Stickler syndrome: clinical care and molecular genetics

This publication has 13 references indexed in Scilit:

• Identification of a stop codon mutation in exon 2 of the collagen 2A1 gene in a large stickler syndrome family
  American Journal of Ophthalmology, 2002
• Radial perivascular retinal degeneration: a key to the clinical diagnosis of an ocular variant of Stickler syndrome with minimal or no systemic manifestations
  American Journal of Ophthalmology, 2002
• A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen
  Human Molecular Genetics, 1996
• Wagner Vitreoretinal Degeneration
  Ophthalmology, 1995
• Autosomal dominant and recessive osteochondrodysplasias associated with the COL11A2 locus
  Cell, 1995
• Stickler syndrome: Correlation between vitreoretinal phenotypes and linkage to COL 2A1
  Eye, 1994
• Erosive Vitreoretinopathy
  Ophthalmology, 1994
• 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
• Vitreoretinal Degeneration as a Sign of Generalized Connective Tissue Diseases
  American Journal of Ophthalmology, 1979
• Degeneratio Hyaloideo-Retinalis Hereditaria
  Ophthalmologica, 1962