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A Common Disease Haplotype for the Q368STOP Mutation of the Myocilin Gene in Australian and Canadian Glaucoma Families

artículo científico publicado en 2005

A Glaucoma Case-control Study of the WDR36 Gene D658G sequence variant

artículo científico publicado en 2006

A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

artículo científico publicado en 2015

A common variant near TGFBR3 is associated with primary open angle glaucoma.

artículo científico publicado en 2015

A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma.

artículo científico publicado en 2012

A genome-wide association study suggests new evidence for an association of the NADPH Oxidase 4 (NOX4) gene with severe diabetic retinopathy in type 2 diabetes

article

A large GLC1C Greek family with a myocilin T377M mutation: inheritance and phenotypic variability.

artículo científico publicado en 2006

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

artículo científico publicado en 2015

A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus

A myocilin Gln368STOP homozygote does not exhibit a more severe glaucoma phenotype than heterozygous cases

artículo científico publicado en 2006

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.

artículo científico publicado en 2016

A novel deletion in the FTL gene causes hereditary hyperferritinemia cataract syndrome (HHCS) by alteration of the transcription start site

artículo científico publicado en 2007

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an indigenous Australian family

artículo científico publicado en 2009

A novel locus for X-linked congenital cataract on Xq24.

artículo científico publicado en 2008

A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance

artículo científico publicado en 2004

A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.

artículo científico publicado en 2010

A polygenic risk score predicts intraocular pressure readings outside office hours and early morning spikes as measured by home tonometry

artículo científico publicado en 2020

A single-nucleotide polymorphism in the MicroRNA-146a gene is associated with diabetic nephropathy and sight-threatening diabetic retinopathy in Caucasian patients

article by Georgia Kaidonis et al published August 2016 in Acta Diabetologica

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

artículo científico publicado en 2001

A systematic meta-analysis of genetic association studies for diabetic retinopathy

artículo científico publicado en 2009

ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure

artículo científico publicado en 2015

Accuracy and implications of a reported family history of glaucoma: experience from the Glaucoma Inheritance Study in Tasmania

artículo científico publicado en 2000

Accurate Imputation-Based Screening of Gln368Ter Myocilin Variant in Primary Open-Angle Glaucoma

artículo científico publicado en 2015

Advances in telemetric continuous intraocular pressure assessment.

artículo científico publicado en 2009

Aetiology of congenital and paediatric cataract in an Australian population

artículo científico publicado en 2002

Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility. ⬇️

artículo científico publicado en 2010

An Interactive Multimedia Approach to Improving Informed Consent for Induced Pluripotent Stem Cell Research.

artículo científico publicado en 2016

An Intraocular Pressure Polygenic Risk Score Stratifies Multiple Primary Open-Angle Glaucoma Parameters Including Treatment Intensity

artículo científico publicado en 2020

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma

artículo científico publicado en 2018

Analysis of 15 primary open-angle glaucoma families from Australia identifies a founder effect for the Q368STOP mutation of myocilin

artículo científico publicado en 2002

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

artículo científico publicado en 1999

Analysis of optineurin (OPTN) gene mutations in subjects with and without glaucoma: the Blue Mountains Eye Study

artículo científico publicado en 2004

Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people

article

Angiopoietin receptor TEK mutations underlie primary congenital glaucoma with variable expressivity

artículo científico publicado en 2016

Angiopoietin-1 is required for Schlemm's canal development in mice and humans.

artículo científico publicado en 2017

Anterior segment optical coherence tomography in the investigation of an unusual case of entoptic phenomenon

artículo científico publicado en 2008

Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

artículo científico publicado en 2008

Assessment of polygenic effects links primary open-angle glaucoma and age-related macular degeneration.

artículo científico publicado en 2016

Association between erythropoietin gene polymorphisms and diabetic retinopathy

artículo científico publicado en 2010

Association of Genetic Variation With Keratoconus

artículo científico publicado en 2019

Association of Myopia and Intraocular Pressure With Retinal Detachment in European Descent Participants of the UK Biobank Cohort: A Mendelian Randomization Study

scientific article published on 30 April 2020

Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy

artículo científico publicado en 2016

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

artículo científico publicado en 2012

Association of Visual Impairment and All-Cause 10-Year Mortality Among Indigenous Australian Individuals Within Central Australia: The Central Australian Ocular Health Study.

