ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm

ALDH1A3 Mutations Cause Recessive Anophthalmia and Microphthalmia

(2013) Lucas Fares-Taie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Retinoic acid signalling during development

(2012) M. Rhinn et al.   DEVELOPMENT

Predicting the Functional Effect of Amino Acid Substitutions and Indels

(2012) Yongwook Choi et al.   PLoS One

Early retinoic acid deprivation in developing zebrafish results in microphthalmia

(2012) HONG-GAM T. LE et al.   VISUAL NEUROSCIENCE

High Frequency Of Submicroscopic Chromosomal Deletions in Patients with Idiopathic Congenital Eye Malformations

(2011) Irina Balikova et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

SnapShot: Retinoic Acid Signaling

(2011) Sandeep Kumar et al.   CELL

Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma

(2011) Gordana Raca et al.   GENETICS IN MEDICINE

First implication ofSTRA6mutations in isolated anophthalmia, microphthalmia, and coloboma: A new dimension to theSTRA6phenotype

(2011) Jillian Casey et al.   HUMAN MUTATION

Eye development genes and known syndromes

(2011) Anne M. Slavotinek   MOLECULAR GENETICS AND METABOLISM

Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases

(2010) J. Gonzalez-Rodriguez et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

(2010) Ryan Chao et al.   PLoS One

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

NovelSOX2mutations and genotype–phenotype correlation in anophthalmia and microphthalmia

(2009) Adele Schneider et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due toSTRA6mutations-What are the minimal criteria?

(2009) Reeval Segel et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Two novelSTRA6mutations in a patient with anophthalmia and diaphragmatic eventration

(2009) B. West et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Phenotypic spectrum ofSTRA6mutations: from Matthew-Wood syndrome to non-lethal anophthalmia

(2009) Nicolas Chassaing et al.   HUMAN MUTATION

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

A Primer for Morpholino Use in Zebrafish

(2009) Brent R. Bill et al.   Zebrafish

RBP4 Disrupts Vitamin A Uptake Homeostasis in a STRA6-Deficient Animal Model for Matthew-Wood Syndrome

(2008) Andrea Isken et al.   Cell Metabolism

Keeping an eye on retinoic acid signaling during eye development

(2008) Gregg Duester   CHEMICO-BIOLOGICAL INTERACTIONS

The temporal requirement for vitamin A in the developing eye: Mechanism of action in optic fissure closure and new roles for the vitamin in regulating cell proliferation and adhesion in the embryonic retina

(2008) Angela Wai-Man See et al.   DEVELOPMENTAL BIOLOGY

Ocular coloboma and dorsoventral neuroretinal patterning defects in Lrp6 mutant eyes

(2008) Cheng-Ji Zhou et al.   DEVELOPMENTAL DYNAMICS

Expressions of Raldh3 and Raldh4 during zebrafish early development

(2008) Dong Liang et al.   GENE EXPRESSION PATTERNS