Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.

Ophthalmic research - 1 Jan 2000

El-Ashry Mohamed Farouk, Abd El-Aziz Mai Mohamed, Hardcastle Alison J, Bhattacharya Shomi S, Ebenezer Neil D

Abstract excerpt

AIMS: To identify the underlying mutations in our British families and sporadic patients with different types of corneal dystrophies (CDs) and to establish a phenotype-genotype correlation. METHODS: Twenty-nine patients, 9 sporadic and 20 patients from 7 families were subjected to both clinical and genetic examination. Slit lamp examination was performed for all patients who participated in the study to assess...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Corneal Dystrophies, Hereditary
Share to Corneal Stroma

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Extracellular Matrix Proteins

Share to Genes, Dominant

Share to Molecular Biology

Share to Transforming Growth Factor beta

Share to United Kingdom

Source

Identifiers

PMID: 16118514
DOI: 10.1159/000087791

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A clinical and molecular genetic study of autosomal-dominant stromal corneal dystrophy in British population.PMID 16118514Read ↗

BIGH3 mutation spectrum in corneal dystrophies.Semantic proximity Read ↗

A clinical, histopathological, and genetic study of Avellino corneal dystrophy in British families.Semantic proximity Read ↗

An analysis of BIGH3 mutations in patients with corneal dystrophies in the Kyushu district of Japan.Semantic proximity Read ↗

BIGH3 mutation in a Bangladeshi family with a variable phenotype of LCDI.Semantic proximity Read ↗

BIGH3 gene analysis in the differential diagnosis of corneal dystrophies.Semantic proximity Read ↗

Spontaneous and inheritable R555Q mutation in the TGFBI/BIGH3 gene in two unrelated families exhibiting Bowman's layer corneal dystrophy.Semantic proximity Read ↗

Association of autosomal dominantly inherited corneal dystrophies with BIGH3 gene mutations in Japan.Semantic proximity Read ↗

BIGH3 gene mutations and rapid detection in Korean patients with corneal dystrophy.Semantic proximity Read ↗

Genetics of corneal dystrophies: the evolving landscape.Semantic proximity Read ↗

[Molecular genetic analysis of the BIGH3 gene in lattice type I (Biber-Haab-Dimmer) and granular type II (Avellino) corneal dystrophy: is indirect mutation analysis for hot spots recommended?].Semantic proximity Read ↗

Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.Semantic proximity Read ↗

An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.