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Journal Article
Genetics in Medicine, ISSN 1098-3600, 08/2017, Volume 19, Issue 8, pp. 875 - 882
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, pp. e0143846 - e0143846
Restoring vision in inherited retinal degenerations remains an unmet medical need. In mice exhibiting a genetically engineered block of the visual cycle,... 
Vitamin A - pharmacology | Vitamin A - analogs & derivatives | Humans | Middle Aged | Male | Visual Fields - drug effects | Acyltransferases - metabolism | Acyltransferases - genetics | Retinal Ganglion Cells - pathology | Young Adult | Drug Dosage Calculations | Visual Acuity - drug effects | Adult | Female | cis-trans-Isomerases - metabolism | Anticarcinogenic Agents - adverse effects | Anticarcinogenic Agents - pharmacology | Child | Anticarcinogenic Agents - therapeutic use | Administration, Oral | Retinitis Pigmentosa - drug therapy | Treatment Outcome | Cerebral Cortex - diagnostic imaging | Radiography | Vitamin A - therapeutic use | cis-trans-Isomerases - genetics | Polymorphism, Single Nucleotide | Retinal Neurons - pathology | Vitamin A - adverse effects | Physiological aspects | Research | Retinoids | Lecithin | Drug therapy | Retinitis pigmentosa | Headache | Disease | Retina | Defects | Acuity | Vitamin A | Coherence length | Hemispheres | Vomiting | Functional magnetic resonance imaging | Eye (anatomy) | Safety | Visual fields | Congenital diseases | Abnormalities | Cortex (occipital) | Oral administration | Visual acuity | Nausea | Cortex (visual) | Metabolism | Acyltransferase | Patients | Hospitals | Optical Coherence Tomography | Vision | Retinal degeneration | Photoreceptors | Genetic engineering | Retinitis | Mutation | Gene therapy | Acetic acid | Structure-function relationships | Index Medicus
Journal Article
Journal Article
F1000Research, ISSN 2046-1402, 2019, Volume 8, p. 2
A patient with WHIM syndrome immunodeficiency presented with sudden painless right eye blindness associated with advanced retinal and optic nerve damage.... 
Laboratories | Trimethoprim | Optics | Retina | Infections | Family medical history | Trimethoprim-sulfamethoxazole | Sulfamethoxazole | Immunology | Acquired immune deficiency syndrome--AIDS | Toxoplasmosis | Consent | Lymphocytes | Bone marrow | Medical research | Protozoa | Optic nerve | Dendritic cells | Neutrophils | Immunodeficiency | Patients | Infectious diseases | Biopsy | Blindness | Mutation
Journal Article
Journal Article
Retinal Cases & Brief Reports, ISSN 1935-1089, 07/2019, p. 1
PURPOSETo investigate, using multimodal imaging, the anatomy of neovascularization in eyes with enhanced S-cone syndrome. METHODSThree eyes with... 
Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 01/2018, Volume 20, Issue 1, pp. 14 - 23
Purpose: With improved medical care, some individuals with holoprosencephaly (HPE) are surviving into adulthood. We investigated the clinical manifestations of... 
wholeexome sequencing | holoprosencephaly | ZIC2 | natural history | DISP1 | POPULATION | ANOMALIES | PHENOTYPE | INDIVIDUALS | GENETICS & HEREDITY | MUTATIONS | SPECTRUM | whole-exome sequencing | MIDDLE INTERHEMISPHERIC VARIANT | EPIDEMIOLOGY | SONIC-HEDGEHOG | Adults | Index Medicus | Original
Journal Article
Ophthalmology, ISSN 0161-6420, 2016, Volume 123, Issue 3, pp. 571 - 582
Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective,... 
Ophthalmology | RETINAL DEGENERATION | HOMOCYSTINURIA CBLC | HOMOCYSTEINE | DRUG-DELIVERY | CBLC-TYPE | DEFECT | OPHTHALMOLOGY | CLINICAL HETEROGENEITY | NATURAL-HISTORY | COMBINED METHYLMALONIC ACIDURIA | CHILDREN | Optical Imaging | Follow-Up Studies | Humans | Nystagmus, Pathologic - genetics | Optic Nerve Diseases - diagnosis | Child, Preschool | Strabismus - genetics | Macular Degeneration - diagnosis | Macular Degeneration - drug therapy | Homocystinuria - physiopathology | Adult | Retrospective Studies | Child | Nystagmus, Pathologic - drug therapy | Visual Acuity - physiology | Hydroxocobalamin - therapeutic use | Electroretinography | Strabismus - physiopathology | Homocystinuria - drug therapy | Macular Degeneration - physiopathology | Optic Nerve Diseases - physiopathology | Tomography, Optical Coherence | Vitamin B 12 Deficiency - diagnosis | Vitamin B Complex - therapeutic use | Strabismus - diagnosis | Vitamin B 12 Deficiency - physiopathology | Injections, Intramuscular | Nystagmus, Pathologic - physiopathology | Vitamin B 12 Deficiency - drug therapy | Vitamin B 12 Deficiency - congenital | Disease Progression | Optic Nerve Diseases - drug therapy | Optic Nerve Diseases - genetics | Carrier Proteins - genetics | Phenotype | Macular Degeneration - genetics | Nystagmus, Pathologic - diagnosis | Adolescent | Vitamin B 12 Deficiency - genetics | Strabismus - drug therapy | Homocystinuria - diagnosis | Homocystinuria - genetics | Biopolymers | Genomics | Index Medicus
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2016, Volume 53, Issue 5, pp. 318 - 329
Journal Article
Journal of AAPOS, ISSN 1091-8531, 08/2018, Volume 22, Issue 4, pp. e49 - e49
Journal Article