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Eye (Basingstoke), ISSN 0950-222X, 2019, Volume 33, Issue 5, pp. 826 - 832
Objectives To describe the clinical and Scheimpflug imaging features in cases of anterior megalophthalmos (AM). Methods Retrospective record review was... 
OPHTHALMOLOGY | MEGALOCORNEA | MANAGEMENT | SUBLUXATION | GLAUCOMA | LENS | Glaucoma | Cornea | Retina | Horizontal cells | Patients | Dislocation | Acuity | Tamponade | Eye | Surgery | Anterior chamber | Degeneration | Silicones
Journal Article
Clinical Journal of the American Society of Nephrology, ISSN 1555-9041, 12/2017, Volume 12, Issue 12, pp. 1962 - 1973
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and... 
Cerebellum | Hypertension | Polycystic kidney, autosomal recessive | Nephronophthisis | Joubert syndrome 1 | Ciliopathies | Retina | Cystic kidney | Prospective studies | Kidney diseases, cystic | Abnormalities, multiple | Genetic renal disease | Kidney | Sequence analysis, DNA | Pregnancy | Ciliopathy | Multicystic dysplastic kidney | Eye abnormalities | Phenotype | Kidney failure, chronic | Genetic association studies | Ultrasonography, prenatal | Mutation | Polycystic kidney disease | URINARY-TRACT MALFORMATIONS | MULTICYSTIC DYSPLASTIC KIDNEY | UROLOGY & NEPHROLOGY | FOLLOW-UP | DISORDERS | MUTATIONS | ATAXIA | SENIOR-LOKEN | MOLAR TOOTH SIGN | CHILDREN | Abnormalities, Multiple - metabolism | Retina - metabolism | Eye Abnormalities - diagnostic imaging | Prospective Studies | Multicystic Dysplastic Kidney - complications | Humans | Child, Preschool | Kidney Diseases, Cystic - diagnostic imaging | Infant | Male | Cerebellum - abnormalities | Polycystic Kidney, Autosomal Recessive - genetics | Young Adult | Cerebellum - diagnostic imaging | Polycystic Kidney, Autosomal Recessive - complications | Cell Cycle Proteins - genetics | Kidney Diseases, Cystic - genetics | Adult | Female | Neoplasm Proteins - genetics | Child | Eye Abnormalities - metabolism | Abnormalities, Multiple - genetics | Antigens, Neoplasm - genetics | Multicystic Dysplastic Kidney - genetics | Membrane Proteins - genetics | Cerebellum - metabolism | Abnormalities, Multiple - diagnostic imaging | Genotype | Eye Abnormalities - genetics | Polycystic Kidney, Autosomal Recessive - diagnostic imaging | Kidney Failure, Chronic - genetics | Proteins - genetics | Magnetic Resonance Imaging | Retina - diagnostic imaging | Kidney Diseases, Cystic - metabolism | Multicystic Dysplastic Kidney - diagnostic imaging | Ultrasonography, Prenatal | Adaptor Proteins, Signal Transducing - genetics | Adolescent | Age of Onset | Retina - abnormalities | Kidney Diseases, Cystic - complications | Kidney Diseases, Cystic - congenital | Eye Abnormalities - complications | Kidney Failure, Chronic - etiology | Index Medicus | nephronophthisis | cystic kidney | kidney | Eye Abnormalities | polycystic kidney disease | Kidney Diseases, Cystic | Multicystic Dysplastic Kidney | Polycystic Kidney, Autosomal Recessive | Genetic Association Studies | Abnormalities, Multiple | Sequence Analysis, DNA | genetic renal disease | ciliopathy | Kidney Failure, Chronic | Original | hypertension
Journal Article
Pediatrics, ISSN 0031-4005, 06/2015, Volume 135, Issue 6, pp. 1057 - 1065
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2010, Volume 86, Issue 2, pp. 254 - 261
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2013, Volume 161, Issue 12, pp. 3150 - 3154
Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including... 
