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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
by Schönbach, Etienne M and Schönbach, Etienne and Strauss, Rupert W and Kong, Xiangrong and Muñoz, Beatriz and Ibrahim, Mohamed A and Sunness, Janet S and Birch, David and Birch, David G and Hahn, Gesa Astrid and Hahn, Gesa-Astrid and Nasser, Fadi and Zrenner, Eberhart and Sadda, Srinivas and Sadda, SriniVas R and West, Sheila K and West, Sheila and Scholl, Hendrik P.N and Wolfson, Yulia and Bittencourt, Millena and Shah, Syed Mahmood and Ahmed, Mohamed and Fujinami, Kaoru and Traboulsi, Elias and Ehlers, Justis and Marino, Meghan and Crowe, Susan and Briggs, Rachael and Borer, Angela and Pinter, Anne and Fecko, Tami and Burgnoni, Nikki and Applegate, Carol and Russell, Leslie and Michaelides, Michel and Esposti, Simona Degli and Moore, Anthony and Webster, Andrew and Connor, Sophie and Barnfield, Jade and Salchi, Zaid and Alfageme, Clara and McCudden, Victoria and Pefkianaki, Maria and Aboshiha, Jonathan and Liew, Gerald and Holder, Graham and Robson, Anthony and King, Alexa and Narvaez, Daniela Ivanova Cajas and Barnard, Katy and Grigg, Catherine and Dunbar, Hannah and Obadeyi, Yetunde and Girard-Claudon, Karine and Swann, Hilary and Rughani, Avani and Amoah, Charles and Carrington, Dominic and Bibi, Kanom and Co, Emerson Ting and Illiyas, Mohamed Nafaz and Begum, Hamida and Carter, Andrew and Georgiou, Anne and Lewism, Selma and Shaheen, Saddaf and Shinmar, Harpreet and Burton, Linda and Bernstein, Paul and Wegner, Kimberley and Sawyer, Briana Lauren and Carlstrom, Bonnie and Farnsworth, Kellian and Fry, Cyrie and Chandler, Melissa and Jenkins, Dennis and Jenkins, Glen and Creel, Donnel and Wang, Yi-Zhong and Rodriguez, Luis and Locke, Kirsten and Klein, Martin and Mejia, Paulina and Cideciyan, Artur V and Jacobson, Samuel G and Schwartz, Sharon B and Matsui, Rodrigo and Gruzensky, Michaela and Charng, Jason and Roman, Alejandro J and Wilhelm, Barbara and Peters, Tobias and Beier, Benjamin and Koenig, Tilman and Kramer, Susanne and Kramer, Brendan and Sahel, José-Alain and Mohand-Said, Saddek and Audo, Isabelle and ... and Progstar Study Grp and ProgStar Study Group
American Journal of Ophthalmology, ISSN 0002-9394, 09/2018, Volume 193, pp. 54 - 61
To investigate the natural history of Stargardt disease (STGD1) using fixation location and fixation stability. Multicenter, international, prospective cohort... 
OPHTHALMOLOGY | ATROPHY SECONDARY | VISUAL-ACUITY LOSS | NATURAL-HISTORY | NIDEK MP-1 | PROGRESSION | FEATURES | Medicine, Experimental | Medical research | Atrophy | Studies | Reading | Disease | Clinical trials | Software | Mutation | Ophthalmology | Patients | Age
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 247 - 259
X-linked megalocornea (MGC1) is an ocular anterior segment disorder characterized by an increased cornea diameter and deep anterior chamber evident at birth... 
EYE | WATER DIFFUSION | BONE MORPHOGENETIC PROTEIN | ACQUISITION | GENETICS & HEREDITY | BIOMETRY | UPDATE | ISCEV STANDARD | CHORDIN | LINKAGE | BRAIN | Anterior Eye Segment - embryology | Cerebral Palsy - metabolism | Humans | Middle Aged | Eye Abnormalities - embryology | Genetic Diseases, X-Linked - complications | Molecular Sequence Data | Corneal Diseases - metabolism | Male | Retina - embryology | Anterior Eye Segment - abnormalities | Intellectual Disability - genetics | Intellectual Disability - metabolism | Young Adult | Corneal Diseases - genetics | Genes, X-Linked | Base Sequence | Nerve Tissue Proteins - biosynthesis | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Megalencephaly - genetics | DNA Copy Number Variations - genetics | Megalencephaly - metabolism | Genetic Diseases, X-Linked - metabolism | Eye Abnormalities - genetics | Nerve Tissue Proteins - genetics | Genetic Diseases, X-Linked - embryology | Phenotype | Pedigree | Retina - abnormalities | Brain - pathology | Cornea - abnormalities | Mutation | Quantitative Trait Loci | Cerebral Palsy - genetics | Eye Abnormalities - complications | Eye Proteins - biosynthesis | Brain | Gene mutations | Genetic variation | Physiological aspects | Causes of | Corneal diseases | Retina | Genetic aspects | Research | Ophthalmology | Proteins | Cornea | Genetic disorders | Morphology | Cognitive ability | Genetic research | Gene expression | Index Medicus
Journal Article
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2008, Volume 145, Issue 6, pp. 997 - 1001.e1
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e3 - e3
Journal Article
2016, ISBN 9781493927449
This case-based approach to the management of pediatric eye diseases and strabismus teaches the novice, as well as the experienced surgeon, how to... 
Medicine | Ophthalmology
Web Resource
2016, ISBN 9781493927449
This case-based approach to the management of pediatric eye diseases and strabismus teaches the novice, as well as the experienced surgeon, how to... 
Medicine | Ophthalmology
Web Resource
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