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Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family.
- Published in:
- Ophthalmologica, 2006, v. 220, n. 1, p. 23, doi. 10.1159/000089271
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- Publication type:
- Article
Analysis of five Duchenne muscular dystrophy exons and gender determination using conventional duplex polymerase chain reaction on single cells.
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- Molecular Human Reproduction, 1999, v. 5, n. 11, p. 1089, doi. 10.1093/molehr/5.11.1089
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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
Porous Silicon Films Micropatterned with Bioelements as Supports for Mammalian Cells.
- Published in:
- Advanced Functional Materials, 2012, v. 22, n. 6, p. 1158, doi. 10.1002/adfm.201102000
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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
Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.
- Published in:
- BMC Research Notes, 2016, v. 9, p. 1, doi. 10.1186/s13104-016-1890-0
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- Publication type:
- Article
Gene‐specific facial dysmorphism in Axenfeld‐Rieger syndrome caused by FOXC1 and PITX2 variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 434, doi. 10.1002/ajmg.a.61982
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- Publication type:
- Article
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
- Published in:
- Nature Genetics, 2015, v. 47, n. 9, p. 987, doi. 10.1038/ng.3373
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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
Risk Factors for Graves' Orbitopathy; the Australian Thyroid-Associated Orbitopathy Research (ATOR) Study.
- Published in:
- 2016
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- Publication type:
- journal 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
Exome-based investigation of the genetic basis of human pigmentary glaucoma.
- Published in:
- BMC Genomics, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s12864-021-07782-0
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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
DNA methylation landscape of ocular tissue relative to matched peripheral blood.
- Published in:
- Scientific Reports, 2017, p. 46330, doi. 10.1038/srep46330
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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
Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 10, p. 1, doi. 10.1371/journal.pone.0140919
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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
The p53 Codon 72 PRO/PRO Genotype May Be Associated with Initial Central Visual Field Defects in Caucasians with Primary Open Angle Glaucoma.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045613
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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
Neuroimaging Findings in Axenfeld-Rieger Syndrome: A Case Series.
- Published in:
- American Journal of Neuroradiology, 2023, v. 44, n. 10, p. 1231, doi. 10.3174/ajnr.A7995
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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
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
Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin.
- Published in:
- Human Genetics, 2003, v. 112, n. 2, p. 110, doi. 10.1007/s00439-002-0865-5
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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
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
Association of High Polygenic Risk With Visual Field Worsening Despite Treatment in Early Primary Open-Angle Glaucoma.
- Published in:
- 2023
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- Publication type:
- journal article
Association of Monogenic and Polygenic Risk With the Prevalence of Open-Angle Glaucoma.
- Published in:
- 2021
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- Publication type:
- journal article
Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study.
- Published in:
- 2020
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- Publication type:
- journal article
Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies.
- Published in:
- 2019
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- Publication type:
- journal article
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
- Published in:
- 2015
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- Publication type:
- journal article
Does the Association Between TMEM98 and Nanophthalmos Require Further Confirmation?-Reply.
- Published in:
- 2015
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- 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
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
Gene Set Enrichment Analsyes Identify Pathways Involved in Genetic Risk for Diabetic Retinopathy.
- Published in:
- 2021
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- Publication type:
- journal article
Promoter polymorphism at the tumour necrosis factor/lymphotoxin-alpha locus is associated with type of diabetes but not with susceptibility to sight-threatening diabetic retinopathy.
- Published in:
- Diabetes & Vascular Disease Research, 2016, v. 13, n. 2, p. 164, doi. 10.1177/1479164115616902
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- Publication type:
- Article
The phenotypic spectrum of ADAMTSL4-associated ectopia lentis: Additional cases, complications, and review of literature.
- Published in:
- Molecular Vision, 2022, v. 28, p. 257
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- Publication type:
- Article
Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF.
- Published in:
- Molecular Vision, 2019, v. 25, p. 527
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- Publication type:
- Article
Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant.
- Published in:
- Molecular Vision, 2019, v. 25, p. 174
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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
- By:
- Publication type:
- Article
The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.
- Published in:
- 2013
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- Publication type:
- journal article
The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.
- Published in:
- Medical Journal of Australia, 2013, v. 198, n. 2, p. 93, doi. 10.5694/mja12.10607
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- Publication type:
- Article
Bilateral simultaneous acute angle closure glaucoma precipitated by non-prescription cold and flu medication.
- Published in:
- 2010
- By:
- Publication type:
- Case Study