artículo científico publicado en 2018

Association of disease-specific causes of visual impairment and 10-year mortality amongst Indigenous Australians: the Central Australian Ocular Health Study

artículo científico publicado en 2017

Association of eNOS polymorphisms with primary angle-closure glaucoma

artículo científico publicado en 2013

Association of genetic variants in the TMCO1 gene with clinical parameters related to glaucoma and characterization of the protein in the eye.

artículo científico publicado en 2012

Association of genetic variants with primary angle closure glaucoma in two different populations

artículo científico publicado en 2013

Association of open-angle glaucoma loci with incident glaucoma in the Blue Mountains Eye Study

artículo científico publicado en 2014

Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus

artículo científico publicado en 2011

Atomic force microscopy-based antibody recognition imaging of proteins in the pathological deposits in pseudoexfoliation syndrome

artículo científico publicado en 2011

Attitudes to predictive DNA testing for myocilin glaucoma: experience with a large Australian family

artículo científico publicado en 2004

Audible clicking on blinking: an adverse effect of topical prostaglandin analogue medication

scientific article published on 21 November 2016

Australian and New Zealand Registry of Advanced Glaucoma: methodology and recruitment

artículo científico publicado en 2012

Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

artículo científico

Author Response: Stronger Association of CDKN2B-AS1 Variants in Female Normal-Tension Glaucoma Patients in a Japanese Population.

artículo científico publicado en 2016

Automated volumetric evaluation of stereoscopic disc photography

artículo científico publicado en 2010

Autosomal Dominant Optic Atrophy: Penetrance and Expressivity in Patients With OPA1 Mutations

artículo científico publicado en 2007

Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF

scientific article published on 21 September 2019

Biallelic CPAMD8 Variants Are a Frequent Cause of Childhood and Juvenile Open-Angle Glaucoma

artículo científico publicado en 2020

Bilateral phototherapeutic keratectomy for corneal macular dystrophy in an adolescent: case report and review of the literature

artículo científico publicado en 2020

Bilateral simultaneous acute angle closure glaucoma precipitated by non-prescription cold and flu medication.

scientific article published on October 2010

Biological effect of LOXL1 coding variants associated with pseudoexfoliation syndrome.

artículo científico publicado en 2016

Broad phenotypic variability in a single pedigree with a novel 1410delC mutation in the PST domain of the PAX6 gene

artículo científico publicado en 2002

CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma

artículo científico publicado en 2015

Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness

artículo científico publicado en 2010

Cardiovascular Disease predicts structural and functional progression in early glaucoma

artículo científico publicado en 2020

Causes of Severe Visual Impairment and Blindness: Comparative Data From Bhutanese and Laotian Schools for the Blind.

artículo científico publicado en 2015

Central Australian Ocular Health Study: design and baseline description of participants.

artículo científico publicado en 2010

Central corneal thickness is highly heritable: the twin eye studies.

artículo científico publicado en 2005

Central corneal thickness of indigenous Australians within Central Australia

artículo científico publicado en 2006

Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter

artículo científico publicado en 2005

Chromosome 9p21 primary open-angle glaucoma susceptibility locus: a review.

artículo científico publicado en 2013

Classic features of multiple endocrine neoplasia type 2B

artículo científico publicado en 2007

Clinical comparison of the Icare tonometer and Goldmann applanation tonometry

artículo científico publicado en 2008

Common Sequence Variation in the VEGFC Gene Is Associated with Diabetic Retinopathy and Diabetic Macular Edema

article

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

artículo científico publicado en 2010

Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy

artículo científico publicado en 2009

Common variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma ⬇️

artículo científico publicado en 2014

Common variants near CAV1 and CAV2 are associated with primary open-angle glaucoma

artículo científico publicado en 2010

Complex genetics of complex traits: the case of primary open-angle glaucoma

artículo científico publicado en 2006

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma ⬇️

artículo científico publicado el 28 de diciembre de 2012

Confirmation of the Adult-Onset Primary Open Angle Glaucoma Locus GLC1B at 2cen-q13 in an Australian Family

