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

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisions

4 Dec 2014

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Ocular Disorders and Treatments
Share to Retinal Development and Disorders
Share to Retinopathy of Prematurity Studies

Source

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

Identifiers

PMID: 25474345
DOI: 10.1038/gim.2014.174

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Comprehensive analysis of patients with Stargardt macular dystrophy reveals new genotype–phenotype correlations and unexpected diagnostic revisionsPMID 25474345Read ↗

Clinical and genetic characteristics of Stargardt disease in a large Western China cohort: Report 1.Semantic proximity Read ↗

ASSOCIATION BETWEEN GENOTYPE AND DISEASE PROGRESSION IN ITALIAN STARGARDT PATIENTS: A Retrospective Natural History Study.Semantic proximity Read ↗

Expanding the genotype-phenotype correlations and mutational spectrum in inherited retinal diseases: novel and recurrent mutationsSemantic proximity Read ↗

Inherited retinal disorders: a genotype-phenotype correlation in an Indian cohort and the importance of genetic testing and genetic counselling.Semantic proximity Read ↗

Stargardt macular dystrophy and therapeutic approaches.Semantic proximity Read ↗

Comparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.Semantic proximity Read ↗

Compendium of Clinical Variant Classification for 2,246 Unique ABCA4 Variants to Clarify Variant Pathogenicity in Stargardt Disease Using a Modified ACMG/AMP FrameworkSemantic proximity Read ↗

Unusual clinical phenotype of Stargardt disease.Semantic proximity Read ↗

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families.Semantic proximity Read ↗

Stargardt’s Disease: Molecular Pathogenesis and Current Therapeutic LandscapeSemantic proximity Read ↗

Compendium of clinical variant classification for 2,247 unique<i>ABCA4</i>variants to improve genetic medicine access for Stargardt DiseaseSemantic proximity Read ↗

Phenotype-integrated reinterpretation of laboratory-reported <i>ABCA4</i> gene sequencing results improves molecular diagnostic rate in Black/non-White patients and those with late-onset Stargardt macular dystrophySemantic proximity Read ↗

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