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

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.

Eye (London, England) - 1 Feb 2006

Allen R C, Russell S R, Streb L M, Alsheikheh A, Stone E M

Abstract excerpt

PURPOSE: To determine the molecular pathology and clinical severity of two pedigrees with a history of early retinal detachment and peripheral retinal vascular abnormalities. DESIGN: Longitudinal cohort study. METHODS: A longitudinal clinical study and DNA analysis was performed on 49 family members of two pedigrees. RESULTS: Nine individuals were found to be hemizygous for a mutation at codon 112 (Gly112Glu) of...

Read the complete abstract on PubMed

Topics

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

Share to Child, Preschool
Share to Eye Diseases, Hereditary
Share to Eye Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Longitudinal Studies

Share to Nerve Tissue Proteins

Share to Pedigree

Share to Retinal Detachment

Share to Retinal Vessels

Source

Identifiers

PMID: 15776010
DOI: 10.1038/sj.eye.6701840

Genes

NDP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Phenotypic heterogeneity associated with a novel mutation (Gly112Glu) in the Norrie disease protein.PMID 15776010Read ↗

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 ↗

Clinical features of codon 172 RDS macular dystrophy: similar phenotype in 12 families.Semantic 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 ↗

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

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

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

CRYGD gene analysis in a family with autosomal dominant congenital cataract: evidence for molecular homogeneity and intrafamilial clinical heterogeneity in aculeiform cataract.Semantic proximity Read ↗

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

Histopathological and immunohistochemical findings associated with a null mutation in the Norrie disease gene.Semantic proximity Read ↗

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.Semantic proximity Read ↗

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