article

Congenital hypertrophy of the retinal pigment epithelium (CHRPE) in familial colorectal cancer

artículo científico publicado en 2006

Contribution of Mutations in Known Mendelian Glaucoma Genes to Advanced Early-Onset Primary Open-Angle Glaucoma

artículo científico publicado en 2017

Copy number variations of TBK1 in Australian patients with primary open-angle glaucoma

artículo científico publicado en 2014

Corneal stiffness parameters are predictive of structural and functional progression in glaucoma suspects

artículo científico publicado en 2020

Corrigendum: a common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome

artículo científico publicado en 2015

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

artículo científico publicado en 2018

Crowd-sourced Ontology for Photoleukocoria: Identifying Common Internet Search Terms for a Potentially Important Pediatric Ophthalmic Sign

artículo científico publicado en 2018

DNA methylation at the 9p21 glaucoma susceptibility locus is associated with normal-tension glaucoma

artículo científico publicado en 2017

DNA methylation landscape of ocular tissue relative to matched peripheral blood

artículo científico publicado en 2017

Decompression retinopathy and corneal oedema following Nd:YAG laser peripheral iridotomy

artículo científico publicado en 2006

Delayed onset panuveitis following intravitreal aflibercept injection.

artículo científico publicado en 2014

Deletion of the OPA1 gene in a dominant optic atrophy family: evidence that haploinsufficiency is the cause of disease

artículo científico publicado en 2002

Detecting protein aggregates on untreated human tissue samples by atomic force microscopy recognition imaging

artículo científico publicado en 2010

Determination of retinal nerve fibre layer (RNFL) and ganglion cell/inner plexiform layers progression rates using two optical coherence tomography systems - the PROGRESSA study

artículo científico publicado en 2020

Determining Possible Shared Genetic Architecture Between Myopia and Primary Open-Angle Glaucoma

scientific article published on 01 July 2019

Diabetic macular oedema: clinical risk factors and emerging genetic influences.

artículo científico publicado en 2017

Diabetic retinopathy is associated with elevated serum asymmetric and symmetric dimethylarginines

artículo científico publicado en 2009

Differential Gene Expression Profiling of Orbital Adipose Tissue in Thyroid Orbitopathy

artículo científico publicado en 2015

Disease severity of familial glaucoma compared with sporadic glaucoma

artículo científico publicado en 2006

Distribution and associations of intraocular pressure in indigenous Australians within central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2011

Does the Association BetweenTMEM98and Nanophthalmos Require Further Confirmation?—Reply

artículo científico publicado en 2015

EPHA2 MUTATIONS CONTRIBUTE TO CONGENITAL CATARACT THROUGH DIVERSE MECHANISMS

artículo científico publicado en 2016

Effect of phacoemulsification cataract surgery on intraocular pressure in early glaucoma: A prospective multi-site study

artículo científico publicado en 2020

Efficient capture of high-quality real-world data on treatments for glaucoma: the Fight Glaucoma Blindness! Registry

artículo científico publicado en 2021

Elevation of serum asymmetrical and symmetrical dimethylarginine in patients with advanced glaucoma

artículo científico publicado en 2012

Epha2 genotype influences ultraviolet radiation induced cataract in mice

scientific article published on 17 September 2019

Erratum. Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. Diabetes 2019;68:441-456

scientific article published on 27 April 2020

Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

article

Ethical Considerations for the Return of Incidental Findings in Ophthalmic Genomic Research

artículo científico publicado en 2016

Ethnic and mouse strain differences in central corneal thickness and association with pigmentation phenotype

artículo científico publicado en 2011

Evaluation of Shared Genetic Susceptibility to High and Low Myopia and Hyperopia

Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma

artículo científico publicado en 2003

Evidence for a novel glaucoma locus at chromosome 3p21-22

article

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

artículo científico publicado en 2001

Familial Transmission Risk of Infantile Glaucoma in Australia

article

Ferritin light chain gene mutation in a large Australian family with hereditary hyperferritinemia-cataract syndrome.

