Detalhe da pesquisa
1.
ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature.
Proc Natl Acad Sci U S A
; 110(24): 9856-61, 2013 Jun 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-23716654
2.
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Am J Hum Genet
; 86(2): 240-7, 2010 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-20159111
3.
Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.
Hum Mutat
; 31(6): 656-66, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20340138
4.
CDK19 is disrupted in a female patient with bilateral congenital retinal folds, microcephaly and mild mental retardation.
Hum Genet
; 128(3): 281-91, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20563892
5.
Detection and quantification of a KIF11 mosaicism in a subject presenting familial exudative vitreoretinopathy with microcephaly.
Eur J Hum Genet
; 26(12): 1819-1823, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181612
6.
Clinical and molecular evaluation of probands and family members with familial exudative vitreoretinopathy.
Invest Ophthalmol Vis Sci
; 50(9): 4379-85, 2009 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324841