Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan. (Q34166110)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22355247 AND SRC:MED&resulttype=core&format=json

23 January 2020

title

Phenotype-genotype correlations in patients with TGFBI-linked corneal dystrophies in Taiwan (English)

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23 January 2020

author name string

Yu-Chih Hou

1

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23 January 2020

I-Jong Wang

2

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23 January 2020

Cheng-Hsiang Hsiao

3

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23 January 2020

Wei-Li Chen

4

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23 January 2020

Fung-Rong Hu

5

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23 January 2020

publication date

7 February 2012

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23 January 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22355247 AND SRC:MED&resulttype=core&format=json

23 January 2020

volume

18

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23 January 2020

page(s)

362-371

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Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature

23 January 2020

cites work

1 reference

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A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer

28 July 2018

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An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

28 July 2018

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A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

28 July 2018

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A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

28 July 2018

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A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

28 July 2018

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28 July 2018

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Immunohistochemical analysis of lattice corneal dystrophies types I and II.

28 July 2018

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Reevaluation of corneal dystrophies of Bowman's layer and the anterior stroma (Reis-Bücklers and Thiel-Behnke types): a light and electron microscopic study of eight corneas and a review of the literature

28 July 2018

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Histochemistry of corneal granular dystrophy

28 July 2018

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Clinically atypical granular corneal dystrophy with pathologic features of lattice-like amyloid deposits. A study of these families

28 July 2018

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cDNA cloning and sequence analysis of beta ig-h3, a novel gene induced in a human adenocarcinoma cell line after treatment with transforming growth factor-beta

28 July 2018

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28 July 2018

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TGFBI mutational analysis in a New Zealand population of inherited corneal dystrophy patients

28 July 2018

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Arg124Cys mutation of the TGFBI gene in 2 Chinese families with Thiel-Behnke corneal dystrophy.

28 October 2018

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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

28 October 2018

1 reference

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An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283208

The TGFBI A546D mutation causes an atypical type of lattice corneal dystrophy

28 October 2018

1 reference

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28 October 2018

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TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients

28 October 2018

1 reference

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Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene

28 October 2018

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28 October 2018

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BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy

28 October 2018

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28 October 2018

1 reference

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28 October 2018

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28 October 2018

1 reference

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Two distinct kerato-epithelin mutations in Reis-Bücklers corneal dystrophy

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283208

Three autosomal dominant corneal dystrophies map to chromosome 5q

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3283208

A new mutation (A546T) of the betaig-h3 gene responsible for a French lattice corneal dystrophy type IIIA

28 October 2018

1 reference

12 December 2020

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

1 reference

12 December 2020

An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene

1 reference

12 December 2020

Linkage Mapping of Thiel–Behnke Corneal Dystrophy (CDB2) to Chromosome 10q23–q24

1 reference

12 December 2020

Leu518Pro mutation of the beta ig-h3 gene causes lattice corneal dystrophy type I

1 reference

12 December 2020

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22355247 AND SRC:MED&resulttype=core&format=json

23 January 2020

PubMed publication ID

22355247

1 reference