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.
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
3.
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophy.
Acta Ophthalmol
; 101(6): 679-686, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-36883248
4.
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?
Genes (Basel)
; 12(12)2021 11 29.
Artigo
Inglês
| MEDLINE | ID: mdl-34946867
5.
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease.
Prog Retin Eye Res
; 81: 100883, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32735996
6.
CUGC for posterior polymorphous corneal dystrophy (PPCD).
Eur J Hum Genet
; 28(1): 126-131, 2020 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31201376
7.
Endothelial corneal dystrophy with annular stromal clefts.
Can J Ophthalmol
; 56(5): e150-e152, 2021 10.
Artigo
Inglês
| MEDLINE | ID: mdl-33775594