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

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.

American journal of ophthalmology - 1 Aug 2000

Kniazeva M, Traboulsi E I, Yu Z, Stefko S T, Gorin M B, Shugart Y Y, O'Connell J R, Blaschak C J, Cutting G, Han M, Zhang K

Abstract excerpt

PURPOSE: To report the localization of a gene causing drusen and macular degeneration in a previously undescribed North American family. METHODS: Genetic mapping studies were performed using linkage analysis in a single family with drusen and atrophic macular degeneration. RESULTS: The clinical manifestations in this family ranged from fine macular drusen in asymptomatic middle-aged individuals to atrophic...

Read the complete abstract on PubMed

Topics

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

Share to Macula Lutea
Share to Atrophy

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 6

Share to Genetic Linkage

Share to Lod Score

Share to Macular Degeneration

Share to Microsatellite Repeats

Share to Retinal Drusen

Source

Identifiers

PMID: 11004294
DOI: 10.1016/s0002-9394(00)00585-7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new locus for dominant drusen and macular degeneration maps to chromosome 6q14.PMID 11004294Read ↗

North Carolina macular dystrophy (MCDR1). A review and refined mapping to 6q14-q16.2.Semantic proximity Read ↗

Autosomal dominant macular atrophy at 6q14 excludes CORD7 and MCDR1/PBCRA loci.Semantic proximity Read ↗

North Carolina macular dystrophy (MCDR1) caused by a novel tandem duplication of the PRDM13 gene.Semantic proximity Read ↗

Phenotype of a British North Carolina macular dystrophy family linked to chromosome 6q.Semantic proximity Read ↗

North Carolina macular dystrophy is assigned to chromosome 6Semantic proximity Read ↗

Unique noncoding variants upstream of PRDM13 are associated with a spectrum of developmental retinal dystrophies including progressive bifocal chorioretinal atrophySemantic proximity Read ↗

North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13.Semantic proximity Read ↗

Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14.Semantic proximity Read ↗

Clinical Features of a Stargardt-Like Dominant Progressive Macular Dystrophy With Genetic Linkage to Chromosome 6qSemantic proximity Read ↗

Clinical and genetic characterization of a Danish family with North Carolina macular dystrophy.Semantic proximity Read ↗

A novel PRDM13 gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.Semantic proximity Read ↗

North Carolina macular dystrophy: clinical features, genealogy, and genetic linkage analysis.Semantic proximity Read ↗

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