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

Molecular evidence for non-penetrance in Best's disease.

Journal of medical genetics - 1 May 1994

Weber B H, Walker D, Müller B

Abstract excerpt

The present study provides evidence for a possible case of non-penetrance in Best's disease. We have analysed the at risk members of a three generation family with an established history of Best's disease by ophthalmoscopic examination, electrophysiological tests, and genetic analysis. The clinical examination identified 10 affected and five unaffected persons in this family. Genetic linkage analysis strongly...

Topics

Adult
Chi-Square Distribution
Chromosomes, Human, Pair 11
DNA, Satellite
Electrooculography
Gene Expression
Genes, Dominant
Genetic Linkage
Haplotypes
Humans
Likelihood Functions
Macular Degeneration

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Pedigree

Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 8064817
DOI: 10.1136/jmg.31.5.388
PMCID: PMC1049871

Genes

PYGM

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8064817-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular evidence for non-penetrance in Best's disease.PMID 8064817Read ↗

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.Semantic proximity Read ↗

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.Semantic proximity Read ↗

Autosomal dominant Best disease with an unusual electrooculographic light rise and risk of angle-closure glaucoma: a clinical and molecular genetic study.Semantic proximity Read ↗

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

Phenotype and genotype of patients with autosomal recessive bestrophinopathy.Semantic proximity Read ↗

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.Semantic proximity Read ↗

A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene.Semantic proximity Read ↗

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

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Semantic proximity Read ↗

Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13.Semantic proximity Read ↗

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".Semantic proximity Read ↗

Phenotypic variability due to a novel Glu292Lys variation in exon 8 of the BEST1 gene causing best macular dystrophy.Semantic proximity Read ↗

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