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

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Ophthalmology. Glaucoma - 1 Jan 2025

Rodrigues Rita, Alves David, Esteves-Leandro João, Silva Marta, Barbosa-Breda João, Tavares-Ferreira João, Araújo Joana, Fernandes Susana, Oliveira Renata, Melo António, Alves Flávio, Magalhães Augusto, Cotta José, Estrela-Silva Sérgio

Abstract excerpt

PURPOSE: To identify CYP1B1 variants in primary congenital glaucoma (PCG) patients from Northern Portugal and examine genotype-phenotype correlations. DESIGN: Cross sectional observational study. PARTICIPANTS: Seventy-one patients diagnosed and treated for PCG at ULS São João, Porto, Portugal, were included. These patients met the following criteria: available genetic testing data, a minimum follow-up period of 1...

Read the complete abstract on PubMed

Topics

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

Share to Cross-Sectional Studies
Share to Cytochrome P-450 CYP1B1

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Follow-Up Studies

Share to Genetic Association Studies

Share to Glaucoma

Share to Intraocular Pressure

Share to Visual Acuity

Source

Identifiers

PMID: 40349919
DOI: 10.1016/j.ogla.2025.04.012

Genes

CYP1B1
TEK

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.PMID 40349919Read ↗

Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.Semantic proximity Read ↗

Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.Semantic proximity Read ↗

CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma.Semantic proximity Read ↗

Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil.Semantic proximity Read ↗

Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.Semantic proximity Read ↗

Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital GlaucomaSemantic proximity Read ↗

Geographical Variability in CYP1B1 Mutations in Primary Congenital GlaucomaSemantic proximity Read ↗

Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.Semantic proximity Read ↗

Mutational analysis of CYP1B1 gene in Iranian pedigrees with glaucoma reveals known and novel mutations.Semantic proximity Read ↗

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Semantic proximity Read ↗

Congenital glaucoma and CYP1B1: an old story revisited.Semantic proximity Read ↗

Clinical variability of CYP1B1 gene variants in Pakistani primary congenital glaucoma families.Semantic proximity Read ↗

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