Detalhe da pesquisa
1.
Exome sequencing and functional studies in zebrafish identify WDR8 as the causative gene for isolated Microspherophakia in Indian families.
Hum Mol Genet
; 30(6): 467-484, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33693649
2.
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration.
Mol Vis
; 21: 285-92, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25814826
3.
A homozygous mutation in LTBP2 causes isolated microspherophakia.
Hum Genet
; 128(4): 365-71, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20617341
4.
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
PLoS One
; 11(3): e0152047, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27007659
5.
Analysis of rare variants in the C3 gene in patients with age-related macular degeneration.
PLoS One
; 9(4): e94165, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24736606
6.
A rare nonsynonymous sequence variant in C3 is associated with high risk of age-related macular degeneration.
Nat Genet
; 45(11): 1371-4, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24036950
7.
A functional variant in the CFI gene confers a high risk of age-related macular degeneration.
Nat Genet
; 45(7): 813-7, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23685748