Choroideremia: Variability of Clinical and Electrophysiological Characteristics and First Report of a Negative Electroretinogram

This publication has 24 references indexed in Scilit:

• Late Onset is Common in Best Macular Dystrophy Associated with VMD2 Gene Mutations
  Ophthalmology, 2005
• Choroideremia gene product affects trophoblast development and vascularization in mouse extra-embryonic tissues
  Developmental Biology, 2004
• Standard for clinical electroretinography (2004 update)
  Documenta Ophthalmologica, 2004
• Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene
  Ophthalmic Genetics, 2003
• Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideraemia
  British Journal of Ophthalmology, 2002
• Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
  Ophthalmology, 2001
• Standard for clinical electro-oculography
  Documenta Ophthalmologica, 1993
• Cloning of a gene that is rearranged in patients with choroideraemia
  Nature, 1990
• Electroretinographic Findings in Selected Pedigrees With Choroideremia
  American Journal of Ophthalmology, 1986
• Classification of the Choroidal Atrophies
  American Journal of Ophthalmology, 1971