Showing results (1-10 of 9) with videos related to

Sort By:
Pageof 1
Genes|December 24, 2021
Should Patients with Kearns-Sayre Syndrome and Corneal Endothelial Failure Be Genotyped for a TCF4 Trinucleotide Repeat, Commonly Associated with Fuchs Endothelial Corneal Dystrophy?Lubica Dudakova, Pavlina Skalicka, Alice E Davidson, et al.
European Journal of Human Genetics : EJHG|June 16, 2019
CUGC for posterior polymorphous corneal dystrophy (PPCD)Alice E Davidson, Nathaniel J Hafford-Tear, Lubica Dudakova, et al.
Progress in Retinal and Eye Research|August 1, 2020
TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated diseaseMichael P Fautsch, Eric D Wieben, Keith H Baratz, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 9, 2019
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeatNathaniel J Hafford-Tear, Yu-Chih Tsai, Amanda N Sadan, et al.
Acta Ophthalmologica|March 8, 2023
Phenotype and genotype of concurrent keratoconus and Fuchs endothelial corneal dystrophySiyin Liu, Amanda N Sadan, Kirithika Muthusamy, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2025
Rare variants in MIR184 are a novel genetic cause of Fuchs endothelial corneal dystrophyMarcos Abreu Costa, Amanda N Sadan, Nihar Bhattacharyya, et al.
Ebiomedicine|September 15, 2024
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mappingChristina Zarouchlioti, Stephanie Efthymiou, Stefano Facchini, et al.
Plos Genetics|May 7, 2024
Deciphering novel TCF4-driven mechanisms underlying a common triplet repeat expansion-mediated diseaseNihar Bhattacharyya, Niuzheng Chai, Nathaniel J Hafford-Tear, et al.
JAMA Ophthalmology|March 13, 2025
Genetic and Demographic Determinants of Fuchs Endothelial Corneal Dystrophy Risk and SeveritySiyin Liu, Amanda N Sadan, Nihar Bhattacharyya, et al.
Pageof 1