artículo científico publicado en 2016

Functional and structural implications of the complement factor H Y402H polymorphism associated with age-related macular degeneration

artículo científico publicado en 2008

Gene-specific facial dysmorphism in Axenfeld-Rieger syndrome caused by FOXC1 and PITX2 variants

artículo científico publicado en 2020

Genetic Association at the 9p21 Glaucoma Locus Contributes to Sex Bias in Normal-Tension Glaucoma

artículo científico publicado en 2016

Genetic analysis of the clusterin gene in pseudoexfoliation syndrome

artículo científico publicado en 2008

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

artículo científico publicado en 2017

Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis

artículo científico publicado en 2015

Genetic dissection of myopia: evidence for linkage of ocular axial length to chromosome 5q.

artículo científico publicado en 2007

Genetic investigation into the endophenotypic status of central corneal thickness and optic disc parameters in relation to open-angle glaucoma.

artículo científico publicado en 2012

Genetic study of diabetic retinopathy: recruitment methodology and analysis of baseline characteristics.

artículo científico publicado en 2013

Genetic variation affects morphological retinal phenotypes extracted from UK Biobank optical coherence tomography images

Genetically Determined Plasma Lipid Levels and Risk of Diabetic Retinopathy: A Mendelian Randomization Study

artículo científico publicado en 2017

Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma

artículo científico publicado en 2014

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

artículo científico publicado en 2013

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma

artículo científico publicado en 2016

Genome-wide association analysis of 95 549 individuals identifies novel loci and genes influencing optic disc morphology

scientific article published on 01 November 2019

Genome-wide association identifies ATOH7 as a major gene determining human optic disc size

artículo científico publicado en 2010

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

artículo científico publicado en 2020

Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error

artículo científico publicado en 2018

Genome-wide association studies for diabetic macular edema and proliferative diabetic retinopathy

artículo científico publicado en 2018

Genome-wide association study for sight-threatening diabetic retinopathy reveals association with genetic variation near the GRB2 gene

artículo científico publicado en 2015

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma

artículo científico publicado en 2016

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma

artículo científico publicado en 2018

Genome-wide association study identifies susceptibility loci for open angle glaucoma at TMCO1 and CDKN2B-AS1

article

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy.

artículo científico publicado en 2017

Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma

scientific article published on 27 July 2018

Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

artículo científico publicado en 2013

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma ⬇️

artículo científico publicado en 2015

Glaucoma Drainage Device Technique in a Cohort of Experienced Glaucoma Surgeons in Australia and New Zealand

artículo científico publicado en 2020

Glaucoma in indigenous Australians

scientific article published on 26 July 2011

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation

artículo científico publicado en 2003

Glaucoma risk alleles at CDKN2B-AS1 are associated with lower intraocular pressure, normal-tension glaucoma, and advanced glaucoma

artículo científico publicado en 2012

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

artículo científico publicado en 2017

Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants

artículo científico publicado en 2017

Hereditary Hyperferritinemia-Cataract Syndrome

scientific article published on 01 December 2003

Heritability of Central Corneal Thickness in Nuclear Families

article

Heritable features of the optic disc: a novel twin method for determining genetic significance

artículo científico publicado en 2007

High-Throughput Genetic Screening of 51 Pediatric Cataract Genes Identifies Causative Mutations in Inherited Pediatric Cataract in South Eastern Australia

artículo científico publicado en 2017

Higher Prevalence of Myocilin Mutations in Advanced Glaucoma in Comparison with Less Advanced Disease in an Australasian Disease Registry

artículo científico publicado en 2013

Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma

artículo científico publicado en 2011

How significant is a family history of glaucoma? Experience from the Glaucoma Inheritance Study in Tasmania

artículo científico publicado en 2007

Hypomethylation of the IL17RC promoter in peripheral blood leukocytes is not a hallmark of age-related macular degeneration

artículo científico publicado en 2013

Ibopamine challenge test can be used to differentiate glaucoma suspects from glaucoma patients

artículo científico publicado en 2013

Ibopamine challenge testing becomes negative following successful trabeculectomy surgery

artículo científico publicado en 2016

Ibopamine challenge testing differentiates glaucoma suspect, stable glaucoma and progressive glaucoma cases

artículo científico publicado en 2015

Identification of LOXL1 protein and Apolipoprotein E as components of surgically isolated pseudoexfoliation material by direct mass spectrometry

artículo científico publicado en 2009

Identification of a novel MYOC mutation, p.(Trp373*), in a family with open angle glaucoma

article

Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.

