Associated Papers
Classic lattice corneal dystrophy: a brief review and summary of treatment modalities.
Milovanova E et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2024
Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.
Zhu D et al.
International Journal of Molecular Sciences, 2023
Evaluation of the Genetic Variation Spectrum Related to Corneal Dystrophy in a Large Cohort.
Li W et al.
Frontiers in Cell and Developmental Biology, 2021
A pathogenic variant in the transforming growth factor beta I (TGFBI) in four Iranian extended families segregating granular corneal dystrophy type II: A literature review.
Mohammadi A et al.
Iranian Journal of Basic Medical Sciences, 2020
Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies.
Kheir V et al.
Human Mutation, 2019
The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study.
Papuc SM et al.
European Journal of Human Genetics : Ejhg, 2019
Identification of a Heterozygous Mutation in the TGFBI Gene in a Hui-Chinese Family with Corneal Dystrophy.
Xiang Q et al.
Journal of Ophthalmology, 2019
Towards personalised allele-specific CRISPR gene editing to treat autosomal dominant disorders.
Christie KA et al.
Scientific Reports, 2017
Pathogenesis and treatments of TGFBI corneal dystrophies.
Han KE et al.
Progress in Retinal and Eye Research, 2016
Clinical and genetic aspects of the TGFBI-associated corneal dystrophies.
Lakshminarayanan R et al.
The Ocular Surface, 2014
Clinical proteome informatics workbench detects pathogenic mutations in hereditary amyloidoses.
Dasari S et al.
Journal of Proteome Research, 2014
Granular and lattice deposits in corneal dystrophy caused by R124C mutation of TGFBIp.
Patel DA et al.
Cornea, 2010
TGFBI mutation screening and genotype-phenotype correlation in north Indian patients with corneal dystrophies.
Paliwal P et al.
Molecular Vision, 2010
Double mutation (R124H, N544S) of TGFBI in two sisters with combined expression of Avellino and lattice corneal dystrophies.
Yamada N et al.
Molecular Vision, 2009
TGFBI gene mutations in corneal dystrophies.
Kannabiran C et al.
Human Mutation, 2006
A novel mutation of the TGFBI gene found in a Vietnamese family with atypical granular corneal dystrophy.
Ha NT et al.
Japanese Journal of Ophthalmology, 0
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy.
Cung le X et al.
Japanese Journal of Ophthalmology, 0
Genetics of anterior and stromal corneal dystrophies.
Poulaki V et al.
Seminars in Ophthalmology, 0