Free Access
Issue |
Med Sci (Paris)
Volume 20, Number 12, Décembre 2004
|
|
---|---|---|
Page(s) | 1066 - 1068 | |
Section | Nouvelles | |
DOI | https://doi.org/10.1051/medsci/200420121066 | |
Published online | 15 December 2004 |
- Perrault I, Hanein S, Gerber S, et al. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. Am J Hum Genet 2004; 75 : 639–46. [Google Scholar]
- Janecke AR, Thompson DA, Utermann G, et al. Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet 2004; 36 : 850–4. [Google Scholar]
- Perrault I, Hanein S, Gerber S, et al. Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele. J Med Genet 2003; 40 : e90. [Google Scholar]
- Sorsby A, Williams CE. Retinal aplasia as a clinical entity. Br Med J 1960; 1 : 293–97. [Google Scholar]
- Hanein S, Perrault I, Gerber S, et al. Leber congenital amaurosis : comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat 2004; 23 : 306–17. [Google Scholar]
- Marlhens F, Bareil C, Griffoin JM, et al. Mutations in RPE65 cause Leber’s congenital amaurosis. Nat Genet 1997; 17 : 139–41. [Google Scholar]
- Gu SM, Thompson DA, Srikumari CR, et al. Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy. Nat Genet 1997; 17 : 194–7. [Google Scholar]
- Thompson DA, Li Y, McHenry CL, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Nat Genet 2001; 28 : 123–4. [Google Scholar]
- Kuska V, Imanishi Y, Batten M, et al. Retinoid cycle in the vertebrate retina : experimental approaches and mechanisms of isomerization. Vision Res 2003; 43 : 2959–81. [Google Scholar]
- Stockton DW, Lewis RA, Abboud EB, et al. A novel locus for Leber congenital amaurosis on chromosome 14q24. Hum Genet 1998; 103 : 328–33. [Google Scholar]
Current usage metrics show cumulative count of Article Views (full-text article views including HTML views, PDF and ePub downloads, according to the available data) and Abstracts Views on Vision4Press platform.
Data correspond to usage on the plateform after 2015. The current usage metrics is available 48-96 hours after online publication and is updated daily on week days.
Initial download of the metrics may take a while.