(Q35156998)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

title

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

author name string

M F El-Ashry

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

M M Abd El-Aziz

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

D F P Larkin

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

B Clarke

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

I A Cree

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

S S Bhattacharya

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

N D Ebenezer

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

language of work or name

English

0 references

publication date

1 July 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

British Journal of Ophthalmology

4 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

volume

87

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

page(s)

839-842

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

Corneal guttata associated with the corneal dystrophy resulting from a betaig-h3 R124H mutation

4 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Mutation hot spots in 5q31-linked corneal dystrophies

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Granular-lattice (Avellino) corneal dystrophy in Japanese patients.

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Combined granular lattice dystrophy (Avellino corneal dystrophy)

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Clinical and histopathologic features of corneal dystrophies in Japan

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Histochemistry of corneal granular dystrophy

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

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

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Varied appearance of cornea of patients with corneal dystrophy associated with R124H mutation in the BIGH3 gene

13 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1771747

Superficial granular corneal dystrophy with amyloid deposits

27 September 2018

1 reference

12 December 2020

Avellino Corneal Dystrophy

1 reference

12 December 2020

Phenotypic variation in combined granular-lattice (Avellino) corneal dystrophy

1 reference

12 December 2020

Avellino corneal dystrophy

1 reference

12 December 2020

Severe corneal dystrophy phenotype caused by homozygous R124H keratoepithelin mutations

1 reference

12 December 2020

BIGH3 exon 14 mutations lead to intermediate type I/IIIA of lattice corneal dystrophies

1 reference

12 December 2020

[Avellino dystrophy. Current diagnostic criteria]

1 reference

12 December 2020

Granular dystrophy of the cornea. Characteristic electron microscopic lesion

1 reference

12 December 2020

Keratoconus and bilateral lattice-granular corneal dystrophies

1 reference

12 December 2020

Identifiers

DOI

10.1136/BJO.87.7.839

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12812879%20AND%20SRC:MED&resulttype=core&format=json

4 November 2019

PubMed publication ID

12812879

1 reference