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

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 1994

Joos K M, Kimura A E, Vandenburgh K, Bartley J A, Stone E M

Abstract excerpt

OBJECTIVE: To diagnose the carriers and noncarriers in a family affected with Norrie disease based on molecular analysis. DESIGN: Family members from three generations, including one affected patient, two obligate carriers, one carrier identified with linkage analysis, one noncarrier identified with linkage analysis, and one female family member with indeterminate carrier status, were examined clinically and...

Topics

Adult
Blindness
Child
Child, Preschool
Electroretinography
Female
Genes, Recessive
Genetic Linkage
Heterozygote
Humans
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Polymorphism, Restriction Fragment Length

Retina

X Chromosome

Source

Identifiers

PMID: 7993212
DOI: 10.1001/archopht.1994.01090240080029

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7993212-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.PMID 7993212Read ↗

Correlation of ophthalmic examination with carrier status in females potentially harboring a severe Norrie disease gene mutation.Semantic proximity Read ↗

A novel mutation in the Norrie disease gene.Semantic proximity Read ↗

Mutations in the Norrie disease gene.Semantic proximity Read ↗

Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.Semantic proximity Read ↗

Two novel mutations in the Norrie disease gene associated with the classical ocular phenotype.Semantic proximity Read ↗

Lack of association of the Norrie disease gene with retinoschisis phenotype.Semantic proximity Read ↗

A characteristic phenotypic retinal appearance in Norrie disease.Semantic proximity Read ↗

Norrie disease in a family with a manifesting female carrier.Semantic proximity Read ↗

Three novel and two recurrent mutations of the Norrie disease gene in patients with Norrie syndrome.Semantic proximity Read ↗

Mutations in the candidate gene for Norrie disease.Semantic proximity Read ↗

A mutation in the Norrie disease gene (NDP) associated with familial exudative vitreoretinopathy.Semantic proximity Read ↗

Ocular phenotypes associated with two mutations (R121W, C126X) in the Norrie disease gene.Semantic proximity Read ↗

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