GJA1 | pulmonary stenosis | ventricular septal defect | Ventricular septal defect | Pulmonary stenosis | GAP-JUNCTION GENE | CONNEXIN43 | DISEASE | GENETICS & HEREDITY | PHENOTYPE | MICE | MODEL | PREVALENCE | GJA1 MUTATIONS | Tooth Abnormalities - physiopathology | Humans | Pulmonary Valve Stenosis - physiopathology | Foot Deformities, Congenital - genetics | Infant | Male | Fingers - physiopathology | Heart Septal Defects, Ventricular - physiopathology | Craniofacial Abnormalities - physiopathology | Heart Defects, Congenital - genetics | Tooth Abnormalities - complications | Foot Deformities, Congenital - physiopathology | Female | Foot Deformities, Congenital - complications | Fingers - abnormalities | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Infant, Newborn | Connexin 43 - genetics | Syndactyly - complications | Heart Septal Defects, Ventricular - complications | Heart Septal Defects, Ventricular - genetics | Pulmonary Valve Stenosis - genetics | Tooth Abnormalities - genetics | Pulmonary Valve Stenosis - complications | Eye Abnormalities - genetics | Heart Defects, Congenital - complications | Eye Abnormalities - physiopathology | Heart Defects, Congenital - physiopathology | Mutation | Syndactyly - physiopathology | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Congenital heart disease | Genetic disorders | Heart | Hypoplasia | Oculodentodigital dysplasia | Gap junctions | Stenosis | Septum | Connexin 43 | Patients | Organogenesis | Missense mutation | Nose | Syndactyly | Ventricle | Index Medicus
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 05/2017, Volume 173, Issue 5, pp. 1237 - 1242
Journal Article
Neuropharmacology, ISSN 0028-3908, 12/2013, Volume 75, pp. 549 - 556
Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant disease that results in visible developmental anomalies of the limbs, face, eyes and teeth.... 
Stroke | Hemichannels | Connexin43 | Rare genetic disease | Gap junctional communication | Astrocytes | GAP-JUNCTION CHANNELS | CONNEXIN HEMICHANNELS | CORTICAL ASTROCYTES | NEUROSCIENCES | CX43 HEMICHANNELS | MOUSE MODEL | DEFICIENT | GROWTH | PHARMACOLOGY & PHARMACY | MUTATIONS | DECREASED LEVELS | COMMUNICATION | Foot Deformities, Congenital - genetics | Syndactyly - pathology | Cell Death - genetics | Tooth Abnormalities - complications | Craniofacial Abnormalities - pathology | Foot Deformities, Congenital - complications | Cell Death - drug effects | Neurons - drug effects | Craniofacial Abnormalities - complications | Craniofacial Abnormalities - genetics | Connexin 43 - genetics | Disease Models, Animal | Foot Deformities, Congenital - pathology | Syndactyly - complications | Astrocytes - drug effects | Gap Junctions - pathology | Tooth Abnormalities - genetics | Connexin 43 - metabolism | Glutamic Acid - pharmacology | Mice, Inbred C57BL | Cells, Cultured | Enzyme Inhibitors - pharmacology | Serine - genetics | Mice, Transgenic | Brain Ischemia - physiopathology | Eye Abnormalities - genetics | Mutation - genetics | Brain Infarction - etiology | Animals | Eye Abnormalities - pathology | Tooth Abnormalities - pathology | Connexin 43 - antagonists & inhibitors | Mice | Eye Abnormalities - complications | Syndactyly - genetics | Dysplasia | Gene mutations | Glycine | Glutamate | Analysis | Index Medicus
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 02/2017, Volume 376, Issue 6, pp. 561 - 561
A 15-year-old boy presented with diminution of vision in both eyes. Slit-lamp examination revealed persistent pupillary membranes caused by the presence of... 
MEDICINE, GENERAL & INTERNAL | Amblyopia - etiology | Eye Abnormalities - pathology | Humans | Adolescent | Iris - abnormalities | Male | Eye Abnormalities - complications | Membranes | Fetuses | Index Medicus | Abridged Index Medicus
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 5/2012, Volume 123, Issue 5, pp. 695 - 709
Journal Article
16.