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Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

Progress in retinal and eye research, 2020-07, Vol.77, p.100843-100843, Article 100843

2020

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The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population

Gene, 2012-07, Vol.503 (1), p.137-139

2012

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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

BMC medical genomics, 2021-01, Vol.14 (1), p.9-8, Article 9

2021

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De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA

Journal of clinical medicine, 2022-05, Vol.11 (11), p.3055

2022

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Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region

Turk oftalmoloji gazetesi, 2020-04, Vol.50 (2), p.64-70

2020

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Lattice corneal dystrophy type 1: an epithelial or stromal entity?

Cornea, 2014-10, Vol.33 (10), p.1109-1112

2014

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Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

Ophthalmic genetics, 2019-07, Vol.40 (4), p.329-337

2019

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Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy

Zhonghua yi xue yi chuan xue za zhi, 2017-10, Vol.34 (5), p.629

2017

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Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations

Experimental eye research, 2009-08, Vol.89 (2), p.172-177

2009

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Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies

International ophthalmology, 2016-12, Vol.36 (6), p.867-873

2016

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Molekulargenetische und histopathologische Untersuchungen zur Genotyp-Phänotyp-Analyse bei Patienten mit TGFBI-gekoppelten Hornhautdystrophien

Klinische Monatsblätter für Augenheilkunde, 2006-10, Vol.223 (10), p.829-836

2006

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Focus on molecules: Transforming growth factor beta induced protein (TGFBIp)

Experimental eye research, 2008-10, Vol.87 (4), p.298-299

2008

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A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree

BMC ophthalmology, 2015-10, Vol.15 (1), p.131-131, Article 131

2015

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Study of TGFBI gene mutations in Ukrainian patients with corneal dystrophies

Biopolimery i kletka, 2008-01, Vol.24 (1), p.60-68

2008

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Corneal dystrophies in Japan

Journal of human genetics, 2001-01, Vol.46 (8), p.431-435

2001

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Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy

Cornea, 2010-06, Vol.29 (6), p.698-700

2010

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Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene

Clinica terapeutica, 2014, Vol.165 (1), p.e73

2014

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Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino,lattice,and macular corneal dystrophies

Journal of Zhejiang University. B. Science, 2011-09, Vol.12 (9), p.687-693

2011

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Phenotypic non-penetrance in granular corneal dystrophy type II

Graefe's archive for clinical and experimental ophthalmology, 2008-11, Vol.246 (11), p.1629-1631

2008

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A case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality

Japanese journal of ophthalmology, 2010-11, Vol.54 (6), p.628-629

2010

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Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

Journal of Zhejiang University. B. Science, 2011-04, Vol.12 (4), p.287-292

2011

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Novel L558P Mutation of the TGFBI Gene Found in Ukrainian Families with Atypical Corneal Dystrophy

Ophthalmologica (Basel), 2009-01, Vol.223 (3), p.207-214

2009

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Analyses of coding sequence point mutation and polymorphism of TGFBI gene in Chinese patients with keratoconus

Zhonghua yi xue yi chuan xue za zhi, 2011-04, Vol.28 (2), p.152

2011

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Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

Ophthalmic research, 2008-01, Vol.40 (2), p.105-108

2008

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Late-onset Form of Lattice Corneal Dystrophy Caused by Leu527Arg Mutation of the TGFBI Gene

Cornea, 2001-07, Vol.20 (5), p.525-529

2001

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Biochemical mechanisms of aggregation in TGFBI-linked corneal dystrophies

The point mutation and polymorphism in keratoconus candidate gene TGFBI in Chinese population

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

De Novo L509P Mutation of the TGFBI Gene Associated with Slit-Lamp Findings of Lattice Corneal Dystrophy Type IIIA

Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region

Lattice corneal dystrophy type 1: an epithelial or stromal entity?

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene

Analysis of TGFBI gene mutation in a Chinese family affected with Reis-Bucklers corneal dystrophy

Clinical and genetic features of TGFBI-linked corneal dystrophies in Mexican population: Description of novel mutations and novel genotype–phenotype correlations

Identification of two novel mutations in the cornea-specific TGFBI gene causing unique phenotypes in patients with corneal dystrophies

Molekulargenetische und histopathologische Untersuchungen zur Genotyp-Phänotyp-Analyse bei Patienten mit TGFBI-gekoppelten Hornhautdystrophien

Focus on molecules: Transforming growth factor beta induced protein (TGFBIp)

A novel phenotype-genotype correlation with an Arg555Trp mutation of TGFBI gene in Thiel-Behnke corneal dystrophy in a Chinese pedigree

Study of TGFBI gene mutations in Ukrainian patients with corneal dystrophies

Corneal dystrophies in Japan

Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy

Lattice Corneal Dystrophy: a report of two cases in twin sisters due to 3 mutations (T1620C, C1416T, A1924G) in the TGFBI (BIGH3) gene

Pathogenic mutations of TGFBI and CHST6 genes in Chinese patients with Avellino,lattice,and macular corneal dystrophies

Phenotypic non-penetrance in granular corneal dystrophy type II

A case of lattice corneal dystrophy due to L527R mutation in the TGFBI gene with asymmetric corneal opacity in eye laterality

Genotype-phenotype correlations in Chinese patients with TGFBI gene-linked corneal dystrophy

Novel L558P Mutation of the TGFBI Gene Found in Ukrainian Families with Atypical Corneal Dystrophy

Analyses of coding sequence point mutation and polymorphism of TGFBI gene in Chinese patients with keratoconus

Phenotype Associated with the H626P Mutation and Other Changes in the TGFBI Gene in Czech Families

Late-onset Form of Lattice Corneal Dystrophy Caused by Leu527Arg Mutation of the TGFBI Gene

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