artículo científico publicado en 2013

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka

scientific article published on 16 May 2018

Identifying content for the glaucoma-specific item bank to measure quality-of-life parameters

artículo científico publicado en 2015

Idiopathic sclerochoroidal calcification in a 79-year-old woman

artículo científico publicado en 2006

Immunochemical estimation of haemoglobin types in red blood cells by FACS analysis ⬇️

artículo científico publicado el 1 de mayo de 1994

Incidence of diabetic retinopathy in indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2011

Incidence of visual impairment and blindness in indigenous Australians within Central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2012

Incidence of visual impairment due to cataract, diabetic retinopathy and trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2012

Intravitreal triamcinolone-induced elevated intraocular pressure is associated with the development of posterior subcapsular cataract

artículo científico publicado en 2005

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations

artículo científico publicado en 2004

Investigation of crystallin genes in familial cataract, and report of two disease associated mutations.

artículo científico publicado en 2004

Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.

artículo científico publicado en 2008

Investigation of the prevalence of the myocilin Q368STOP mutation in Ugandan glaucoma patients

artículo científico publicado en 2002

Lack of association of p53 polymorphisms and haplotypes in high and normal tension open angle glaucoma

artículo científico publicado en 2005

Linkage to 10q22 for maximum intraocular pressure and 1p32 for maximum cup-to-disc ratio in an extended primary open-angle glaucoma pedigree

artículo científico publicado en 2005

Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: A population-based audit-Response

scientific article published on 21 May 2019

Long-term survival rates of patients undergoing vitrectomy for diabetic retinopathy in an Australian population: a population-based audit

scientific article published on 20 February 2019

Loss of ciliary zonule protein hydroxylation and lens stability as a predicted consequence of biallelic ASPH variation

scientific article published on 02 January 2019

MALDI MS imaging analysis of apolipoprotein E and lysyl oxidase-like 1 in human lens capsules affected by pseudoexfoliation syndrome.

artículo científico publicado en 2013

MALDI-MS-imaging of whole human lens capsule.

artículo científico publicado en 2011

Macular Ganglion Cell–Inner Plexiform Layer Loss Precedes Peripapillary Retinal Nerve Fiber Layer Loss in Glaucoma with Lower Intraocular Pressure

artículo científico publicado en 2019

Maternal uniparental isodisomy of chromosome 6 unmasks a novel variant in in a patient with early onset retinal dystrophy

Matrix metalloproteinase-9 genetic variation and primary angle closure glaucoma in a Caucasian population

artículo científico publicado en 2011

Measurement of Systemic Mitochondrial Function in Advanced Primary Open-Angle Glaucoma and Leber Hereditary Optic Neuropathy

artículo científico publicado en 2015

Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology

artículo científico publicado en 2015

Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error

artículo científico publicado en 2016

Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

artículo científico publicado en 2014

MicroRNA-Related Genetic Variants Are Associated With Diabetic Retinopathy in Type 1 Diabetes Mellitus

artículo científico publicado en 2019

Mitochondrial haplogroups are not associated with diabetic retinopathy in a large Australian and British Caucasian sample

artículo científico publicado en 2019

Molecular characterization of a novel 10.3 kb deletion causing beta-thalassaemia with unusually high Hb A2

artículo científico publicado el 1 de diciembre de 1992

Mortality in primary open-angle glaucoma: 'two cupped discs and a funeral'.

artículo científico publicado en 2009

Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control

scientific article published on 28 November 2018

Multitrait analysis of glaucoma identifies new risk loci and enables polygenic prediction of disease susceptibility and progression

artículo científico publicado en 2020

Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12.

artículo científico publicado en 2014

Mutation spectrum in Australian pedigrees with hereditary hyperferritinaemia-cataract syndrome reveals novel and de novo mutations

artículo científico publicado en 2002

Mutational analysis of MIR184 in sporadic keratoconus and myopia

artículo científico publicado en 2013

Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

artículo científico publicado en 2004

Mutations in TSPAN12 Cause Autosomal-Dominant Familial Exudative Vitreoretinopathy

artículo científico publicado en 2016

Mutations in TSPAN12 cause autosomal-dominant familial exudative vitreoretinopathy

artículo científico publicado en 2010

Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation.

