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

Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.

Eye (London, England) - 1 Jul 2008

Iliev M E, Bodmer S, Gallati S, Lanz R, Sturmer J, Katsoulis K, Wolf S, Trittibach P, Sarra G M

Abstract excerpt

AIMS: To characterize genotype, phenotype, and age-related penetrance in a Swiss pedigree with juvenile open-angle glaucoma (JOAG). METHODS: In a large Swiss family with history of glaucoma and 82 living members of four generations, we conducted molecular analysis and a detailed phenotype characterization in 52 family members. Mutation analysis was carried out using single-strand conformation polymorphism and DNA...

Read the complete abstract on PubMed

Topics

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

Share to Cytoskeletal Proteins
Share to Eye Proteins
Share to Glaucoma, Open-Angle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycoproteins

Share to Heterozygote

Share to Pedigree

Share to Polymorphism, Single-Stranded Conformational

Share to Prognosis

Source

Identifiers

PMID: 17304254
DOI: 10.1038/sj.eye.6702745

Genes

MYOC

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

Glaucoma phenotype in a large Swiss pedigree with the myocilin Gly367Arg mutation.PMID 17304254Read ↗

Pro370Leu MYOC gene mutation in a large Chinese family with juvenile-onset open angle glaucoma: correlation between genotype and phenotype.Semantic proximity Read ↗

Glaucoma phenotype in pedigrees with the myocilin Thr377Met mutation.Semantic proximity Read ↗

Pro370Leu myocilin mutation in a Chinese pedigree with juvenile-onset open angle glaucoma.Semantic proximity Read ↗

Myocilin Gln368stop mutation and advanced age as risk factors for late-onset primary open-angle glaucoma.Semantic proximity Read ↗

Evaluation of the Myocilin Mutation Gln368Stop Demonstrates Reduced Penetrance for Glaucoma in European Populations.Semantic proximity Read ↗

Glaucoma phenotype in a large Chinese family with myocilin Val251Ala mutation.Semantic proximity Read ↗

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.Semantic proximity Read ↗

Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.Semantic proximity Read ↗

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.Semantic proximity Read ↗

Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.Semantic proximity Read ↗

Compound heterozygote myocilin mutations in a pedigree with high prevalence of primary open-angle glaucoma.Semantic proximity Read ↗

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.Semantic proximity Read ↗

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