Detalhe da pesquisa
1.
Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
Am J Hum Genet
; 98(1): 75-89, 2016 Jan 07.
Artigo
Inglês
| MEDLINE | ID: mdl-26749309
2.
Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).
Nat Genet
; 38(7): 755-7, 2006 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-16767101
3.
X-linked cone dystrophy caused by mutation of the red and green cone opsins.
Am J Hum Genet
; 87(1): 26-39, 2010 Jul 09.
Artigo
Inglês
| MEDLINE | ID: mdl-20579627
4.
Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families.
Ophthalmic Res
; 40(2): 105-8, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18259096
5.
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
Hum Mutat
; 28(6): 638, 2007 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-17437275
6.
Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online.
Hum Mutat
; 28(5): 522-3, 2007 May.
Artigo
Inglês
| MEDLINE | ID: mdl-17397048
7.
Molecular analysis of the VSX1 gene in familial keratoconus.
Mol Vis
; 13: 1887-91, 2007 Oct 04.
Artigo
Inglês
| MEDLINE | ID: mdl-17960127
8.
A novel missense mutation in both OPN1LW and OPN1MW cone opsin genes causes X-linked cone dystrophy (XLCOD5).
Adv Exp Med Biol
; 723: 595-601, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-22183383
9.
Posterior polymorphous corneal dystrophy in Czech families maps to chromosome 20 and excludes the VSX1 gene.
Invest Ophthalmol Vis Sci
; 46(12): 4480-4, 2005 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-16303937
10.
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families.
Invest Ophthalmol Vis Sci
; 46(6): 1891-8, 2005 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-15914600
11.
Clinical and molecular characterization of a family with autosomal recessive cornea plana.
Arch Ophthalmol
; 123(9): 1248-53, 2005 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-16157807
12.
Novel CHST6 nonsense and missense mutations responsible for macular corneal dystrophy.
Am J Ophthalmol
; 139(1): 192-3, 2005 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-15652851
13.
Identification of novel mutations in the carbohydrate sulfotransferase gene (CHST6) causing macular corneal dystrophy.
Invest Ophthalmol Vis Sci
; 43(2): 377-82, 2002 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-11818380
14.
Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and deletions.
Invest Ophthalmol Vis Sci
; 43(6): 1843-9, 2002 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-12036988
15.
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PLoS One
; 7(9): e45495, 2012.
Artigo
Inglês
| MEDLINE | ID: mdl-23049806
16.
Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers.
Arch Ophthalmol
; 128(9): 1191-5, 2010 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-20837804
17.
Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients.
Exp Eye Res
; 84(4): 680-6, 2007 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-17289024
18.
Differential immunogold localisation of sulphated and unsulphated keratan sulphate proteoglycans in normal and macular dystrophy cornea using sulphation motif-specific antibodies.
Histochem Cell Biol
; 127(1): 115-20, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-16944190
19.
A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.
Ophthalmic Res
; 37(6): 310-7, 2005.
Artigo
Inglês
| MEDLINE | ID: mdl-16118514
20.
Recombination hotspots and block structure of linkage disequilibrium in the human genome exemplified by detailed analysis of PGM1 on 1p31.
Hum Mol Genet
; 13(24): 3089-102, 2004 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-15509594