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Article

Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.

Genomics - 20 May 1995

Shastry B S, Hejtmancik J F, Plager D A, Hartzer M K, Trese M T

Abstract excerpt

Familial exudative vitreoretinopathy (FEVR) is a hereditary eye disorder characterized by avascularity of the peripheral retina, retinal exudates, tractional detachment, and retinal folds. The disorder is most commonly transmitted as an autosomal dominant trait, but X-linked transmission also occurs. To initiate the process of identifying the gene responsible for the X-linked disorder, linkage analysis has been...

Topics

Base Sequence
Chromosome Mapping
Eye Diseases, Hereditary
Female
Genetic Linkage
Genetic Markers
Humans
Male
Molecular Sequence Data
Mutation
Pedigree
Retinal Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

X Chromosome

Source

Identifiers

PMID: 7558002
DOI: 10.1006/geno.1995.1052

Genes

MAOA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7558002-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Linkage and candidate gene analysis of X-linked familial exudative vitreoretinopathy.PMID 7558002Read ↗

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

Identification of novel missense mutations in the Norrie disease gene associated with one X-linked and four sporadic cases of familial exudative vitreoretinopathy.Semantic proximity Read ↗

Genetic evaluation to establish the diagnosis of X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

Autosomal recessive familial exudative vitreoretinopathy is associated with mutations in LRP5.Semantic proximity Read ↗

Mapping studies of an X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

PHENOTYPIC HETEROGENEITY IN A FAMILY WITH X-LINKED FAMILIAL EXUDATIVE VITREORETINOPATHY WITH PREVENTION OF VISUAL LOSS IN AN AFFECTED MALE CHILD WITH LASER TREATMENT IN INFANCY.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 ↗

Evidence for genetic heterogeneity in X-linked familial exudative vitreoretinopathy.Semantic proximity Read ↗

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

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