(Q38179067)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

title

Corneal dystrophies and genetics in the International Committee for Classification of Corneal Dystrophies era: a review (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

author name string

Andrea L Vincent

series ordinal

1

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30 August 2017

publication date

31 July 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

Clinical and Experimental Ophthalmology

5 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

volume

42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

page(s)

4-12

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

Three autosomal dominant corneal dystrophies map to chromosome 5q

5 March 2020

cites work

1 reference

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

21 January 2018

1 reference

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

21 January 2018

1 reference

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval

21 January 2018

1 reference

High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation

21 January 2018

1 reference

H626R and R124C mutations of the TGFBI (BIGH3) gene caused lattice corneal dystrophy in Vietnamese people

21 January 2018

1 reference

Two cases of Reis-Bücklers corneal dystrophy (granular corneal dystrophy type III) caused by spontaneous mutations in the TGFBI gene.

21 January 2018

1 reference

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy.

21 January 2018

1 reference

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

21 January 2018

1 reference

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

21 January 2018

1 reference

Linkage of late-onset Fuchs corneal dystrophy to a novel locus at 13pTel-13q12.13.

21 January 2018

1 reference

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

21 January 2018

1 reference

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.

21 January 2018

1 reference

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

21 January 2018

1 reference

Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.

21 January 2018

1 reference

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

21 January 2018

1 reference

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells

21 January 2018

1 reference

Analysis of COL8A2 gene mutation in Japanese patients with Fuchs' endothelial dystrophy and posterior polymorphous dystrophy

21 January 2018

1 reference

Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.

21 January 2018

1 reference

Avellino corneal dystrophy after LASIK.

21 January 2018

1 reference

Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy

21 January 2018

1 reference

Possible genomic imprinting of three human obesity-related genetic loci

21 January 2018

1 reference

Independent confirmation of a major locus for obesity on chromosome 10.

21 January 2018

1 reference

A locus affecting obesity in human chromosome region 10p12.

21 January 2018

1 reference

The ZEB1 transcription factor is a novel repressor of adiposity in female mice

21 January 2018

1 reference

Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration

21 January 2018

1 reference

E2-2 protein and Fuchs's corneal dystrophy

21 January 2018

1 reference

Replication of TCF4 through association and linkage studies in late-onset Fuchs endothelial corneal dystrophy

21 January 2018

1 reference

Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus

21 January 2018

1 reference

A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts Fuchs corneal dystrophy

21 January 2018

1 reference

Differing roles for TCF4 and COL8A2 in central corneal thickness and fuchs endothelial corneal dystrophy

21 January 2018

1 reference

Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process

21 January 2018

1 reference

Missense mutations in the sodium borate cotransporter SLC4A11 cause late-onset Fuchs corneal dystrophy

21 January 2018

1 reference

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

21 January 2018

1 reference

A cellular model for the investigation of Fuchs' endothelial corneal dystrophy

21 January 2018

1 reference

A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies

21 January 2018

1 reference

Oligomerization of SLC4A11 protein and the severity of FECD and CHED2 corneal dystrophies caused by SLC4A11 mutations

21 January 2018

1 reference

Mutations in LOXHD1, a recessive-deafness locus, cause dominant late-onset Fuchs corneal dystrophy

21 January 2018

1 reference

Hearing disability in patients with Fuchs' endothelial corneal dystrophy: unrecognized co-pathology?

21 January 2018

1 reference

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

21 January 2018

1 reference

SLC4A11 prevents osmotic imbalance leading to corneal endothelial dystrophy, deafness, and polyuria.

21 January 2018

1 reference

Franceschetti hereditary recurrent corneal erosion

21 January 2018

1 reference

Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

21 January 2018

1 reference

New loci associated with central cornea thickness include COL5A1, AKAP13 and AVGR8.

21 January 2018

1 reference

Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome

21 January 2018

1 reference

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus

21 January 2018

1 reference

Insights into keratoconus from a genetic perspective

21 January 2018

1 reference

Allele-specific siRNA silencing for the common keratin 12 founder mutation in Meesmann epithelial corneal dystrophy

21 January 2018

1 reference

21 January 2018

1 reference

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

21 January 2018

1 reference

Linkage of posterior polymorphous corneal dystrophy to 20q11

21 January 2018

1 reference

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

21 January 2018

1 reference

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

21 January 2018

1 reference

Heavy-Chain Amyloidosis in TGFBI-Negative and Gelsolin-Negative Atypical Lattice Corneal Dystrophy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/CEO.12149

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24433354%20AND%20SRC:MED&resulttype=core&format=json

5 March 2020

1 reference