Detalhe da pesquisa
1.
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated disease.
PLoS Genet
; 20(5): e1011230, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38713708
2.
Amniotic membrane transplantation for acute ocular burns.
Cochrane Database Syst Rev
; 9: CD009379, 2022 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36047788
3.
Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet
; 102(3): 447-459, 2018 03 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29499165
4.
Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.
Am J Hum Genet
; 102(4): 528-539, 2018 04 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29526280
5.
Effect of Corneal Cross-linking versus Standard Care on Keratoconus Progression in Young Patients: The KERALINK Randomized Controlled Trial.
Ophthalmology
; 128(11): 1516-1526, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33892046
6.
Systemic interventions for severe atopic and vernal keratoconjunctivitis in children and young people up to the age of 16 years.
Cochrane Database Syst Rev
; 10: CD013298, 2020 10 21.
Artigo
Inglês
| MEDLINE | ID: mdl-33084033
7.
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Am J Hum Genet
; 99(6): 1338-1352, 2016 Dec 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27839872
8.
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
9.
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
Genet Med
; 21(9): 2092-2102, 2019 09.
Artigo
Inglês
| MEDLINE | ID: mdl-30733599
10.
The utility of massively parallel sequencing for posterior polymorphous corneal dystrophy type 3 molecular diagnosis.
Exp Eye Res
; 182: 160-166, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-30851240
11.
Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene.
BMC Ophthalmol
; 18(1): 250, 2018 Sep 17.
Artigo
Inglês
| MEDLINE | ID: mdl-30223810
12.
Topical treatments for blepharokeratoconjunctivitis in children.
Cochrane Database Syst Rev
; 2: CD011965, 2017 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-28170093
13.
Systemic treatment for blepharokeratoconjunctivitis in children.
Cochrane Database Syst Rev
; (5): CD011750, 2016 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-27236587
14.
Mutations in collagen, type XVII, alpha 1 (COL17A1) cause epithelial recurrent erosion dystrophy (ERED).
Hum Mutat
; 36(4): 463-73, 2015 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-25676728
15.
Identification of six novel mutations in ZEB1 and description of the associated phenotypes in patients with posterior polymorphous corneal dystrophy 3.
Ann Hum Genet
; 79(1): 1-9, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25441224
16.
X-linked megalocornea caused by mutations in CHRDL1 identifies an essential role for ventroptin in anterior segment development.
Am J Hum Genet
; 90(2): 247-59, 2012 Feb 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22284829
17.
Limbal melanocytes support limbal epithelial stem cells in 2D and 3D microenvironments.
Exp Eye Res
; 138: 70-9, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-26142953
18.
Conjunctival diverticuli in Stevens-Johnson syndrome.
Optom Vis Sci
; 92(6): e134-7, 2015 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-25909242
19.
How to manage herpes zoster ophthalmicus.
Community Eye Health
; 33(108): 71-72, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-32395029
20.
Antifungal susceptibility profiles for fungal isolates from corneas and contact lenses in the United Kingdom.
Eye (Lond)
; 38(3): 529-536, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-37684376