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Journal Article
JAMA Ophthalmology, ISSN 2168-6165, 2019, Volume 137, Issue 4, pp. 355 - 357
Ocular phenotypes of genetically determined eye disorders vary widely and overlap in physical findings and clinical appearance. This is particularly true of... 
OPHTHALMOLOGY | AXENFELD-RIEGER-SYNDROME | FOXC1 | MUTATIONS | PITX2 | Hypoplasia | Pax6 protein | Iris | Phenotypes | Congenital defects | Aniridia | Eye disorders | Retina | Ophthalmology | Index Medicus | Abridged Index Medicus
Journal Article
1998, Oxford monographs on medical genetics, ISBN 9780195096767, Volume no. 36, xv, 900
Book
Human Genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 795 - 798
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 03/2013, Volume 97, Issue 3, pp. 247 - 247
Journal Article
OPHTHALMIC SURGERY LASERS & IMAGING RETINA, ISSN 2325-8160, 06/2019, Volume 50, Issue 6, pp. E188 - E192
Choroidal neovascular membrane (CNVM) is a rare complication of choroideremia. The authors report a case of a 13-year-old male presenting with metamorphopsia... 
SURGERY | OPHTHALMOLOGY | COHERENCE TOMOGRAPHY-ANGIOGRAPHY
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 09/2012, Volume 44, Issue 9, pp. 1035 - 1039
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e3 - e3
Journal Article
Molecular Genetics and Genomics, ISSN 1617-4615, 6/2018, Volume 293, Issue 3, pp. 699 - 710
We investigated an Amish family in which three siblings presented with an early-onset childhood retinal dystrophy inherited in an autosomal recessive fashion.... 
Life Sciences | Human Genetics | Biochemistry, general | IQCB1 | Early-onset childhood retinal dystrophy | Plant Genetics and Genomics | Amish | Microbial Genetics and Genomics | Jalili syndrome | CNNM4 mutation | Animal Genetics and Genomics | Leber congenital amaurosis (LCA) | COMPREHENSIVE MOLECULAR DIAGNOSIS | SEVERE RETINAL DYSTROPHY | AMELOGENESIS IMPERFECTA | BIOCHEMISTRY & MOLECULAR BIOLOGY | LEBER CONGENITAL AMAUROSIS | GENE | CONE-ROD DYSTROPHY | GENETICS & HEREDITY | RETINITIS-PIGMENTOSA | CLINICAL PHENOTYPE | CEP290 | Genetic Predisposition to Disease | Prospective Studies | Humans | Retinitis Pigmentosa - genetics | Male | Calmodulin-Binding Proteins - metabolism | Leber Congenital Amaurosis - genetics | Amelogenesis Imperfecta - genetics | Codon, Nonsense | Whole Exome Sequencing - methods | Nonsense Mediated mRNA Decay | Young Adult | Amish - genetics | Cation Transport Proteins - metabolism | Pedigree | Adolescent | Protein Binding | Protein Domains | Cation Transport Proteins - genetics | Cone-Rod Dystrophies | Female | Retrospective Studies | Cation Transport Proteins - chemistry | Genetic Linkage | Nonsense mutation | Blindness | Retinal degeneration | Retina | Genomes | Children | Mutation | Dystrophy | Chromosome 2 | Age | Apoptosis | Linkage analysis | Index Medicus | Early onset childhood retinal | dystrophy
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2016, Volume 11, Issue 4, pp. e0153757 - e0153757
Journal Article