Concepedia
Der Ophthalmologe · 2007 · 14 citations · 33 references
A genotype-phenotype correlation for selected genes allows an optimized strategy for the molecular genetic work-up.
33
Optical Coherence Tomography
David Huang, Eric A. Swanson, Charles P. Lin et al. · Science · 1991 · 13.5K citations
Tissue Imaging, Engineering, Vascular Image +12
Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital Amaurosis
Anneke I. den Hollander, Robert K. Koenekoop, Suzanne Yzer et al. · The American Journal of Human Genetics · 2006 · 670 citations · Full text
Developmental Biology, Genetic Disorder, Genetics +7
Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
Sumin Gu, Debra A. Thompson, C.R. Srikumari et al. · Nature Genetics · 1997 · 662 citations
Ocular Disease, Retina, Mendelian Disorder +7
Standard for clinical electroretinography (2004 update)
Michael F. Marmor, Graham E. Holder, Mathias W. Seeliger et al. · Documenta Ophthalmologica · 2004 · 504 citations
Electrophysiological Evaluation, Medicine, Patient Safety +7
Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
Hiroyuki Morimura, Gerald A. Fishman, Sandeep Grover et al. · Proceedings of the National Academy of Sciences · 1998 · 482 citations