics, 2011, v. 43, n. 6, p. 574, doi. 10.1038/ng.824
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- Publication type:
- Article
Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
- Published in:
- Nature Genetics, 2010, v. 42, n. 10, p. 906, doi. 10.1038/ng.661
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- Publication type:
- Article
Pooled genome wide association detects association upstream of FCRL3 with Graves' disease.
- Published in:
- BMC Genomics, 2016, v. 17, p. 1, doi. 10.1186/s12864-016-3276-z
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- Publication type:
- Article
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.
- Published in:
- Molecular Vision, 2018, v. 24, p. 261
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- Publication type:
- Article
EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS.
- Published in:
- Molecular Vision, 2016, v. 22, p. 1
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- Publication type:
- Article
Common Genetic Variants near the Brittle Cornea Syndrome Locus ZNF469 Influence the Blinding Disease Risk Factor Central Corneal Thickness.
- Published in:
- PLoS Genetics, 2010, v. 6, n. 5, p. 1, doi. 10.1371/journal.pgen.1000947
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- Publication type:
- Article
Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.
- Published in:
- Communications Biology, 2023, v. 6, n. 1, p. 1, doi. 10.1038/s42003-022-04323-7
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- Publication type:
- Article
The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort.
- Published in:
- Clinical Genetics, 2020, v. 97, n. 5, p. 764, doi. 10.1111/cge.13722
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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
A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-58510-9
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- Publication type:
- Article
Ocular Expression and Distribution of Products of the POAG-Associated Chromosome 9p21 Gene Region.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075067
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- Publication type:
- Article
Mutations in the <i>EPHA2</i> Gene Are a Major Contributor to Inherited Cataracts in South-Eastern Australia.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072518
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- Publication type:
- Article
Association of Genetic Variants with Primary Angle Closure Glaucoma in Two Different Populations.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067903
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- Publication type:
- Article
Ethnic and Mouse Strain Differences in Central Corneal Thickness and Association with Pigmentation Phenotype.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022103
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- Publication type:
- Article
Sequence Variation in DDAH1 and DDAH2 Genes Is Strongly and Additively Associated with Serum ADMA Concentrations in Individuals with Type 2 Diabetes.
- Published in:
- PLoS ONE, 2010, v. 5, n. 3, p. 1, doi. 10.1371/journal.pone.0009462
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- Publication type:
- Article
Association of α2-Heremans-Schmid Glycoprotein Polymorphisms with Subclinical Atherosclerosis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 1, p. 345, doi. 10.1210/jc.2006-0429
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- Publication type:
- Article
Identifying Genetic Risk Factors for Diabetic Macular Edema and the Response to Treatment.
- Published in:
- Journal of Diabetes Research, 2020, p. 1, doi. 10.1155/2020/5016916
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- Publication type:
- Article
GWAS study using DNA pooling strategy identifies association of variant rs4910623 in OR52B4 gene with anti-VEGF treatment response in age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 37924, doi. 10.1038/srep37924
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- Publication type:
- Article
Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.
- Published in:
- Scientific Reports, 2016, p. 26885, doi. 10.1038/srep26885
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- Publication type:
- Article
Use of Corneal Biomechanical Measures as Endophenotypes for Understanding the Genetics of Keratoconus.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?-Reply.
- Published in:
- 2015
- By:
- Publication type:
- Journal Article
Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?
- Published in:
- JAMA Ophthalmology, 2015, v. 133, n. 3, p. 358, doi. 10.1001/jamaophthalmol.2014.4915
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- Publication type:
- Article
Mutation in TMEM98 in a Large White Kindred With Autosomal Dominant Nanophthalmos Linked to 17p12-q12.
- Published in:
- JAMA Ophthalmology, 2014, v. 132, n. 8, p. 970, doi. 10.1001/jamaophthalmol.2014.946
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- Publication type:
- Article
Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy.
- Published in:
- Clinical & Experimental Ophthalmology, 2019, v. 47, n. 8, p. 1028, doi. 10.1111/ceo.13569
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- Publication type:
- Article
Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non‐Indigenous Australians in South Australia and the Northern Territory.
- Published in:
- Clinical & Experimental Ophthalmology, 2018, v. 46, n. 4, p. 417, doi. 10.1111/ceo.13083
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- Publication type:
- Article
Role of direct-to-consumer genetic testing for complex disease in diagnostics and research.
- Published in:
- 2015
- By:
- Publication type:
- Editorial