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

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.

Molecular vision - 26 Jan 2007

Riveiro-Alvarez R, Valverde D, Lorda-Sanchez I, Trujillo-Tiebas M J, Cantalapiedra D, Vallespin E, Aguirre-Lamban J, Ramos C, Ayuso C

Abstract excerpt

PURPOSE: Stargardt disease (STGD) is the most common juvenile macular dystrophy, characterized by central visual impairment. All recessively inherited cases are thought to be due to mutations in the ABCA4 gene, mapped to 1p21-p13. METHODS: To describe a form of non-mendelian inheritance in a patient with STGD identified through the course of a conventional mutational screening performed on 77 STGD families. DNA...

Read the complete abstract on PubMed

Topics

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

Share to Arginine
Share to ATP-Binding Cassette Transporters

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 1

Share to Cytogenetic Analysis

Share to Fathers

Share to Leucine

Share to Macular Degeneration

Share to Uniparental Disomy

Source

Open in PubMed Open full text

Identifiers

PMID: 17277736
PMCID: PMC2553007

Genes

ABCA4

Variants

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

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease.PMID 17277736Read ↗

An ABCA4 genomic deletion in patients with Stargardt disease.Semantic proximity Read ↗

Analysis of the ABCA4 genomic locus in Stargardt disease.Semantic proximity Read ↗

Familial discordance in Stargardt disease.Semantic proximity Read ↗

Clinical and genetic characteristics of late-onset Stargardt's disease.Semantic proximity Read ↗

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes.Semantic proximity Read ↗

Genetic fine mapping of the gene for recessive Stargardt disease.Semantic proximity Read ↗

Mutations of the retinal specific ATP binding transporter gene (ABCR) in a single family segregating both autosomal recessive retinitis pigmentosa RP19 and Stargardt disease: evidence of clinical heterogeneity at this locus.Semantic proximity Read ↗

Genetic risk estimates for offspring of patients with Stargardt diseaseSemantic proximity Read ↗

A Novel ABCA4 Mutation Associated with a Late-Onset Stargardt Disease Phenotype: A Hypomorphic AlleleSemantic proximity Read ↗

Analysis of 21 Stargardt's disease families confirms a major locus on chromosome 1p with evidence for non-allelic heterogeneity in a minority of cases.Semantic proximity Read ↗

Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.Semantic proximity Read ↗

A new locus for autosomal dominant stargardt-like disease maps to chromosome 4.Semantic proximity Read ↗

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