artículo científico publicado en 2003

Mutations in the EPHA2 gene are a major contributor to inherited cataracts in South-Eastern Australia

artículo científico publicado en 2013

Mutations in the NDP gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematurity

artículo científico publicado en 2006

Mutations of the EPHA2 receptor tyrosine kinase gene cause autosomal dominant congenital cataract

artículo científico publicado en 2009

Myocilin Gene Gln368Ter Variant Penetrance and Association With Glaucoma in Population-Based and Registry-Based Studies

article

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals

artículo científico publicado en 2007

Myocilin Predictive Genetic Testing for Primary Open-Angle Glaucoma Leads to Early Identification of At-Risk Individuals

artículo científico publicado en 2016

Myocilin allele-specific glaucoma phenotype database

artículo científico publicado en 2008

NHS-A isoform of the NHS gene is a novel interactor of ZO-1.

artículo científico publicado en 2009

Nail-patella syndrome and its association with glaucoma: a review of eight families

artículo científico publicado en 2006

Nance-Horan syndrome protein, NHS, associates with epithelial cell junctions

artículo científico publicado en 2006

New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics

artículo científico publicado en 2017

Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error

artículo científico publicado en 2013

No maternally inherited diabetes and deafness mutations in a sample of 193 Tasmanian diabetics with glaucoma.

artículo científico publicado en 2007

Non-Synonymous variants in premelanosome protein (PMEL) cause ocular pigment dispersion and pigmentary glaucoma

artículo científico publicado en 2019

Novel causative mutations in patients with Nance-Horan syndrome and altered localization of the mutant NHS-A protein isoform

artículo científico publicado en 2008

Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).

artículo científico publicado en 2017

Novel protein constituents of pathological ocular pseudoexfoliation syndrome deposits identified with mass spectrometry

scientific article published on 28 December 2018

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes

article

Null mutations in LTBP2 cause primary congenital glaucoma

artículo científico publicado en 2009

Objective monitoring of papilloedema using confocal scanning laser ophthalmoscopy

artículo científico publicado en 2007

Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss

artículo científico publicado en 2015

Ocular expression and distribution of products of the POAG-associated chromosome 9p21 gene region

scientific journal article

Optic nerve head parameters of an indigenous population living within Central Australia

artículo científico publicado en 2006

PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia

artículo científico publicado en 2018

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract.

artículo científico publicado en 2017

Pathogenesis of thyroid eye disease: review and update on molecular mechanisms.

artículo científico publicado en 2015

Pericytes, inflammation, and diabetic retinopathy

artículo científico publicado en 2019

Pooled genome wide association detects association upstream of FCRL3 with Graves' disease

artículo científico publicado en 2016

Predictive DNA testing for glaucoma: reality in 2003.

artículo científico publicado en 2003

Predictive genetic testing experience for myocilin primary open-angle glaucoma using the Australian and New Zealand Registry of Advanced Glaucoma.

artículo científico publicado en 2014

Predictive genetic testing in minors for Myocilin juvenile onset open angle glaucoma

artículo científico publicado en 2015

Presence of diabetic retinopathy is associated with worse 10-year mortality among Indigenous Australians in Central Australia: The Central Australian ocular health study

scientific article published on 14 November 2018

Prevalence and associations of blinding trachoma in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2010

Prevalence and associations of cataract in indigenous Australians within central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2010

Prevalence and associations of diabetic retinopathy in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2010

Prevalence and associations of refractive error in indigenous Australians within central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2010

Prevalence and type of artefact with spectral domain optical coherence tomography macular ganglion cell imaging in glaucoma surveillance

artículo científico publicado en 2018

Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma

artículo científico publicado en 2007

Prevalence of FOXC1 Variants in Individuals With a Suspected Diagnosis of Primary Congenital Glaucoma

Prevalence of pseudoexfoliation syndrome in indigenous Australians within central Australia: The Central Australian Ocular Health Study.

artículo científico publicado en 2011

Prevalence of pterygium in indigenous Australians within central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2011

