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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

Progress in retinal and eye research, 2024-09, Vol.102, p.101288, Article 101288

2024

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Genetics of anterior segment dysgenesis disorders

Current opinion in ophthalmology, 2011-09, Vol.22 (5), p.314-324

2011

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Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

PloS one, 2017-09, Vol.12 (9), p.e0184903-e0184903

2017

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Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

PLoS genetics, 2015-02, Vol.11 (2), p.e1005002-e1005002

2015

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Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

European journal of human genetics : EJHG, 2016-04, Vol.24 (4), p.535-541

2016

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Further Evidence for a Possible Role for ZHFX4 in Human Ocular Development and Disease

American journal of medical genetics. Part A, 2024-10, p.e63911

2024

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Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

Nature communications, 2024-10, Vol.15 (1), p.9245-16, Article 9245

2024

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pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish

PloS one, 2012-01, Vol.7 (1), p.e30896

2012

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CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

Human genomics, 2022-10, Vol.16 (1), p.49-49, Article 49

2022

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Whole exome sequence analysis of Peters anomaly

Human genetics, 2014-12, Vol.133 (12), p.1497-1511

2014

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EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

Birth defects research. A Clinical and molecular teratology, 2015-07, Vol.103 (7), p.630-640

2015

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BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Human genetics, 2011-10, Vol.130 (4), p.495-504

2011

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Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

American journal of medical genetics. Part A, 2009-12, Vol.149A (12), p.2706-2715

2009

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Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

Human genetics, 2019-09, Vol.138 (8-9), p.847-863

2019

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MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens

PloS one, 2011-06, Vol.6 (6), p.e21122-e21122

2011

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A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

Human mutation, 2024, Vol.2024, p.1-15

2024

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ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

European journal of human genetics : EJHG, 2023-03, Vol.31 (3), p.363-367

2023

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Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

Developmental dynamics, 2021-08, Vol.250 (8), p.1056-1073

2021

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De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

American journal of human genetics, 2019-08, Vol.105 (2), p.425-433

2019

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Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Progress in retinal and eye research, 2023-07, Vol.95, p.101133-101133, Article 101133

2023

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Current molecular understanding of Axenfeld–Rieger syndrome

Expert reviews in molecular medicine, 2005-11, Vol.7 (25), p.1-17

2005

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Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish

TheScientificWorld, 2014-01, Vol.2014 (2014), p.1-9

2014

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Axenfeld-Rieger syndrome: more than meets the eye

Journal of medical genetics, 2023-04, Vol.60 (4), p.368-379

2023

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In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome

Investigative ophthalmology & visual science, 2024-04, Vol.65 (4), p.20-20

2024

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Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

Human molecular genetics, 2020-09, Vol.29 (16), p.2723-2735

2020

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Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms

Genetics of anterior segment dysgenesis disorders

Functional characterization of zebrafish orthologs of the human Beta 3-Glucosyltransferase B3GLCT gene mutated in Peters Plus Syndrome

Mutations in MAB21L2 result in ocular Coloboma, microcornea and cataracts

Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma

Further Evidence for a Possible Role for ZHFX4 in Human Ocular Development and Disease

Deletion upstream of MAB21L2 highlights the importance of evolutionarily conserved non-coding sequences for eye development

pitx2 Deficiency results in abnormal ocular and craniofacial development in zebrafish

CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements

Whole exome sequence analysis of Peters anomaly

EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model

BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndrome

Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia

Genetic landscape of isolated pediatric cataracts: extreme heterogeneity and variable inheritance patterns within genes

MIP/Aquaporin 0 represents a direct transcriptional target of PITX3 in the developing lens

A De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element

ARHGAP35 is a novel factor disrupted in human developmental eye phenotypes

Genetic disruption of zebrafish mab21l1 reveals a conserved role in eye development and affected pathways

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome

Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches

Current molecular understanding of Axenfeld–Rieger syndrome

Lens Extrusion from Laminin Alpha 1 Mutant Zebrafish

Axenfeld-Rieger syndrome: more than meets the eye

In Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome

Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome

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