Genetics of corneal endothelial dystrophies (Q37678805)

21 August 2017

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title

Genetics of corneal endothelial dystrophies (English)

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21 August 2017

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Chitra Kannabiran

1

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21 August 2017

publication date

1 December 2009

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21 August 2017

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21 August 2017

volume

88

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21 August 2017

issue

4

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21 August 2017

page(s)

487-494

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The Clinical Spectrum of Posterior Polymorphous Dystrophy

21 August 2017

cites work

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Crossref

https://api.crossref.org/works/10.1007%2FS12041-009-0067-1

Inheritance of Fuchs' Combined Dystrophy

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS12041-009-0067-1

DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages

21 January 2018

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12 December 2020

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

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12 December 2020

Genetic analysis of two Indian families affected with congenital hereditary endothelial dystrophy: two novel mutations in SLC4A11

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12 December 2020

Histopathological diagnosis of corneal button specimens: an epidemiological study

1 reference

12 December 2020

H244R VSX1 is associated with selective cone ON bipolar cell dysfunction and macular degeneration in a PPCD family

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12 December 2020

No pathogenic mutations identified in the COL8A2 gene or four positional candidate genes in patients with posterior polymorphous corneal dystrophy

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12 December 2020

Changing indications for penetrating keratoplasty in Taiwan from 1987 to 1999.

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12 December 2020

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

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12 December 2020

Trends in penetrating keratoplasty in the United States 1980-2005.

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12 December 2020

Corneal dystrophies among patients undergoing keratoplasty in Saudi Arabia

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12 December 2020

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

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12 December 2020

Frequency, distribution, and outcome of keratoplasty for corneal dystrophies at a tertiary eye care center in South India

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutational spectrum of SLC4A11 in autosomal recessive CHED in Saudi Arabia

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12 December 2020

Slc4a11 gene disruption in mice: cellular targets of sensorineuronal abnormalities

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12 December 2020

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

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12 December 2020

Exclusion of AR-CHED from the chromosome 20 region containing the PPMD and AD-CHED loci

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12 December 2020

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

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12 December 2020

Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy

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12 December 2020

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

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12 December 2020

The biochemical effects of physiologic amounts of dietary boron in animal nutrition models

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12 December 2020

SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Genome-wide linkage scan in fuchs endothelial corneal dystrophy

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12 December 2020

The IC3D classification of the corneal dystrophies

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12 December 2020

VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Molecular expression of SLC4-derived Na+-dependent anion transporters in selected human tissues

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12 December 2020

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

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12 December 2020

Linkage of posterior polymorphous corneal dystrophy to 20q11

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12 December 2020

Posterior polymorphous corneal dystrophy is associated with TCF8 gene mutations and abdominal hernia.

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Congenital hereditary corneal oedema of Maumenee: its clinical features, management, and pathology

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12 December 2020

The corneal endothelium. Normal and pathologic structure and function

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12 December 2020

Impact of boron deficiency on Xenopus laevis: a summary of biological effects and potential biochemical roles

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12 December 2020

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

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12 December 2020

Genetic analysis of chromosome 20-related posterior polymorphous corneal dystrophy: genetic heterogeneity and exclusion of three candidate genes

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12 December 2020

Zeb1 mutant mice as a model of posterior corneal dystrophy

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12 December 2020

Exclusion of positional candidate gene coding region mutations in the common posterior polymorphous corneal dystrophy 1 candidate gene interval

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12 December 2020

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

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12 December 2020

Human BTR1, a new bicarbonate transporter superfamily member and human AE4 from kidney

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12 December 2020

A new, X-linked endothelial corneal dystrophy

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12 December 2020

NaBC1 is a ubiquitous electrogenic Na+ -coupled borate transporter essential for cellular boron homeostasis and cell growth and proliferation

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12 December 2020

Candidate gene screening for posterior polymorphous dystrophy.

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12 December 2020

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12 December 2020

A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

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12 December 2020

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

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12 December 2020

Linkage of a mild late-onset phenotype of Fuchs corneal dystrophy to a novel locus at 5q33.1-q35.2.

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12 December 2020

Clinical phenotype of posterior polymorphous corneal dystrophy in a family with a novel ZEB1 mutation.

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12 December 2020

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

1 reference

12 December 2020

10.1007/S12041-009-0067-1

Identifiers

DOI

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21 August 2017

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