Prevalence of uveitis in indigenous populations presenting to remote clinics of central Australia: the Central Australian Ocular Health Study

artículo científico publicado en 2011

Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion

artículo científico publicado en 2019

Primary infantile glaucoma in an Australian population

artículo científico publicado en 2004

Primary open angle glaucoma in subjects harbouring the predicted GLC1L haplotype reveals a normotensive phenotype

artículo científico publicado en 2009

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

article

Quantitative genetic analysis of the retinal vascular caliber: the Australian Twins Eye Study.

artículo científico publicado en 2009

RNA Sequencing of Lens Capsular Epithelium Implicates Novel Pathways in Pseudoexfoliation Syndrome

artículo científico publicado en 2022

Rapid inexpensive genome-wide association using pooled whole blood

artículo científico publicado en 2009

Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

artículo científico publicado en 2016

Rare, Potentially Pathogenic Variants in ZNF469 Are Not Enriched in Keratoconus in a Large Australian Cohort of European Descent.

artículo científico publicado en 2017

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent

artículo científico publicado en 2018

Rationale, methods and baseline demographics of the Bhaktapur Glaucoma Study.

artículo científico publicado en 2010

Recurrent atypical fibroxanthoma of the limbus

artículo científico publicado en 2013

Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.

artículo científico publicado en 2016

Reduced expression of apolipoprotein E and immunoglobulin heavy constant gamma 1 proteins in Fuchs endothelial corneal dystrophy

artículo científico publicado en 2019

Relationship between DDAH gene variants and serum ADMA level in individuals with type 1 diabetes.

artículo científico publicado en 2012

Replication and meta-analysis of candidate loci identified variation at RAB3GAP1 associated with keratoconus

artículo científico publicado en 2013

Retinopathy of prematurity: recent advances in our understanding

artículo científico publicado en 2002

Retinopathy of prematurity: recent advances in our understanding.

artículo científico publicado en 2002

Review of the prevalence of diabetic retinopathy in Indigenous Australians

artículo científico

Risk Factors for Graves' Orbitopathy; the Australian Thyroid-Associated Orbitopathy Research (ATOR) Study.

artículo científico publicado en 2016

Role of the nucleolus in neurodegenerative diseases with particular reference to the retina: a review.

artículo científico publicado en 2015

SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma

scientific article published on 01 October 2020

Screening for glaucomatous disc changes prior to diagnosis of glaucoma in myocilin pedigrees

artículo científico publicado en 2007

Screening of CRISPR/Cas base editors to target the AMD high-risk Y402H complement factor H variant

artículo científico publicado en 2019

Screening of the COL8A2 gene in an Australian family with early-onset Fuchs' endothelial corneal dystrophy.

artículo científico publicado en 2013

Screening phenotypically normal Caucasian Australians for the lysyl oxidase-like 1 gene

artículo científico publicado en 2014

Secondary stenting of glaucoma drainage implant: a novel technique for treatment of late hypotony.

artículo científico publicado en 2016

Seeing the impact of the Glaucoma Inheritance Study in Tasmania after 25 years

artículo científico publicado en 2018

Sensitivity of confocal laser tomography versus optical coherence tomography in detecting advanced glaucoma

artículo científico publicado en 2009

Sequence variation in DDAH1 and DDAH2 genes is strongly and additively associated with serum ADMA concentrations in individuals with type 2 diabetes

artículo científico publicado en 2010

Serum selenium status in Graves’ disease with and without orbitopathy: a case-control study

artículo científico publicado en 2014

Severe intraocular pressure response to periocular or intravitreal steroid treatment in Australia and New Zealand: data from the Australian and New Zealand Ophthalmic Surveillance Unit.

artículo científico publicado en 2014

Simultaneous presentation of hereditary hyperferritinaemia cataract syndrome and hereditary haemochromatosis

artículo científico publicado en 2018

Single Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media

Single Dose of Pseudoephedrine Induces Simultaneous Bilateral Acute Angle Closure Crisis

artículo científico publicado en 2019

Single-Cell Profiling Identifies Key Pathways Expressed by iPSCs Cultured in Different Commercial Media

artículo científico publicado en 2018

Spectrum and frequency of FZD4 mutations in familial exudative vitreoretinopathy

artículo científico publicado en 2004

Spectrum, frequency and penetrance of OPA1 mutations in dominant optic atrophy

artículo científico publicado en 2001

Spontaneously resolved infantile glaucoma

artículo científico publicado en 2014

Systemic disease associations of familial and sporadic glaucoma: the Glaucoma Inheritance Study in Tasmania.

artículo científico publicado en 2009

T-Cell Large Granular Lymphocyte Leukemia in the Lower Eyelid

artículo científico publicado en 2016

TGC repeat expansion in the TCF4 gene increases the risk of Fuchs' endothelial corneal dystrophy in Australian cases.

artículo científico publicado en 2017

Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma.

artículo científico publicado en 2010

Ten-year all-cause mortality and its association with vision among Indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2016

Ten-year all-cause mortality and its association with vision among Indigenous Australians within central Australia: methodological issues - response

artículo científico publicado en 2017

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets

artículo científico publicado en 2018

The PITX3 gene in posterior polar congenital cataract in Australia

artículo científico publicado en 2006

The Q368STOP myocilin mutation in a population-based cohort: the Blue Mountains Eye Study

artículo científico publicado en 2005

The Taa1 restriction enzyme provides a simple means to identify the Q368STOP mutation of the myocilin gene in primary open angle glaucoma

artículo científico publicado en 2001

The apolipoprotein epsilon4 gene is associated with elevated risk of normal tension glaucoma.

artículo científico publicado en 2002

The association of hepatocyte growth factor (HGF) gene with primary angle closure glaucoma in the Nepalese population.

artículo científico publicado en 2011

The genetic and clinical landscape of nanophthalmos and posterior microphthalmos in an Australian cohort

artículo científico publicado en 2020

The genetic and clinical landscape of nanophthalmos in an Australian cohort

artículo científico publicado en 2019

The genetics of central corneal thickness

artículo científico publicado en 2009

The intravitreal injection pain study: a randomized control study comparing subjective pain with injection technique

artículo científico publicado en 2019

The molecular basis of HPFH in a British family identified by heteroduplex formation ⬇️

artículo científico publicado el 1 de mayo de 1993

The natural history of OPA1-related autosomal dominant optic atrophy

artículo científico publicado en 2008

The optic nerve head in myocilin glaucoma

artículo científico publicado en 2007

The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma

artículo científico publicado en 2012

The path to open-angle glaucoma gene discovery: endophenotypic status of intraocular pressure, cup-to-disc ratio, and central corneal thickness

artículo científico publicado en 2010

The pathogenesis of the glaucomas: nature versus nurture

The prevalence and causes of visual impairment in indigenous Australians within central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2010

The prevalence of glaucoma in indigenous Australians within Central Australia: the Central Australian Ocular Health Study.

artículo científico publicado en 2011

The reliability of single-field fundus photography in screening for diabetic retinopathy: the Central Australian Ocular Health Study.

artículo científico publicado en 2013

The role of the Met98Lys optineurin variant in inherited optic nerve diseases

artículo científico publicado en 2006

The role of toll-like receptor variants in acute anterior uveitis

artículo científico publicado en 2011

The status of intercellular junctions in established lens epithelial cell lines.

artículo científico publicado en 2012

The telomere of human chromosome 1p contains at least two independent autosomal dominant congenital cataract genes

artículo científico publicado en 2005

Tonography Demonstrates Reduced Facility of Outflow of Aqueous Humor in Myocilin Mutation Carriers

artículo científico publicado en 2003

Topical prostaglandin F(2alpha) analog induced poliosis

artículo científico publicado en 2004

Using Icare HOME tonometry for follow-up of patients with open-angle glaucoma before and after selective laser trabeculoplasty

scientific article published on 02 December 2019

Visual outcomes following vitrectomy for diabetic retinopathy amongst Indigenous and non-Indigenous Australians in South Australia and the Northern Territory

artículo científico publicado en 2017

WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness

artículo científico publicado en 2015

Whole exome sequencing implicates eye development, the unfolded protein response and plasma membrane homeostasis in primary open-angle glaucoma.

artículo científico publicado en 2017

Working Towards Eye Health Equity for Indigenous Australians with Diabetes

scientific article published on 12 December 2019

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