Inherited corneal disease: the evolving molecular, genetic and imaging revolution (Q36149134)

12 August 2017

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title

Inherited corneal disease: the evolving molecular, genetic and imaging revolution (English)

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12 August 2017

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3

Charles N J McGhee

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12 August 2017

Andrea L Vincent

1

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PubMed ID

15932539

12 August 2017

Dipika V Patel

series ordinal

2

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12 August 2017

1 June 2005

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Clinical and Experimental Ophthalmology

12 August 2017

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12 August 2017

33

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12 August 2017

3

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12 August 2017

303-316

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A new clinical perspective of corneal dystrophies through molecular genetics

12 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A molecular perspective on corneal dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A novel keratin 12 mutation in a German kindred with Meesmann's corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Assignment of TACSTD1 (alias TROP1, M4S1) to human chromosome 2p21 and refinement of mapping of TACSTD2 (alias TROP2, M1S1) to human chromosome 1p32 by in situ hybridization

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Identification of the gene responsible for gelatinous drop-like corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Epithelial barrier function and ultrastructure of gelatinous drop-like corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Altered fine structures of corneal and skeletal keratan sulfate and chondroitin/dermatan sulfate in macular corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

In vivo confocal microscopy and genotyping of a family with Thiel-Behnke (honeycomb) corneal dystrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Plasma and cytoplasmic gelsolins are encoded by a single gene and contain a duplicated actin-binding domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Finnish hereditary amyloidosis is caused by a single nucleotide substitution in the gelsolin gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Elucidating the mechanism of familial amyloidosis- Finnish type: NMR studies of human gelsolin domain 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Morphological evaluation of Schnyder's central crystalline dystrophy by confocal microscopy before and after phototherapeutic keratectomy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Microstructural assessment of rare corneal dystrophies using real-time in vivo confocal microscopy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

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

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Corneal dystrophies. II. Endothelial dystrophies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

The Clinical Spectrum of Posterior Polymorphous Dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

The cloning of mouse keratocan cDNA and genomic DNA and the characterization of its expression during eye development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Mutations in KERA, encoding keratocan, cause cornea plana

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Protection by pyruvate of rat retinal cells against zinc toxicity in vitro, and pressure-induced ischemia in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

The genetics of keratoconus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Computer-assisted corneal topography in family members of patients with keratoconus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Genetic epidemiological study of keratoconus: evidence for major gene determination

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A 48-year clinical and epidemiologic study of keratoconus

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1442-9071.2005.01011.X

10.1111/J.1442-9071.2005.01011.X

21 January 2018

Identifiers

DOI

1 reference

12 August 2017

1 reference

PubMed ID

15932539