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American Journal of Ophthalmology, ISSN 0002-9394, 2014, Volume 158, Issue 6, pp. 1275 - 1296.e1
Journal Article
Development (Cambridge), ISSN 0950-1991, 09/2015, Volume 142, Issue 17, pp. 3021 - 3032
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 2010, Volume 19, Issue 14, pp. 2858 - 2866
CHARGE syndrome is an autosomal dominant disorder caused in about two-third of cases by mutations in the CHD7 gene. For other genetic diseases e.g. hereditary... 
RNA-POLYMERASE-II | HEART-DISEASE | CHROMATIN REMODELING FACTOR | MENTAL-RETARDATION | GENE | CHOANAL ATRESIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | MULTIPLE ANOMALIES | MUTATIONS | BINDING PROTEIN | PHENOTYPIC SPECTRUM | Abnormalities, Multiple - metabolism | Protein Binding - genetics | Deafness - genetics | Sexual Infantilism - genetics | Developmental Disabilities - metabolism | Protein Interaction Domains and Motifs - physiology | Humans | Coloboma - genetics | Developmental Disabilities - genetics | Choanal Atresia - complications | DNA-Binding Proteins - metabolism | Heart Defects, Congenital - genetics | Mutation - physiology | Sexual Infantilism - complications | Transfection | Protein Interaction Domains and Motifs - genetics | DNA Helicases - genetics | Abnormalities, Multiple - genetics | Coloboma - complications | Choanal Atresia - genetics | Ear - abnormalities | DNA-Binding Proteins - genetics | Syndrome | Transcription Factors - metabolism | DNA Helicases - metabolism | Sexual Infantilism - metabolism | Two-Hybrid System Techniques | Choanal Atresia - metabolism | Heart Defects, Congenital - complications | Deafness - complications | Deafness - metabolism | Heart Defects, Congenital - metabolism | Coloboma - metabolism | HeLa Cells | Deafness - congenital | Developmental Disabilities - complications | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2012, Volume 7, Issue 12, pp. e51705 - e51705
Coloboma is a congenital disease that contributes significantly to childhood blindness. It results from the failure in closing the optic fissure, a transient... 
MORPHOGENESIS | GENE | ALPHA-CATENIN | MULTIDISCIPLINARY SCIENCES | MUTATION | CRE RECOMBINASE | ADHERENS JUNCTIONS | VERTEBRATE RETINA | BETA-CATENIN | EYE DEVELOPMENT | CHARGE-SYNDROME | Retinal Pigment Epithelium - metabolism | Retina - metabolism | Retina - growth & development | Cadherins - metabolism | alpha Catenin - metabolism | Humans | Coloboma - genetics | Retinal Pigment Epithelium - growth & development | Adherens Junctions - metabolism | Optic Disk - growth & development | Retina - cytology | Gene Expression Regulation, Developmental | Optic Disk - metabolism | Cell Differentiation | Cadherins - genetics | Optic Disk - physiology | Eye - metabolism | Actin Cytoskeleton - metabolism | Eye - growth & development | Cell Adhesion | beta Catenin - metabolism | Mice, Knockout | Animals | Mice | alpha Catenin - genetics | Coloboma - metabolism | Muscle proteins | Genetic aspects | Blindness | Genes | Retina | Retinal pigment epithelium | Defects | Cell adhesion & migration | Eye | Morphogenesis | Genotype & phenotype | β-catenin | Cell growth | N-Cadherin | Actin | Cell adhesion | α-catenin | Children | Medical research | Zebrafish | Adherens junctions | Conditional mutant | Mammals | Epithelium | Cadherin | Adhesion | Brain research | Morphology | Cells (biology) | Neural stem cells | Mutation | Index Medicus
Journal Article
Development, ISSN 0950-1991, 03/2010, Volume 137, Issue 5, pp. 725 - 734
Journal Article
Journal Article
Developmental Biology, ISSN 0012-1606, 08/2017, Volume 428, Issue 1, pp. 88 - 100
Journal Article
Journal Article
Developmental Biology, ISSN 0012-1606, 11/2015, Volume 407, Issue 2, pp. 256 - 264
Journal Article
Journal Article
Brain, ISSN 0006-8950, 2010, Volume 133, Issue 11, pp. 3210 - 3220
Journal Article
Developmental Biology, ISSN 0012-1606, 09/2017, Volume 429, Issue 1, pp. 92 - 104
The vertebrate retina develops in close proximity to the forebrain and neural crest-derived cartilages of the face and jaw. Coloboma, a congenital eye... 
Coloboma | Hedgehog signaling | Zebrafish | Alx1 | Zic2 | LOSS-OF-FUNCTION | EMBRYONIC-DEVELOPMENT | MOUSE FOREBRAIN | DEVELOPMENTAL BIOLOGY | VENTRAL OPTIC CUP | GENE-EXPRESSION | FRONTONASAL DYSPLASIA | TRANSCRIPTION FACTOR | HOMEOBOX GENE | EYE MORPHOGENESIS | SONIC-HEDGEHOG | Retina - drug effects | PAX2 Transcription Factor - metabolism | Cartilage - drug effects | Gene Expression Profiling | Retina - embryology | Zebrafish - embryology | Cell Lineage - drug effects | Neural Crest - metabolism | Coloboma - pathology | Veratrum Alkaloids - pharmacology | Cell Lineage - genetics | Neural Crest - cytology | Choroid - metabolism | Morphogenesis - genetics | Zebrafish Proteins - metabolism | Gene Expression Regulation, Developmental - drug effects | PAX2 Transcription Factor - genetics | Transcription Factors - genetics | Cartilage - metabolism | Mutation - genetics | Zebrafish - genetics | Neural Crest - drug effects | Sequence Homology, Amino Acid | Skull - embryology | Transcription Factors - metabolism | Animals | Sequence Analysis, RNA | Zebrafish - metabolism | Morphogenesis - drug effects | Face - embryology | Zebrafish Proteins - genetics | Choroid - embryology | Dysplasia | Neurosciences | Genetic disorders | RNA | Analysis | Research institutes | Medical informatics | Index Medicus | alx1 | zebrafish | coloboma | zic2
Journal Article