(Q21093170)

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Corneal dystrophies

scientific article

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scholarly article

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25 April 2019

Corneal dystrophies (English)

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corneal dystrophy

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25 April 2019

Gordon K. Klintworth

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author given names

Gordon K

author last names

Klintworth

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Gordon K Klintworth

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Dimensions Publication ID

15 August 2022

language of work or name

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publication date

23 February 2009

3 references

5 March 2019

22 April 2019

25 April 2019

Orphanet Journal of Rare Diseases

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5 March 2019

22 April 2019

25 April 2019

4

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1

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7

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copyright license

Creative Commons Attribution 2.0 Generic

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Europe PubMed Central

5 March 2019

Europe PubMed Central

22 April 2019

Europe PubMed Central

25 April 2019

copyright status

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on focus list of Wikimedia project

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The IC3D classification of the corneal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Autosomal recessive corneal endothelial dystrophy (CHED2) is associated with mutations in SLC4A11

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Homozygosity mapping and linkage analysis demonstrate that autosomal recessive congenital hereditary endothelial dystrophy (CHED) and autosomal dominant CHED are genetically distinct

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Homozygosity mapping of a gene responsible for gelatinous drop-like corneal dystrophy to chromosome 1p.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Mutation hot spots in 5q31-linked corneal dystrophies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Zeb1 mutant mice as a model of posterior corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Congenital stromal dystrophy of the cornea caused by a mutation in the decorin gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Mutations in corneal carbohydrate sulfotransferase 6 gene (CHST6) cause macular corneal dystrophy in Iceland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 March 2017

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Analysis of conjunctival fibroblasts from a proband with Schnyder corneal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Visual morbidity in thirty-four families with Schnyder crystalline corneal dystrophy (an American Ophthalmological Society thesis)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Exacerbation of granular corneal dystrophy type II (Avellino corneal dystrophy) after LASEK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Mutational spectrum of the SLC4A11 gene in autosomal recessive congenital hereditary endothelial dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Autosomal recessive CHED associated with novel compound heterozygous mutations in SLC4A11.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Novel SLC4A11 mutations in patients with recessive congenital hereditary endothelial dystrophy (CHED2). Mutation in brief #958. Online

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

CHST6 mutations in North American subjects with macular corneal dystrophy: a comprehensive molecular genetic review.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

A new, X-linked endothelial corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

First genetic analysis of lattice corneal dystrophy type I in a family from Bulgaria.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Avellino corneal dystrophy after LASIK.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

A rare form of hereditary epithelial dystrophy of the cornea: a genetic, clinical, and pathologic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

The molecular genetics of the corneal dystrophies--current status

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Alteration of the ocular surface with recurrence of granular/avellino corneal dystrophy after phototherapeutic keratectomy: report of five cases and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Lisch corneal dystrophy is genetically distinct from Meesmann corneal dystrophy and maps to xp22.3.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Quantitative analysis of lipid deposits from Schnyder's corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Accumulation of beta ig-h3 gene product in corneas with granular dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Subepithelial mucinous corneal dystrophy. Clinical and pathological correlations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

A hitherto unknown subepithelial hereditary corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Meesman's corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Granular corneal dystrophy Groenouw type I (GrI) and Reis-Bücklers' corneal dystrophy (R-B). One entity?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

A new, band-shaped and whorled microcystic dystrophy of the corneal epithelium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Clinical Differentiation of Recessive Congenital Hereditary Endothelial Dystrophy and Dominant Hereditary Endothelial Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Posterior polymorphous keratopathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Posterior Amorphous Corneal Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Reis-Bücklers dystrophy: a study of eight cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

12 September 2017

Fuchs' endothelial dystrophy of the cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Clinical and histopathologic features of corneal dystrophies in Japan

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Corneal endothelial dystrophy. A study of 64 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

The Clinical Spectrum of Posterior Polymorphous Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Meesmann'S Epithelial Dystrophy of the Cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Unusual Superficial Variant of Granular Dystrophy of the Cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

A Clinical and Histopathological Study of François-Neetens Speckled Corneal Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Fleck corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

27 September 2017

Immunophenotypes of macular corneal dystrophy in India and correlation with mutations in CHST6.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

MACULAR CORNEAL DYSTROPHY. AN INHERITED ACID MUCOPOLYSACCHARIDE STORAGE DISEASE OF THE CORNEAL FIBROBLAST.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Electron microscopic study of hereditary corneal edema

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Familial systemic paramyloidosis with lattice dystrophy of the cornea, progressive cranial neuropathy, skin changes and various internal symptoms. A previously unrecognized heritable syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Lattice corneal dystrophy. An inherited variety of amyloidosis restricted to the cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Macular corneal dystrophy. Lack of keratan sulfate in serum and cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Quantification of keratan sulfate in blood as a marker of cartilage catabolism

