Associated Papers
Intrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.
Sharma M et al.
Journal of Proteins and Proteomics, 2025
Pathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
Ahmad S et al.
Scientific Reports, 2025
Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
Al-Saei O et al.
Bmc Genomics, 2024
Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
Franco E et al.
Cornea, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Non-Case_Studies
Mutation screening of the CYP1B1 gene reveals thirteen novel disease-causing variants in consanguineous Pakistani families causing primary congenital glaucoma.
Tehreem R et al.
Plos One, 2022
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
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
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Rashid M et al.
Molecular Vision, 2019
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.
Prokudin I et al.
European Journal of Human Genetics : Ejhg, 2014
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Micheal S et al.
Clinical & Experimental Ophthalmology, 0
Select a paper to view details