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Human Molecular Genetics, ISSN 0964-6906, 05/2013, Volume 22, Issue 10, pp. 2024 - 2040
Journal Article
Journal Article
Science, ISSN 0036-8075, 11/2003, Volume 302, Issue 5647, pp. 1044 - 1046
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2012, Volume 7, Issue 2, pp. e31650 - e31650
CHARGE syndrome is caused by mutations in the CHD7 gene. Several organ systems including the retina, cranial nerves, inner ear and heart are affected in CHARGE... 
INNER-EAR | GENE | RETINAL LAMINATION | CRANIAL NERVE ABNORMALITIES | BIOLOGY | SEMICIRCULAR CANALS | SOMITE SEGMENTATION | NEURAL CREST | ASSOCIATION | PHENOTYPIC SPECTRUM | N-CADHERIN | Body Patterning - drug effects | Retina - drug effects | Neovascularization, Physiologic - drug effects | Face - innervation | Heart - embryology | Retina - embryology | Spine - drug effects | RNA, Messenger - metabolism | Zebrafish - embryology | Gene Knockdown Techniques | DNA-Binding Proteins - metabolism | Otolithic Membrane - embryology | Motor Neurons - cytology | Spine - embryology | Cell Polarity - drug effects | Otolithic Membrane - drug effects | DNA Helicases - genetics | Skull - drug effects | Motor Neurons - drug effects | Disease Models, Animal | Calcification, Physiologic - drug effects | Zebrafish Proteins - metabolism | Morpholinos - administration & dosage | RNA, Messenger - genetics | Embryonic Development - genetics | Gene Expression Regulation, Developmental - drug effects | Axons - drug effects | DNA-Binding Proteins - genetics | Zebrafish - genetics | Neural Crest - drug effects | Skull - embryology | DNA Helicases - metabolism | Injections | Animals | CHARGE Syndrome - metabolism | Neural Crest - embryology | Zebrafish - metabolism | Morpholinos - pharmacology | Retina - abnormalities | Heart - drug effects | CHARGE Syndrome - genetics | Zebrafish Proteins - genetics | Embryonic Development - drug effects | Body Patterning - genetics | Somites - drug effects | Embryonic development | Genetic aspects | Heart | Segmentation | Pathogenesis | Genomics | Retina | Hybridization | Inner ear | Defects | Charge simulation | Morphogenesis | Organismal biology | Reduction | Mineralization | Nerves | Polarity | Fish | Vagus nerve | Chromosomes | Motor neurons | Vertebrae | Neurons | Retinal cells | Zebrafish | RNA polymerase | Dentistry | Gene expression | Clustering | Retinal ganglion cells | Hospitals | Cranial nerves | CHARGE syndrome | Photoreceptors | Skull | Mutation | Aberration | Curvature | Binding sites | Index Medicus
Journal Article
Development, ISSN 0950-1991, 09/2001, Volume 128, Issue 18, pp. 3497 - 3509
Sonic hedgehog (Shh) signaling patterns many vertebrate tissues. shh mutations dramatically affect mouse ventral forebrain and floor plate but produce minor... 
Motoneurons | Forebrain patterning | Hedgehog | Spinal cord | Floor plate | Pituitary | Zebrafish | Ventral neural tube | PROTEIN-KINASE-A | floor plate | pituitary ventral neural tube | motoneurons | NEURONAL DIFFERENTIATION | DEVELOPMENTAL BIOLOGY | forebrain patterning | hedgehog | BASAL-CELL CARCINOMA | VERTEBRATE GENOME EVOLUTION | GENE-EXPRESSION | CENTRAL-NERVOUS-SYSTEM | spinal cord | zebrafish | EMBRYONIC ZEBRAFISH | HEDGEHOG SIGNALING PATHWAY | SONIC-HEDGEHOG | Visual Pathways - cytology | Zinc Finger Protein Gli2 | Molecular Sequence Data | Retina - embryology | Visual Pathways - embryology | Zebrafish - embryology | Hedgehog Proteins | Retina - cytology | Smoothened Receptor | Body Patterning | Pituitary Gland, Anterior - embryology | Motor Neurons | Spinal Cord - cytology | Nervous System - embryology | Nervous System - cytology | Signal Transduction | Receptors, G-Protein-Coupled | Receptors, Cell Surface - metabolism | Transcription Factors - genetics | Spinal Cord - embryology | Phenotype | Animals | Pituitary Gland, Anterior - cytology | Prosencephalon - cytology | Trans-Activators - metabolism | Mutation | Zebrafish Proteins - genetics | Prosencephalon - embryology | Receptors, Cell Surface - genetics | shh gene | hedgehog protein | slow muscle omitted gene | smoothened gene | Sonic hedgehog protein | tiggy-winkle hedgehog gene | Index Medicus
Journal Article
Development, ISSN 0950-1991, 03/2010, Volume 137, Issue 5, pp. 725 - 734
Journal Article
Journal Article
Investigative Ophthalmology & Visual Science, ISSN 0146-0404, 03/2006, Volume 47, Issue 3, pp. 777 - 785
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2012, Volume 7, Issue 9, pp. e44975 - e44975
Joubert syndrome and related diseases (JSRD) are developmental cerebello-oculo-renal syndromes with phenotypes including cerebellar hypoplasia, retinal... 
RETINAL DEGENERATION | LEBER CONGENITAL AMAUROSIS | MUTATIONS CAUSE | TRANSITION ZONE | SYNDROME-RELATED DISORDERS | MULTIDISCIPLINARY SCIENCES | CILIOPATHY | MICE | NPHP6 GENE | CENTROSOMAL PROTEIN | MECKEL-GRUBER-SYNDROME | Brain - embryology | Kidney - embryology | Genomics | Humans | Eye Abnormalities - embryology | Retina - embryology | Cerebellum - abnormalities | Kidney Diseases, Cystic - embryology | Neoplasm Proteins - metabolism | Brain - metabolism | Kidney - metabolism | Gene Expression Regulation, Developmental | Antigens, Neoplasm - metabolism | Conserved Sequence | Kidney Diseases, Cystic - genetics | Neoplasm Proteins - genetics | Cerebellar Diseases - embryology | Antigens, Neoplasm - genetics | Cell Line | Abnormalities, Multiple | Eye Abnormalities - genetics | Organ Specificity | Centrosome - metabolism | Protein Transport | Animals | Cerebellar Diseases - genetics | Adaptor Proteins, Signal Transducing - genetics | Retina - abnormalities | Mice | Evolution, Molecular | Embryonic development | Gene mutations | Joubert syndrome | Physiological aspects | Development and progression | Genetic aspects | Research | Choroid plexus | Cerebellum | Brain | Syngeneic grafts | Congenital defects | Epithelial cells | Genes | Biological evolution | Central nervous system | Evolutionary genetics | Retina | Nervous system | Neurodevelopmental disorders | Tissues | Defects | Recruitment | Proteins | Ethics | Genotype & phenotype | Hypoplasia | Congenital diseases | Nephronophthisis | Developmental biology | Fetuses | Organs | Gene expression | Embryos | Medicine | Environmental science | Retinal degeneration | Mutation | Kidney diseases | Dystrophy | Position (location) | Kidney transplantation | Index Medicus
Journal Article