Do You See What I See?

https://phgkb.cdc.gov/GAPPKB/phgHome.do




Last Posted: May 05, 2017

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• Do You See What I See? 
• A Report on Molecular Diagnostic Testing for Inherited Retinal Dystrophies by Targeted Genetic Analyses.  
  Ramkumar Hema L et al. Genetic testing and molecular biomarkers 2017 Feb 21(2) 66-73
• Epigenetics and Signaling Pathways in Glaucoma.  
  Gauthier Angela C et al. BioMed research international 2017 20175712341
• Genetics and genetic testing for glaucoma.  
  Miller Matthew A et al. Current opinion in ophthalmology 2017 Mar (2) 133-138
• Unravelling the Complexity of Inherited Retinal Dystrophies Molecular Testing: Added Value of Targeted Next-Generation Sequencing.  
  Bernardis Isabella et al. BioMed research international 2016 20166341870
• A Cost-Effective Mutation Screening Strategy for Inherited Retinal Dystrophies.  
  Barandika Olatz et al. Ophthalmic research 2016 May
• Current landscape of direct-to-consumer genetic testing and its role in ophthalmology: a review.  
  Sanfilippo Paul G et al. Clinical & experimental ophthalmology 2015 Aug 43(6) 578-90
• Sample Confirmation Testing: A Short Tandem Repeat-Based Quality Assurance and Quality Control Procedure for the eyeGENE Biorepository.  
  Parrish Rebecca S et al. Biopreservation and biobanking 2016 Feb
• Simple Tips for Healthy Eyes
  Tips including knowing your family?s eye health history
• Dietary profile of patients with Stargardt's disease and Retinitis Pigmentosa: is there a role for a nutritional approach?  
  Sofi Francesco et al. BMC ophthalmology 2016 (1) 13
• Emotional Health of People with Visual Impairment Caused by Retinitis Pigmentosa.  
  Latham Keziah et al. PloS one 2015 (12) e0145866
• Let there be light: gene and cell therapy for blindness.  
  Dalkara Deniz et al. Human gene therapy 2016 Jan
• NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa.  
  Ge Zhongqi et al. Scientific reports 2015 18287
• Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa.  
  Perez-Carro Raquel et al. Scientific reports 2016 19531
• Whole-exome Sequencing Analysis Identifies Mutations in the EYS Gene in Retinitis Pigmentosa in the Indian Population.  
  Di Yanan et al. Scientific reports 2016 19432
• An Updated Review on the Genetics of Primary Open Angle Glaucoma.  
  Abu-Amero Khaled et al. International journal of molecular sciences 2015 (12) 28886-911

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