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Article

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 May 1997

Shastry B S, Pendergast S D, Hartzer M K, Liu X, Trese M T

Abstract excerpt

BACKGROUND: Retinopathy of prematurity (ROP) is a retinal vascular disease occurring in infants with short gestational age and low birth weight and can lead to retinal detachment (ROP stages 4 and 5). X-linked familial exudative vitreoretinopathy is phenotypically similar to ROP and has been asso...

Topics

DNA Mutational Analysis
DNA Primers
Deafness
Electrophoresis, Agar Gel
Eye Proteins
Female
Humans
Infant, Newborn
Intellectual Disability
Male
Mutation
Nerve Tissue Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Polymerase Chain Reaction

Polymorphism, Restriction Fragment Length

Retinal Diseases

Retinopathy of Prematurity

Source

Identifiers

PMID: 9152134
DOI: 10.1001/archopht.1997.01100150653015

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9152134-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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Click a neighbor to travelStep 1 · 12 closest

Identification of missense mutations in the Norrie disease gene associated with advanced retinopathy of prematurity.PMID 9152134Read ↗

Mutations in the <i>NDP</i> gene: contribution to Norrie disease, familial exudative vitreoretinopathy and retinopathy of prematuritySemantic proximity Read ↗

Norrie disease gene sequence variants in an ethnically diverse population with retinopathy of prematurity.Semantic proximity Read ↗

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

Missense mutation (Arg121Trp) in the Norrie disease gene associated with x-linked exudative vitreoretinopathy.Semantic proximity Read ↗

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.Semantic proximity Read ↗

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

Identification of a recurrent missense mutation in the Norrie disease gene associated with a simplex case of exudative vitreoretinopathy.Semantic proximity Read ↗

A C597-->A polymorphism in the Norrie disease gene is associated with advanced retinopathy of prematurity in premature Kuwaiti infants.Semantic proximity Read ↗

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

Mutations of the Norrie gene in Korean ROP infants.Semantic proximity Read ↗

Retinal vascular abnormalities and dragged maculae in a carrier with a new NDP mutation (c.268delC) that caused severe Norrie disease in the proband.Semantic proximity Read ↗

Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.Semantic proximity Read ↗

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