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Corneal dystrophies

Orphanet journal of rare diseases, 2009-02, Vol.4 (1), p.7-7, Article 7

Klintworth, Gordon K

2009

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The molecular genetics of the corneal dystrophies--current status

Frontiers in bioscience, 2003, Vol.8 (4), p.d687-713, Article 1018

Klintworth, Gordon K

2003

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

PloS one, 2011-04, Vol.6 (4), p.e18044

2011

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TGFBI gene mutations in corneal dystrophies

Human mutation, 2006-07, Vol.27 (7), p.615-625

2006

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Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.168-177

2014

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Trends in the indications for penetrating keratoplasty, 1980-2001

Cornea, 2005-10, Vol.24 (7), p.801-803

2005

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The Insoluble TGFBIp Fraction of the Cornea Is Covalently Linked via a Disulfide Bond to Type XII Collagen

Biochemistry (Easton), 2013-04, Vol.52 (16), p.2821-2827

2013

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Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

American journal of human genetics, 2010, Vol.86 (1), p.45-53

2010

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The IC3D classification of the corneal dystrophies

Cornea, 2008-12, Vol.27 Suppl 2 (Suppl 2), p.S1-S42

2008

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Morphologic features of 115 lymphomas of the orbit and ocular adnexa categorized according to the World Health Organization classification: are marginal zone lymphomas in the orbit mucosa-associated lymphoid tissue-type lymphomas?

Archives of pathology & laboratory medicine (1976), 2008-09, Vol.132 (9), p.1405-1416

2008

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A Dataset of Human Cornea Proteins Identified by Peptide Mass Fingerprinting and Tandem Mass Spectrometry

Molecular & cellular proteomics, 2005-09, Vol.4 (9), p.1406-1408

2005

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The Parameters to Establish a New Corneal Dystrophy

American journal of ophthalmology, 2011-08, Vol.152 (2), p.155-156

Klintworth, Gordon K

2011

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Proteomic Analysis of the Soluble Fraction from Human Corneal Fibroblasts with Reference to Ocular Transparency

Molecular & cellular proteomics, 2004-07, Vol.3 (7), p.660-674

2004

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Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene

Experimental eye research, 2012-03, Vol.96 (1), p.163-170

2012

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Human Phenotypically Distinct TGFBI Corneal Dystrophies Are Linked to the Stability of the Fourth FAS1 Domain of TGFBIp

The Journal of biological chemistry, 2011-02, Vol.286 (7), p.4951-4958

2011

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Focus on molecules: Transforming growth factor beta induced protein (TGFBIp)

Experimental eye research, 2008-10, Vol.87 (4), p.298-299

2008

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Genome-wide Linkage Scan in Fuchs Endothelial Corneal Dystrophy

Investigative ophthalmology & visual science, 2009-03, Vol.50 (3), p.1093-1097

2009

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Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits

Molecular vision, 2013-04, Vol.19, p.861-876

2013

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Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Human genetics, 2002-06, Vol.110 (6), p.568-577

2002

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Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy

Investigative ophthalmology & visual science, 2014-07, Vol.55 (7), p.4577-4584

2014

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Genetic screen of African Americans with Fuchs endothelial corneal dystrophy

Molecular vision, 2013-12, Vol.19, p.2508-2516

2013

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Macular Corneal Dystrophy in Saudi Arabia: A Study of 56 Cases and Recognition of a New Immunophenotype

American journal of ophthalmology, 1997-07, Vol.124 (1), p.9-18

1997

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Two Mutations in the TGFBI (BIGH3) Gene Associated with Lattice Corneal Dystrophy in an Extensively Studied Family

Investigative ophthalmology & visual science, 2004-05, Vol.45 (5), p.1382-1388

2004

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Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration first histopathology report

Ophthalmology (Rochester, Minn.), 2007-08, Vol.114 (8), p.1541-1546

2007

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Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging

Experimental eye research, 2010-01, Vol.90 (1), p.57-62

2010

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Corneal dystrophies

The molecular genetics of the corneal dystrophies--current status

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

TGFBI gene mutations in corneal dystrophies

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Trends in the indications for penetrating keratoplasty, 1980-2001

The Insoluble TGFBIp Fraction of the Cornea Is Covalently Linked via a Disulfide Bond to Type XII Collagen

Missense Mutations in TCF8 Cause Late-Onset Fuchs Corneal Dystrophy and Interact with FCD4 on Chromosome 9p

The IC3D classification of the corneal dystrophies

Morphologic features of 115 lymphomas of the orbit and ocular adnexa categorized according to the World Health Organization classification: are marginal zone lymphomas in the orbit mucosa-associated lymphoid tissue-type lymphomas?

A Dataset of Human Cornea Proteins Identified by Peptide Mass Fingerprinting and Tandem Mass Spectrometry

The Parameters to Establish a New Corneal Dystrophy

Proteomic Analysis of the Soluble Fraction from Human Corneal Fibroblasts with Reference to Ocular Transparency

Composition and proteolytic processing of corneal deposits associated with mutations in the TGFBI gene

Human Phenotypically Distinct TGFBI Corneal Dystrophies Are Linked to the Stability of the Fourth FAS1 Domain of TGFBIp

Focus on molecules: Transforming growth factor beta induced protein (TGFBIp)

Genome-wide Linkage Scan in Fuchs Endothelial Corneal Dystrophy

Serine protease HtrA1 accumulates in corneal transforming growth factor beta induced protein (TGFBIp) amyloid deposits

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

Mitochondrial polymorphism A10398G and Haplogroup I are associated with Fuchs' endothelial corneal dystrophy

Genetic screen of African Americans with Fuchs endothelial corneal dystrophy

Macular Corneal Dystrophy in Saudi Arabia: A Study of 56 Cases and Recognition of a New Immunophenotype

Two Mutations in the TGFBI (BIGH3) Gene Associated with Lattice Corneal Dystrophy in an Extensively Studied Family

Sveinsson chorioretinal atrophy/helicoid peripapillary chorioretinal degeneration first histopathology report

Differential expression and processing of transforming growth factor beta induced protein (TGFBIp) in the normal human cornea during postnatal development and aging

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