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Peripherin 2
Genetic Determinants Underlying Rare Diseases Identified Using Next-Generation Sequencing Technologies
Avian Binocularity and Adaptation to Nocturnal Environments: Genomic Insights Froma Highly Derived Visual Phenotype Rui Borges Universidade Do Porto - Portugal
Progressive Cone and Cone-Rod Dystrophies
Molecular Characterization of the Interaction Between Peripherin-2 and Opsins in Rod and Cone Photoreceptors
Nitrosourea Mutagenesis Causes Retinal Degeneration in Mice
Genes and Mutations Causing Autosomal Dominant Retinitis Pigmentosa
Mouse Models of Human Disease. Part II: Recent Progress and Future Directions
Novel Insights Into the Pathophysiology of Peripherin-2 Mutations in Rod and Cone Photoreceptors
Molecular Diagnostic Testing by Eyegene: Analysis of Patients with Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss
Retinal Dystrophies and Variants in PRPH2
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
GUCA1A Mutation Causes Maculopathy in a Five-Generation Family with a Wide Spectrum of Severity
PRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation
Genome De La Souris 7-10 Octobre 1996
PRPH2 Gene Peripherin 2
Guanylate Cyclase 1 Relies on Rhodopsin for Intracellular Stability and Ciliary Trafficking Jillian N. Pearring1, William J
Multistep Peripherin-2/Rds Self-Assembly Drives Membrane Curvature for Outer Segment Disk Architecture and Photoreceptor Viability
T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies
Top View
Cloning and Functional Characterization of Novel Genes Expressed Preferentially in the Human Retina
Peripherin-2 and Rom-1 Have Opposing Effects on Rod Outer
AAV-Mediated Knockdown of Peripherin-2 in Vivo Using Mirna-Based Hairpins
Current Concepts of Genotype-Phenotype Correlations
Case of the Month – June 2021 Presented by Christian Sanfilippo, MD
Macular Dystrophies: Clinical and Imaging Features, Molecular
Microarray Analysis of Peripheral Blood Lymphocytes from ALS
Retbindin: a Riboflavin Binding Protein, Is Critical for Photoreceptor Homeostasis and Survival in Models of Retinal Degeneratio
Gene Therapy for PRPH2-Associated Ocular Disease: Challenges and Prospects
High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
Nonantibestrophin Anti-RPE Antibodies in Paraneoplastic Exudative Polymorphous Vitelliform Maculopathy
Syntaxin 3 Is Essential for Photoreceptor Outer Segment Protein Trafficking and Survival
Characterization of Peripherin/Rds and Rom-1 Transport in Rod Photoreceptors of Transgenic and Knockout Animals
Investigating the Extent of Parallelism in Morphological and Genomic Divergence Among Lake Trout Ecotypes in Lake Superior
A Novel Mutation in the PRPH2 Gene in a Chinese Pedigree with Retinitis
Leber Congenital Amaurosis and Other Autosomal
Late-Onset Pattern Macular Dystrophy Mimicking ABCA4 and PRPH2 Disease, Is
Vitelliform Macular Dystrophy
Novel Localization of Peripherin 2, the Photoreceptor-Specific Retinal Degeneration Slow Protein, in Retinal Pigment Epithelium
Genomic Analysis of Mouse Retinal Development
Understanding the Function of Genes Involved in Inherited Retinal Degeneration-Insights Into the Pathogenesis and Function of C
A Review of Recent Developments in Retinitis Pigmentosa Genetics, Its Clinical Features, and Natural Course
The Interplay Between Peripherin 2 Complex Formation and Degenerative Retinal Diseases
Supplementary Table 1. a Full List of Cancer Genes
Dominantly Inherited Retinal Degeneration – Exploring the Spectrum of Human Retinal Dysfunction and the Underlying Molecular Pathology
Gene-Based Therapies for Dominantly Inherited Retinopathies