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

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.

Acta ophthalmologica - 1 Nov 2023

Liuska Perttu J, Tadji Abdessallam, Repo Pauliina, Hiltunen Juho, Backlund Michael, Järvinen Reetta-Stiina, Ojanen Eeva, Majander Anna, Kivelä Tero T, Harju Mika, Turunen Joni A

Abstract excerpt

PURPOSE: To identify germline variants in myocilin (MYOC) and other known monogenic glaucoma genes in Finnish patients with juvenile open-angle glaucoma (JOAG). METHODS: Finnish patients with JOAG treated between 2010 and 2018 at the Department of Ophthalmology, Helsinki University Hospital, Finland, were enrolled. We sequenced all exonic regions and flanking splice sites of MYOC for five patients and one healthy...

Read the complete abstract on PubMed

Topics

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

Share to Eye Proteins
Share to Finland

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glaucoma

Share to Glaucoma, Open-Angle

Share to Latent TGF-beta Binding Proteins

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 37032519
DOI: 10.1111/aos.15670

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

Analysis of glaucoma genes in Finnish patients with juvenile open-angle glaucoma.PMID 37032519Read ↗

Myocilin gene mutations: A cause of juvenile open-angle glaucoma in north IndiaSemantic proximity Read ↗

Identification a novel MYOC gene mutation in a Chinese family with juvenile-onset open angle glaucoma.Semantic proximity Read ↗

PRIMARY OPEN-ANGLE GLAUCOMA DUE TO MUTATIONS IN THE MYOC GENE.Semantic proximity Read ↗

Systemic Genotype-Phenotype Analysis of MYOC Variants Based on Exome Sequencing and Literature Review.Semantic proximity Read ↗

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

Digenic Inheritance in Juvenile Open-Angle GlaucomaSemantic proximity Read ↗

Association of the MYOC p.(Gln368Ter) Variant With Glaucoma in a Finnish Population.Semantic proximity Read ↗

A novel de novo Myocilin variant in a patient with sporadic juvenile open angle glaucoma.Semantic proximity Read ↗

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

Identification of a novel MYOC mutation in a Chinese family with primary open-angle glaucoma.Semantic proximity Read ↗

Molecular analysis of myocilin and optineurin genes in Korean primary glaucoma patients.Semantic proximity Read ↗

MYOC Gene Sequencing Analysis in Primary Open-Angle Glaucoma Patients from the Centre Region of Portugal.Semantic proximity Read ↗

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