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

Molecular testing for hereditary retinal disease as part of clinical care.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Feb 2007

Downs Katy, Zacks David N, Caruso Rafael, Karoukis Athanasios J, Branham Kari, Yashar Beverly M, Haimann Mark H, Trzupek Karmen, Meltzer Meira, Blain Delphine, Richards Julia E, Weleber Richard G, Heckenlively John R, Sieving Paul A, Ayyagari Radha

Abstract excerpt

OBJECTIVE: To describe clinical molecular testing for hereditary retinal degenerations, highlighting results, interpretation, and patient education. METHODS: Mutation analysis of 8 retinal genes was performed by dideoxy sequencing. Pretest and posttest genetic counseling was offered to patients. The laboratory report listed results and provided individualized interpretation. RESULTS: A total of 350 tests were...

Read the complete abstract on PubMed

Topics

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

Share to Bestrophins
Share to Chloride Channels

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intermediate Filament Proteins

Share to Molecular Diagnostic Techniques

Share to Patient Education as Topic

Share to Peripherins

Share to Retinal Degeneration

Share to Tissue Inhibitor of Metalloproteinase-3

Source

Identifiers

PMID: 17296903
DOI: 10.1001/archopht.125.2.252

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular testing for hereditary retinal disease as part of clinical care.PMID 17296903Read ↗

The current status of molecular diagnosis of inherited retinal dystrophies.Semantic proximity Read ↗

Genetic testing and diagnosis of inherited retinal diseases.Semantic proximity Read ↗

Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.Semantic proximity Read ↗

Genetic testing for inherited retinal degenerations: Triumphs and tribulations.Semantic proximity Read ↗

Molecular genetic diagnostics for inherited retinal dystrophies in the clinical setting.Semantic proximity Read ↗

From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Semantic proximity Read ↗

The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Semantic proximity Read ↗

Clinically Focused Molecular Investigation of 1000 Consecutive Families with Inherited Retinal Disease.Semantic proximity Read ↗

The Current State of Genetic Testing Platforms for Inherited Retinal Diseases.Semantic proximity Read ↗

Genetic Diagnosis for 64 Patients with Inherited Retinal Disease.Semantic proximity Read ↗

Next generation sequencing using phenotype-based panels for genetic testing in inherited retinal diseases.Semantic proximity Read ↗

High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.Semantic proximity Read ↗

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