Molecular genetics of rhegmatogenous retinal detachment

This publication has 29 references indexed in Scilit:

• Classical Ehlers-Danlos Syndrome Caused by a Mutation in Type I Collagen
  American Journal of Human Genetics, 2000
• COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes
  British Journal of Ophthalmology, 2000
• A−2→G transition at the 3′ acceptor splice site of IVS17 characterizes the COL2A1 gene mutation in the original stickler syndrome kindred
  American Journal of Medical Genetics, 1996
• A Regulatory Mechanism That Detects Premature Nonsense Codons in T-cell Receptor Transcripts in Vivo Is Reversed by Protein Synthesis Inhibitors in Vitro
  Journal of Biological Chemistry, 1995
• Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1
  Eye, 1994
• Procollagen II Gene Mutation in Stickler Syndrome
  Archives of Ophthalmology (1950), 1992
• Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy).
  Proceedings of the National Academy of Sciences, 1991
• Cartilage expression of a type II collagen mutation in an inherited form of osteoarthritis associated with a mild chondrodysplasia.
  Journal of Clinical Investigation, 1991
• Prevention and perspective in retinal detachment
  Eye, 1989
• The Stickler syndrome: Evidence for close linkage to the structural gene for type II collagen
  Genomics, 1987