Eye diseases [NEW TOPIC PAGE]

Hot Topics of the Day|PHGKB




Last Posted: Feb 13, 2020

---

• Molecular Therapies for Inherited Retinal Diseases-Current Standing, Opportunities and Challenges.
  Vázquez-Domínguez Irene et al. Genes 2019 10(9)
• Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations
  Genetics in Medicine, February 10, 2020
• Clinical application of NGS-based SNP haplotyping for the preimplantation genetic diagnosis of primary open angle glaucoma.
  Ji Xingzhe et al. Systems biology in reproductive medicine 2019 Jun 65(3) 258-263
• Glaucoma Pred: Glaucoma prediction based on Myocilin genotype and phenotype information.
  Rangachari K et al. Genomics 2019 111(4) 696-699
• Applications of Genomic Technologies in Retinal Degenerative Diseases.
  Ratnapriya Rinki et al. Advances in experimental medicine and biology 2019 1185281-285
• Scaling New Heights in the Genetic Diagnosis of Inherited Retinal Dystrophies.
  Gonzàlez-Duarte Roser et al. Advances in experimental medicine and biology 2019 1185215-219
• The Precise Diagnosis of Wolfram Syndrome Type 1 Based on Next-Generation Sequencing.
  Wang Dan-Dan et al. Frontiers in genetics 2019 101217
• Update on Inherited Retinal Disease in South Africa: Encouraging Diversity in Molecular Genetics.
  Roberts Lisa et al. Advances in experimental medicine and biology 2019 1185257-261
• [Promoting regulated gene diagnosis for retinoblastoma in clinical work].
  Liang J H et al. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology 2019 Nov 55(11) 806-810
• Evaluation of a deep learning system for the joint automated detection of diabetic retinopathy and age-related macular degeneration.
  González-Gonzalo Cristina et al. Acta ophthalmologica 2019 Nov

more