(Q73738862)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

P Dighiero

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

F Niel

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

P Ellies

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

F D'Hermies

4

1 reference

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6 November 2019

M Savoldelli

5

1 reference

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6 November 2019

G Renard

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M Delpech

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Valleix

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

publication date

1 April 2001

1 reference

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6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

108

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

818-823

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

Advances in the molecular genetics of corneal dystrophies

6 November 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

A new clinical perspective of corneal dystrophies through molecular genetics

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Clinical, histologic, and ultrastructural features of the corneal dystrophy caused by the R124L mutation of the BIGH3 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

A novel variant of granular corneal dystrophy caused by association of 2 mutations in the TGFBI gene-R124L and DeltaT125-DeltaE126.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Clinical and histopathologic features of corneal dystrophies in Japan

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Reevaluation of Corneal Dystrophies of Bowman??s Layer and the Anterior Stroma (Reis-B??cklers and Thiel-Behnke Types): A Light and Electron Microscopic Study of Eight Corneas and a Review of the Literature

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Clinically Atypical Granular Corneal Dystrophy with Pathologic Features of Lattice-like Amyloid Deposits

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Avellino Corneal Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Increased expression of fibrillin-1 in human corneas with bullous keratopathy.

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

Superficial Juvenile Granular Dystrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0161-6420%2800%2900662-X

7 January 2021

10.1016/S0161-6420(00)00662-X

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11297504%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference