Detalhe da pesquisa
1.
Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus.
Mol Vis
; 17: 827-43, 2011 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21527998
2.
Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes.
Am J Med Genet A
; 155A(8): 1906-16, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21744490
3.
Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing.
Eur J Hum Genet
; 25(1): 73-78, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27703147
4.
Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family.
Invest Ophthalmol Vis Sci
; 56(13): 7687-90, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26641546
5.
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
Invest Ophthalmol Vis Sci
; 54(3): 2207-15, 2013 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23462747
6.
Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.
Invest Ophthalmol Vis Sci
; 50(4): 1531-9, 2009 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-19011015