Associated Papers
Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
Neuhann L et al.
International Journal of Molecular Sciences, 2025
Natural Polymorphic Variants in the CYP450 Superfamily: A Review of Potential Structural Mechanisms and Functional Consequences.
Prost R et al.
International Journal of Molecular Sciences, 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
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Functional characterization of eight rare missense CYP1B1 variants involved in congenital glaucoma and their association with null genotypes.
Medina-Trillo C et al.
Acta Ophthalmologica, 2016
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
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
A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma.
Chakrabarti S et al.
Human Molecular Genetics, 2010
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.
Hilal L et al.
Molecular Vision, 2010
Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.
Tanwar M et al.
Molecular Vision, 2009
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Campos-Mollo E et al.
Molecular Vision, 2009
Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma.
Choudhary D et al.
Pharmacogenetics and Genomics, 2008
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2006
[Coding sequence analysis of CYP1B1 exon III in the Polish population of patients with primary congenital and juvenile glaucoma].
Koraszewska-Matuszewska B et al.
Klinika Oczna, 2004
Novel cytochrome P450 1B1 (CYP1B1) mutations in patients with primary congenital glaucoma in France.
Colomb E et al.
Human Mutation, 2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.
Bejjani BA et al.
Human Molecular Genetics, 2000
Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.
Berraho A et al.
Journal of Glaucoma, 0
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0