Associated Papers
Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.
Sharma M et al.
Journal of Proteins and Proteomics, 2025
Deciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
Zafar A et al.
International Journal of Molecular Sciences, 2025
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant.
Kaushik S et al.
American Journal of Ophthalmology, 2022
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Comprehensive analysis of important pharmacogenes in Koreans using the DMET™ platform.
Kim B et al.
Translational and Clinical Pharmacology, 2021
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.
Afzal R et al.
Congenital Anomalies, 2019
Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients.
Waryah YM et al.
International Journal of Ophthalmology, 2019
Primary congenital glaucoma including next-generation sequencing-based approaches: clinical utility gene card.
Yu-Wai-Man C et al.
European Journal of Human Genetics : Ejhg, 2018
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim SH et al.
American Journal of Ophthalmology, 2013
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Primary Congenital Glaucoma and the Involvement of CYP1B1.
Kaur K et al.
Middle East African Journal of Ophthalmology, 2011
Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.
Abu-Amero KK et al.
Molecular Vision, 2011
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Chakrabarti S et al.
Human Molecular Genetics, 2010
MYOC and FOXC1 gene analysis in primary congenital glaucoma.
Tanwar M et al.
Molecular Vision, 2010
Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.
Tanwar M et al.
Case Reports in Medicine, 2010
Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.
Tanwar M et al.
Molecular Vision, 2009
Primary congenital glaucoma: three case reports on novel mutations and combinations of mutations in the GLC3A (CYP1B1) gene.
Michels-Rautenstrauss KG et al.
Journal of Glaucoma, 2001
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Micheal S et al.
Clinical & Experimental Ophthalmology, 0
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
Investigation of mutational spectrum in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma.
Zahid T et al.
Pakistan Journal of Medical Sciences, 0
Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.
Kaginalkar A et al.
Taiwan Journal of Ophthalmology, 0