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Investigation of the prevalence of the myocilin Q368STOP mutation inUgandan glaucoma patients.
- Published in:
- Ophthalmic Genetics, 2002, v. 23, n. 1, p. 067, doi. 10.1076/opge.23.1.67.2204
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- Publication type:
- Article
Laboratory methods in ophthalmic genetics: obtaining DNA from patients.
- Published in:
- Ophthalmic Genetics, 2001, v. 22, n. 1, p. 49, doi. 10.1076/opge.22.1.49.2240
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- Publication type:
- Article
Normal range of hearing associated with myocilin Thr377Met.
- Published in:
- Ophthalmic Genetics, 1999, v. 20, n. 3, p. 205, doi. 10.1076/opge.20.3.205.2279
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- Publication type:
- Article
In Utero Exposure to Smoking and Alcohol, and Passive Smoking during Childhood: Effect on the Retinal Nerve Fibre Layer in Young Adulthood.
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- Ophthalmic Epidemiology, 2022, v. 29, n. 5, p. 507, doi. 10.1080/09286586.2021.1968005
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- Publication type:
- Article
Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature.
- Published in:
- Ophthalmic Genetics, 2020, v. 41, n. 4, p. 368, doi. 10.1080/13816810.2020.1776335
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- Publication type:
- Article
Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation.
- Published in:
- Ophthalmic Genetics, 2019, v. 40, n. 1, p. 12, doi. 10.1080/13816810.2018.1561904
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- Publication type:
- Article
DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma.
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- Ophthalmic Genetics, 2018, v. 39, n. 2, p. 221, doi. 10.1080/13816810.2017.1413659
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- Publication type:
- Article
Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.
- Published in:
- Ophthalmic Genetics, 2017, v. 38, n. 2, p. 171, doi. 10.3109/13816810.2016.1164195
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- Publication type:
- Article
No Maternally Inherited Diabetes and Deafness Mutations in a Sample of 193 Tasmanian Diabetics with Glaucoma.
- Published in:
- Ophthalmic Genetics, 2007, v. 28, n. 1, p. 39, doi. 10.1080/13816810701201971
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- Publication type:
- Article
Familial Transmission Risk of Infantile Glaucoma in Australia.
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- Ophthalmic Genetics, 2006, v. 27, n. 3, p. 93, doi. 10.1080/13816810600870843
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- Publication type:
- Article
Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ Monosomy 9p23-Pter.
- Published in:
- Ophthalmic Genetics, 2005, v. 26, n. 1, p. 45, doi. 10.1080/13816810590918398
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- Publication type:
- Article
Impact of polygeNic risk score for glaucoma on psycHosocial ouTcomes (INSiGHT) study protocol.
- Published in:
- PLoS ONE, 2024, v. 19, n. 12, p. 1, doi. 10.1371/journal.pone.0312390
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- Publication type:
- Article
Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma.
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- Clinical & Experimental Ophthalmology, 2024, v. 52, n. 9, p. 957, doi. 10.1111/ceo.14438
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- Publication type:
- 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
A novel GSN variant outside the G2 calcium‐binding domain associated with Amyloidosis of the Finnish type.
- Published in:
- Human Mutation, 2021, v. 42, n. 7, p. 818, doi. 10.1002/humu.24214
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- Publication type:
- Article
Identification of a Novel Oligomerization Disrupting Mutation in CRYΑA Associated with Congenital Cataract in a South Australian Family.
- Published in:
- Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260
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- Publication type:
- Article
Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract.
- Published in:
- Human Mutation, 2009, v. 30, n. 5, p. E603, doi. 10.1002/humu.20995
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- Publication type:
- Article
Myocilin allele-specific glaucoma phenotype database.
- Published in:
- 2008
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- Publication type:
- Other
A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 742, doi. 10.1002/humu.9501
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- Publication type:
- Article
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
Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample.
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- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37388-8
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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
Working Towards Eye Health Equity for Indigenous Australians with Diabetes.
- Published in:
- International Journal of Environmental Research & Public Health, 2019, v. 16, n. 24, p. 5060, doi. 10.3390/ijerph16245060
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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
Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance.
- Published in:
- PLoS ONE, 2018, v. 13, n. 12, p. 1, doi. 10.1371/journal.pone.0206684
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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
Myelodysplastic syndrome with karyotype abnormality is associated with elevated F-cell production.
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- British Journal of Haematology, 1996, v. 93, n. 3, p. 601, doi. 10.1046/j.1365-2141.1996.d01-1682.x
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- Publication type:
- Article
Molecular characterization of a novel 10.3 kb deletion causing β-thalassaemia with unusually high Hb A<sub>2</sub>.
- Published in:
- British Journal of Haematology, 1992, v. 82, n. 4, p. 735, doi. 10.1111/j.1365-2141.1992.tb06952.x
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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
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
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
Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy.
- Published in:
- 2018
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- Publication type:
- Abstract
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
Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene.
- Published in:
- Human Mutation, 2002, v. 20, n. 4, p. 322, doi. 10.1002/humu.9066
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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.
- Published in:
- Molecular Human Reproduction, 1999, v. 5, n. 11, p. 1089, doi. 10.1093/molehr/5.11.1089
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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
Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study.
- Published in:
- 2017
- By:
- 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
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
- By:
- Publication type:
- Case Study
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
- Published in:
- BMC Medical Genetics, 2010, v. 11, p. 165, doi. 10.1186/1471-2350-11-165
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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
A modified technique for intraluminal stenting of glaucoma drainage devices: The guide-wire technique.
- Published in:
- 2020
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- Publication type:
- journal article