Detalhe da pesquisa
1.
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation.
Hum Mol Genet
; 25(19): 4211-4226, 2016 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27506978
2.
Investigation of SLA4A3 as a candidate gene for human retinal disease.
J Negat Results Biomed
; 15: 11, 2016 May 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27211793
3.
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.
Adv Exp Med Biol
; 854: 201-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26427412
4.
Genetic screening for PRA-associated mutations in multiple dog breeds shows that PRA is heterogeneous within and between breeds.
Vet Ophthalmol
; 17(2): 126-30, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24255994
5.
An Intronic SINE insertion in FAM161A that causes exon-skipping is associated with progressive retinal atrophy in Tibetan Spaniels and Tibetan Terriers.
PLoS One
; 9(4): e93990, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705771
6.
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever.
Canine Genet Epidemiol
; 1: 4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-26401321
7.
A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations.
PLoS One
; 6(6): e21452, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21738669