UB Paderborn / Katalog / Suche / in CDI

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

Nature genetics, 2014-10, Vol.46 (10), p.1120

2014

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Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

PLoS genetics, 2020-04, Vol.16 (4), p.e1008721-e1008721

2020

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

Ophthalmology (Rochester, Minn.), 2017-03, Vol.124 (3), p.303-309

2017

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

PloS one, 2017-03, Vol.12 (3), p.e0172427-e0172427

2017

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

Ophthalmology (Rochester, Minn.), 2013-06, Vol.120 (6), p.1135-1143

2013

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X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

American journal of human genetics, 2012-02, Vol.90 (2), p.247-259

2012

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Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

PloS one, 2014-08, Vol.9 (8), p.e104163-e104163

2014

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Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins

Twin research and human genetics, 2009-10, Vol.12 (5), p.441-454

2009

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

Ophthalmology (Rochester, Minn.), 2020-06, Vol.127 (6), p.758-766

2020

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

Molecular vision, 2019, Vol.25, p.527-534

2019

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Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants

Cornea, 2022-08, Vol.41 (8), p.1009

2022

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

JAMA ophthalmology, 2019-04, Vol.137 (4), p.348

2019

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

JAMA ophthalmology, 2019-01, Vol.137 (1), p.28

2019

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Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

Investigative ophthalmology & visual science, 2024-05, Vol.65 (5), p.22

2024

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

European journal of human genetics : EJHG, 2017-06, Vol.25 (7), p.839-847

2017

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Quantitative analysis of retinal vessel attenuation in eyes with retinitis pigmentosa

Investigative ophthalmology & visual science, 2012-06, Vol.53 (7), p.4306-4314

2012

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

Investigative ophthalmology & visual science, 2017-03, Vol.58 (3), p.1537-1544

2017

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

JAMA ophthalmology, 2015-07, Vol.133 (7), p.826

2015

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Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia

Clinical & experimental ophthalmology, 2013-09, Vol.41 (7), p.653-661

2013

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

Clinical & experimental ophthalmology, 2012-08, Vol.40 (6), p.569-575

2012

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Bleb vascularity following post-trabeculectomy subconjunctival bevacizumab: a pilot study

Clinical & experimental ophthalmology, 2012-11, Vol.40 (8), p.773-779

2012

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Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Investigative ophthalmology & visual science, 2011-09, Vol.52 (10), p.7432-7440

2011

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Combined diode laser cyclophotocoagulation and intravitreal bevacizumab (Avastin) in neovascular glaucoma

Clinical & experimental ophthalmology, 2010-05, Vol.38 (4), p.353-357

2010

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Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006

Clinical & experimental ophthalmology, 2010-04, Vol.38 (3), p.237-241

2010

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

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

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

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

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

X-Linked Megalocornea Caused by Mutations in CHRDL1 Identifies an Essential Role for Ventroptin in Anterior Segment Development

Association of CHRDL1 mutations and variants with X-linked megalocornea, Neuhäuser syndrome and central corneal thickness

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

Twins Eye Study in Tasmania (TEST): Rationale and Methodology to Recruit and Examine Twins

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

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

Comparison of Anterior Segment Abnormalities in Individuals With FOXC1 and PITX2 Variants

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

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

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients

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

Quantitative analysis of retinal vessel attenuation in eyes with retinitis pigmentosa

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

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

Incidence and predictors of glaucoma following surgery for congenital cataract in the first year of life in Victoria, Australia

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

Bleb vascularity following post-trabeculectomy subconjunctival bevacizumab: a pilot study

Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa

Combined diode laser cyclophotocoagulation and intravitreal bevacizumab (Avastin) in neovascular glaucoma

Rock, paper and scissors? Traumatic paediatric cataract in Victoria 1992-2006

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