Found: 34
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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 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
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
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
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
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
Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma.
- Published in:
- 2019
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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
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
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.
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- Molecular Vision, 2019, v. 25, p. 527
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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
Angiopoietin-1 is required for Schlemm's canal development in mice and humans.
- Published in:
- 2017
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- Publication type:
- journal article
Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity.
- Published in:
- 2016
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- Publication type:
- journal article
Childhood glaucoma: Implications for genetic counselling.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 5, p. 545, doi. 10.1111/cge.14603
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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
Genetic Risk Assessment of Degenerative Eye Disease (GRADE): study protocol of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.
- Published in:
- BMC Ophthalmology, 2023, v. 23, n. 1, p. 1, doi. 10.1186/s12886-023-03143-5
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- Publication type:
- Article
Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 8, p. N.PAG, doi. 10.1002/mgg3.774
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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
Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis.
- Published in:
- 2018
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- Publication type:
- Case Study
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
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
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.
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- Human Mutation, 2013, v. 34, n. 3, p. 435, doi. 10.1002/humu.22260
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- Publication type:
- Article
An Assessment of GUCA1C Variants in Primary Congenital Glaucoma.
- Published in:
- 2021
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- Publication type:
- Letter
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
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