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Macular corneal dystrophy in Iceland

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Granular corneal dystrophy Groenouw type I. 115 Danish patients. An epidemiological and genetic population study.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

The pathology of posterior amorphous corneal dystrophy

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

https://api.crossref.org/works/10.1186%2F1750-1172-4-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Ultrastructural variation in granular dystrophy of the cornea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Clinicopathologic case report: ultrastructure of the epithelial dystrophy of Meesmann

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

30 May 2018

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

19 June 2018

A new corneal disease with recurrent erosive episodes and autosomal-dominant inheritance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Dystrophia Helsinglandica: a new type of hereditary corneal recurrent erosions with late subepithelial fibrosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Identification of mutations in the SLC4A11 gene in patients with recessive congenital hereditary endothelial dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Mutation in the SLC4A11 gene associated with autosomal recessive congenital hereditary endothelial dystrophy in a large Saudi family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

SLC4A11 mutations 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=2695576

29 November 2018

A second decorin frame shift mutation in a family with congenital stromal corneal dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Posterior Polymorphous Corneal Dystrophy in Czech Families Maps to Chromosome 20 and Excludes theVSX1Gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Polymorphic corneal amyloidosis: a disorder due to a novel mutation in the transforming growth factor beta-induced (BIGH3) gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

An immunohistochemical analysis and comparison of posterior polymorphous dystrophy with congenital hereditary endothelial dystrophy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Subepithelial amyloid deposits in congenital hereditary endothelial dystrophy: a histopathologic study of five cases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Schnyder's dystrophy of the cornea. A Swede-Finn connection

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2695576

29 November 2018

Primary hereditary band-shaped corneal dystrophy and its association with other hereditary corneal lesions (author's transl)

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Granular dystrophy of the cornea. Characteristic electron microscopic lesion

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gelatinous drop-like dystrophy. A form of primary corneal amyloidosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Unusual superficial confluent form of granular corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of normal keratan sulfate in the blood of patients with macular corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparison between posterior polymorphous dystrophy and congenital hereditary endothelial dystrophy of the cornea

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Granular corneal dystrophy Groenouw type I. Clinical aspects and treatment

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Avellino Corneal Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gelsolin immunoreactivity in corneal amyloid, wound healing, and macular and granular dystrophies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Band-shaped, whorled microcystic corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Panstromal Schnyder corneal dystrophy. A clinical pathologic report with quantitative analysis of corneal lipid composition

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of posterior polymorphous corneal dystrophy to 20q11

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Posterior amorphous corneal dystrophy. A new pedigree with phenotypic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macular corneal dystrophy in Iceland. A clinical, genealogic, and immunohistochemical study of 28 patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of HDL apolipoproteins accompanies abnormal cholesterol accumulation in Schnyder's corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Beta ig-h3 is synthesized by corneal epithelium and perhaps endotheliumin Fuchs' dystrophic corneas

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Macular corneal dystrophy in Saudi Arabia: a study of 56 cases and recognition of a new immunophenotype

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage mapping of Thiel-Behnke corneal dystrophy (CDB2) to chromosome 10q23-q24

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corneal amyloidosis associated with congenital hereditary endothelial dystrophy.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Band-shaped and whorled microcystic dystrophy of the corneal epithelium

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistology of kerato-epithelin in corneal stromal dystrophies associated with R124 mutations of the BIGH3 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Histologic phenotype-genotype correlation of corneal dystrophies associated with eight distinct mutations in the TGFBI gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Rare form of hereditary epithelial dystrophy of the cornea; genetic, clinical, and pathologic study

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A family history of corneal erosions

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In vivo confocal microscopy findings in a patient with posterior amorphous corneal dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunohistochemical characterization of cytokeratins in the abnormal corneal endothelium of posterior polymorphous corneal dystrophy patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Granular corneal dystrophy manifesting after radial keratotomy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Keratoglobus in association with posterior polymorphous dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hereditary recurring corneal erosions. A familial study with special reference to Fuchs' dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Dystrophia corneae parenchymatosa congenita. A clinical, morphological and histochemical examination

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Electron microscopy of posterior polymorphous degeneration

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Comparative histopathological and clinical findings in eyes with lattice corneal dystrophy of two different types

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Affected Asymptomatic Relatives in Congenital Hereditary Endothelial Dystrophy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Granular dystrophy of the cornea. Light and electron microscopic confirmation of recurrence in a graft

1 reference

https://pubmed.ncbi.nlm.nih.gov/19236704

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

MEESMANN'S CORNEAL DYSTROPHY. A PATHOLOGICAL STUDY

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-4-7

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1186/1750-1172-4-7

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

0 references

Sitelinks

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Wikisource(0 entries)

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