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

Finding and interpreting genetic variations that are important to ophthalmologists.

Transactions of the American Ophthalmological Society - 1 Jan 2003

Stone Edwin M

Abstract excerpt

PURPOSE: To explore two approaches for making the human genome more accessible and useful to practicing ophthalmologists. METHODS: DNA samples were obtained from patients with inherited eye diseases, and these samples were screened for sequence variations in known disease genes with a combination of single-strand conformational polymorphism analysis and automated DNA sequencing. Data from this screening were then...

Read the complete abstract on PubMed

Topics

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

Share to DNA
Share to Eye Diseases
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Variation

Share to Genome, Human

Share to Polymorphism, Genetic

Share to Probability

Source

Open in PubMed Open full text

Identifiers

PMID: 14971589
PMCID: PMC1359000

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 · 8 closest

Finding and interpreting genetic variations that are important to ophthalmologists.PMID 14971589Read ↗

Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority.Semantic proximity Read ↗

Protein modeling and in silico analysis to assess pathogenicity of ABCA4 variants in patients with inherited retinal disease.Semantic proximity Read ↗

Structure-based network analysis predicts mutations associated with inherited retinal diseaseSemantic proximity Read ↗

Reliability of clinical impressions and optimal genetic diagnostic strategies of heritable connective tissue disorders with ocular involvement in a large Chinese cohort.Semantic proximity Read ↗

Application of in silico positional cloning and bioinformatic mutation analysis to the study of eye diseases.Semantic proximity Read ↗

A Computational Approach From Gene to Structure Analysis of the Human ABCA4 Transporter Involved in Genetic Retinal Diseases.Semantic proximity Read ↗

Nonrandom Distribution of miRNAs Genes and Single Nucleotide Variants in Keratoconus Loci.Semantic proximity Read ↗

Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disordersSemantic proximity Read ↗

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