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

Norrie disease in a family with a manifesting female carrier.

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

Sims K B, Irvine A R, Good W V

Abstract excerpt

OBJECTIVES: To show that Norrie disease can occur in a girl and to describe her ophthalmologic and genetic features. METHODS: Amplification of DNA polymerase chain reaction and sequencing of asymmetric polymerase chain reaction for exon 3 were performed on the blood specimen obtained from a girl born with bilateral retinal detachments. PATIENT: A female child with bilateral retinal detachment who had 2 uncles in...

Read the complete abstract on PubMed

Topics

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

Share to Blindness
Share to Developmental Disabilities
Share to Exons

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

Share to Heterozygote

Share to Infant

Share to Mutation

Share to Nervous System Diseases

Share to X Chromosome

Source

Identifiers

PMID: 9109762
DOI: 10.1001/archopht.1997.01100150519012

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Norrie disease in a family with a manifesting female carrier.PMID 9109762Read ↗

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

NDP-related retinopathies: clinical phenotype of female carriers.Semantic proximity Read ↗

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

Ocular findings associated with a Cys39Arg mutation in the Norrie disease gene.Semantic proximity Read ↗

A novel mutation in the Norrie disease gene.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 ↗

Phenotype-genotype correlation in potential female carriers of X-linked developmental cataract (Nance-Horan syndrome).Semantic proximity Read ↗

X-linked juvenile retinoschisis: mutations at the retinoschisis and Norrie disease gene loci?Semantic proximity Read ↗

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

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

Case report of fetus with Lowe syndrome: Expanding the prenatal phenotype.Semantic proximity Read ↗

X-linked juvenile retinoschisis in a consanguineous family: phenotypic variability and report of a homozygous female patient.Semantic proximity Read ↗

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