Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India (Q33711762)

28 July 2017

Genetic analysis of patients with Fuchs endothelial corneal dystrophy in India (English)

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28 July 2017

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Boomiraj Hemadevi

1

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28 July 2017

Muthiah Srinivasan

2

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28 July 2017

Jambulingam Arunkumar

3

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28 July 2017

Namperumalsamy V Prajna

4

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28 July 2017

Periasamy Sundaresan

5

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28 July 2017

10 February 2010

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28 July 2017

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28 July 2017

10

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28 July 2017

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https://scigraph.springernature.com/pub.10.1186/1471-2415-10-3

28 July 2017

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cites work

Genome-wide linkage scan in fuchs endothelial corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

British family with early-onset Fuchs' endothelial corneal dystrophy associated with p.L450W mutation in the COL8A2 gene.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Immunohistochemistry and electron microscopy of early-onset fuchs corneal dystrophy in three cases with the same L450W COL8A2 mutation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Exclusion of COL8A1, the gene encoding the alpha2(VIII) chain of type VIII collagen, as a candidate for Fuchs endothelial dystrophy and posterior polymorphous corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

No pathogenic mutations identified in the COL8A1 and COL8A2 genes in familial Fuchs corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Fuchs' endothelial dystrophy of the cornea

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Hereditary Fuchs' Dystrophy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

A simple salting out procedure for extracting DNA from human nucleated cells

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

Corneal endothelial dystrophy. A study of 64 families

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2834660

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

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-10-3

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

https://api.crossref.org/works/10.1186%2F1471-2415-10-3

Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-10-3

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-10-3

A Common Locus for Late-Onset Fuchs Corneal Dystrophy Maps to 18q21.2-q21.32

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2415-10-3

The corneal endothelium. Normal and pathologic structure and function

21 January 2018

1 reference

12 December 2020

Classification of corneal endothelial disorders based on neural crest origin

1 reference

12 December 2020

Immunogold fine structural localization of extracellular matrix components in aged human cornea. I. Types I-IV collagen and laminin

1 reference

12 December 2020

The composition of wide-spaced collagen in normal and diseased Descemet's membrane

1 reference

12 December 2020

Analysis of the posterior polymorphous corneal dystrophy 3 gene, TCF8, in late-onset Fuchs endothelial corneal dystrophy

1 reference

12 December 2020

Inheritance of Fuchs' Endothelial Dystrophy

1 reference

12 December 2020

Identifiers

DOI

10.1186/1471-2415-10-3

1 reference

Dimensions Publication ID

28 July 2017

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2415-10-3

9 September 2019

1 reference

28 July 2017

1 reference