(Q33804710)

29 July 2017

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title

Advances in the molecular genetics of corneal dystrophies (English)

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29 July 2017

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Klintworth GK

1

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PubMed ID

10612512

29 July 2017

language of work or name

English

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publication date

1 December 1999

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American Journal of Ophthalmology

29 July 2017

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29 July 2017

128

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29 July 2017

6

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29 July 2017

747-754

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

29 July 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Mutation hot spots in 5q31-linked corneal dystrophies

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Increased expression of fibrillin-1 in human corneas with bullous keratopathy.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Homogeneity of kerato-epithelin codon 124 mutations in Japanese patients with either of two types of corneal stromal dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

A novel mutation at codon 124 (R124L) in the BIGH3 gene is associated with a superficial variant of granular corneal dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Lattice corneal dystrophy type 1 in a Canadian kindred is associated with the Arg124 --> Cys mutation in the kerato-epithelin gene. sgupta@ogh.on.ca

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

[Type I lattice corneal dystrophy. Clinical and molecular genetic study of a large family]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

A kerato-epithelin (betaig-h3) mutation in lattice corneal dystrophy type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Amyloid and Pro501 Thr-mutated (beta)ig-h3 gene product colocalize in lattice corneal dystrophy type IIIA

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

A new L527R mutation of the betaIGH3 gene in patients with lattice corneal dystrophy with deep stromal opacities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Gelsolin–derived familial amyloidosis caused by asparagine or tyrosine substitution for aspartic acid at residue 187

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Familial amyloidosis, Finnish type: G654----a mutation of the gelsolin gene in Finnish families and an unrelated American family

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV)

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Characterization of point mutations in patients with X-linked ichthyosis. Effects on the structure and function of the steroid sulfatase protein

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

The gene for schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Coexistence of macular corneal dystrophy types I and II in a single sibship

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Linkage of posterior polymorphous corneal dystrophy to 20q11

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

MEESMANN'S CORNEAL DYSTROPHY. A PATHOLOGICAL STUDY

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

beta ig-h3: a transforming growth factor-beta-responsive gene encoding a secreted protein that inhibits cell attachment in vitro and suppresses the growth of CHO cells in nude mice

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Immunolocalization of beta ig-h3 protein in 5q31-linked corneal dystrophies and normal corneas

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Clinically Atypical Granular Corneal Dystrophy with Pathologic Features of Lattice-like Amyloid Deposits

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Reevaluation of Corneal Dystrophies of Bowman??s Layer and the Anterior Stroma (Reis-B??cklers and Thiel-Behnke Types): A Light and Electron Microscopic Study of Eight Corneas and a Review of the Literature

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Clinical features of a newly recognized type of lattice corneal dystrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Lattice corneal dystrophy type IIIA. Clinical and histopathologic correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

[Unilateral type III (Hida) lattice stromal corneal dystrophy]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

[Cornea verticillata (Gruber) and its relation to Fabry's disease (angiokeratoma corporis diffusum)]

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Clinical pathologic correlation of superficial corneal opacities in X-linked ichthyosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Corneal immunoglobulin deposition in the posterior stroma. A case report including immunohistochemical and ultrastructural observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Chromosomal mapping and expression of the human B120 gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Reis-Bücklers dystrophy: a study of eight cases

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

Mapping of Reis-Bücklers' corneal dystrophy to chromosome 5q.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0002-9394%2899%2900358-X

10.1016/S0002-9394(99)00358-X

7 January 2021

Identifiers

DOI

1 reference

release_xhxlz33sszealayjiqd54ajvey

29 July 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/xhxlz33sszealayjiqd54ajvey

mapped directly with Wikidata item

24 November 2022

based on heuristic

PubMed ID

10612512

1 reference

PubMed ID

10612512