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

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.

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

Wu Wei-Chi, Drenser Kimberly, Trese Michael, Capone Antonio, Dailey Wendy

Abstract excerpt

OBJECTIVE: To correlate the ophthalmic findings of patients with pediatric vitreoretinopathies with mutations occurring in the Norrie disease gene (NDP). METHODS: One hundred nine subjects with diverse pediatric vitreoretinopathies and 54 control subjects were enrolled in the study. Diagnoses were based on retinal findings at each patient's first examination. Samples of DNA from each patient underwent polymerase...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to Cysteine
Share to Deafness

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Eye Diseases, Hereditary

Share to Eye Proteins

Share to Intellectual Disability

Share to Nerve Tissue Proteins

Share to Retina

Source

Identifiers

PMID: 17296899
DOI: 10.1001/archopht.125.2.225

Genes

NDP

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 · 12 closest

Retinal phenotype-genotype correlation of pediatric patients expressing mutations in the Norrie disease gene.PMID 17296899Read ↗

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

Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular SyndromeSemantic proximity Read ↗

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

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

Clinical presentation and genetic correlation of patients with mutations affecting the FZD4 gene.Semantic proximity Read ↗

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

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy.Semantic proximity Read ↗

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

Familial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).Semantic proximity Read ↗

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

Familial Exudative VitreoretinopathySemantic proximity Read ↗

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

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