097d70aa-5c2b-44e8-a710-2b8bafe96185
Clinical, Genetic and Histopathological Characteristics of CRX-associated Retinal DystrophiesRetinitis pigmentosa, cutis laxa, and pseudoxanthoma elasticum-like skin manifestations associated with GGCX mutationsNeurotherapy: Progress in restorative neuroscience and neurology.The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12Understanding the role of Bruch's membrane in CNV.Pseudoxantoma Elasticum: A clinical, histopathological and molecular updateComplement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.COmplement factor 3a alters proteasome function in human RPE cells and in animal model of age-related RPE degeneration.Abcc6 deficiency in the mouse leads to calcification of collagen fibers in Bruch's membrane.Comparative gene expression study and pathway analysis of the human iris- and the retinal pigment epitheliumLONG-TERM FOLLOW-UP OF PATIENTS WITH RETINITIS PIGMENTOSA TYPE 12 CAUSED BY CRB1 MUTATIONSVision on gyrate atrophyPaucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 geneA Systematic Review on Transplantation Studies of the Retinal Pigment Epithelium in Animal ModelsA genome-wide association study of optic disc parameters.The Spectrum of Structural and Functional Abnormalities in Female Carriers of Pathogenic Variants in the RPGR GeneAlzheimer's disease and glaucoma-replyThe phenotypic spectrum of albinismNovel mutations in the PITX2 gene in Pakistani and Mexican families with Axenfeld-Rieger syndromeDietary magnesium, not calcium, prevents vascular calcification in a mouse model for pseudoxanthoma elasticum.LONG-TERM FOLLOW-UP OF PATIENTS WITH CHOROIDEREMIA WITH SCLERAL PITS AND TUNNELS AS A NOVEL OBSERVATIONThe circadian clock regulates RPE-mediated lactate transport via SLC16A1 (MCT1)Long-Term Follow-Up of Retinal Degenerations Associated With LRAT Mutations and Their Comparability to Phenotypes Associated With RPE65 MutationsAbcc6 deficiency causes increased infarct size and apoptosis in a mouse cardiac ischemia-reperfusion model.Nicotinamide, iRPE-in-a dish, and age-related macular degeneration therapy developmentABCC6-mediated ATP secretion by the liver is the main source of the mineralization inhibitor inorganic pyrophosphate in the systemic circulation-brief reportIntegrated genetic and physical map of the 1q31-->q31.1 region, encompassing the RP12 locus, the F13B and HF1 genes, and the EEF1AL11 and RPL30 pseudogenesAge-related maculopathy; its genetic basisComprehensive analysis of the candidate genes CCL2, CCR2, and TLR4 in age-related macular degeneration.Human ciliary epithelia do express genes with retinal progenitor cell characteristics in vivoThe level of hepatic ABCC6 expression determines the severity of calcification after cardiac injuryPhysiological evidence for impairment in autosomal dominant optic atrophy at the pre-ganglion level.Clinical characteristics and natural history of rho-associated retinitis pigmentosa.Course of visual decline in relation to the Best1 genotype in vitelliform macular dystrophy.The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous AlbinismPseudoxanthoma elasticum maps to an 820-kb region of the p13.1 region of chromosome 16Gene expression and functional annotation of the human and mouse choroid plexus epithelium.The SERPING1 gene and age-related macular degeneration.The complement component 5 gene and age-related macular degeneration.Clinical course of cone dystrophy caused by mutations in the RPGR gene.