Detalhe da pesquisa
1.
Homozygous mutations in PXDN cause congenital cataract, corneal opacity, and developmental glaucoma.
Am J Hum Genet
; 89(3): 464-73, 2011 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-21907015
2.
Identification of a novel oligomerization disrupting mutation in CRYΑA associated with congenital cataract in a South Australian family.
Hum Mutat
; 34(3): 435-8, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23255486
3.
A novel syndrome of paediatric cataract, dysmorphism, ectodermal features, and developmental delay in Australian Aboriginal family maps to 1p35.3-p36.32.
BMC Med Genet
; 11: 165, 2010 Nov 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-21092079
4.
Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci.
Hum Genet
; 124(4): 379-86, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18795334
5.
Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract.
Mol Vis
; 14: 1799-804, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18843385
6.
Association of Polymorphisms in MACRO Domain Containing 2 With Thyroid-Associated Orbitopathy.
Invest Ophthalmol Vis Sci
; 57(7): 3129-37, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27304844
7.
Association of polymorphisms in the hepatocyte growth factor gene promoter with keratoconus.
Invest Ophthalmol Vis Sci
; 52(11): 8514-9, 2011 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-22003120
8.
Aldose reductase gene polymorphisms and diabetic retinopathy susceptibility.
Diabetes Care
; 33(8): 1834-6, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20424224