(Q36772568)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

Reis-Bücklers corneal dystrophy

10 January 2020

main subject

1 reference

1 reference

Dandan Li

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Yanhua Qi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Li Wang

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Hui Lin

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Nan Zhou

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

Liming Zhao

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

publication date

11 July 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

volume

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

page(s)

1298-1302

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

TGFBI gene mutations in corneal dystrophies.

10 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

The molecular genetics of the corneal dystrophies--current status

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Clinical outcome of eight BIGH3-linked corneal dystrophies.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Survey of patients with granular, lattice, avellino, and Reis-Bücklers corneal dystrophies for mutations in the BIGH3 and gelsolin genes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

A common beta ig-h3 gene mutation (delta f540) in a large cohort of Sardinian Reis Bücklers corneal dystrophy patients. Mutations in brief no. 180. Online

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Advances in the molecular genetics of corneal dystrophies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Reis-Bücklers' dystrophy. A clinico-pathological study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

The dystrophy described by Reis and Bücklers. Separate entity or variant of the granular dystrophy?

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Sequence analysis and neuronal expression of fasciclin I in grasshopper and drosophila

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Phenotype associated with the H626P mutation and other changes in the TGFBI gene in Czech families

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor beta-induced (TGFBI) gene.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

[Analysis of gene mutation in Chinese patients with Reis-Bücklers corneal dystrophy].

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Case of late onset and isolated lattice corneal dystrophy with Asn544Ser (N544S) mutation of transforming growth factor beta-induced (TGFBI, BIGH3) gene

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

A model of FAS1 domain 4 of the corneal protein beta(ig)-h3 gives a clearer view on corneal dystrophies

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

BIGH3 mutation spectrum in corneal dystrophies

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2467519

[Kerato-epithelin mutation (R 555 Q) in a case of Reis-Bücklers corneal dystrophy]

20 October 2018

1 reference

12 December 2020

[Analysis of mutation of BIGH3 gene in Chinese patients with corneal dystrophies]

1 reference

12 December 2020

Lattice corneal dystrophy type III in patients with a homozygous L527R mutation in the TGFBI gene

1 reference

12 December 2020

[Autosomal dominant granular corneal dystrophy caused by a TGFBI gene mutation in a Mexican family]

1 reference

12 December 2020

R124C and R555W TGFBI mutations in Spanish families with autosomal-dominant corneal dystrophies

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18636123%20AND%20SRC:MED&resulttype=core&format=json

10 January 2020

PubMed publication ID

18636123

1 reference