Molecular Testing for Hereditary Retinal Disease as Part of Clinical Care
- 1 February 2007
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 125 (2) , 252-258
- https://doi.org/10.1001/archopht.125.2.252
Abstract
Research from JAMA Ophthalmology — Molecular Testing for Hereditary Retinal Disease as Part of Clinical CareKeywords
This publication has 30 references indexed in Scilit:
- Mutation in a short-chain collagen gene, CTRP5 , results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degenerationHuman Molecular Genetics, 2003
- Genotyping microarray (gene chip) for theABCR(ABCA4) geneHuman Mutation, 2003
- A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophyNature Genetics, 2001
- Genotype-phenotype correlations and differential diagnosis in autosomal dominant macular disease.Documenta Ophthalmologica, 2001
- Genetic Diseases of the Eye.American Journal of Human Genetics, 1999
- A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophyNature Genetics, 1999
- Bestrophin Gene Mutations in Patients with Best Vitelliform Macular DystrophyGenomics, 1999
- Positional cloning of the gene associated with X-linked juvenile retinoschisisNature Genetics, 1997
- Digenic Retinitis Pigmentosa Due to Mutations at the Unlinked Peripherin/ RDS and ROM1 LociScience, 1994
- Phenotypic Variation Including Retinitis Pigmentosa, Pattern Dystrophy, and Fundus Flavimaculatus in a Single Family With a Deletion of Codon 153 or 154 of the Peripherin/RDS GeneArchives of Ophthalmology (1950), 1993