Associated Papers
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
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Ruiz Guijosa A et al.
Ophthalmic Genetics, 2024
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
Screening of high-risk deleterious missense variations in the CYP1B1 gene implicated in the pathogenesis of primary congenital glaucoma: A comprehensive in silico approach.
Shahid M et al.
Peerj, 2022
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
Updates on the molecular genetics of primary congenital glaucoma (Review).
Ling C et al.
Experimental and Therapeutic Medicine, 2020
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan.
Rashid M et al.
Molecular Vision, 2019
Phenotype and Genotype Correlation in Iranian Primary Congenital Glaucoma Patients.
Yazdani S et al.
Journal of Glaucoma, 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
Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.
Wang J et al.
Plos One, 2014
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
LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.
Azmanov DN et al.
European Journal of Human Genetics : Ejhg, 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
MYOC and FOXC1 gene analysis in primary congenital glaucoma.
Tanwar M et al.
Molecular Vision, 2010
Sturge-Weber syndrome with congenital glaucoma and cytochrome P450 (CYP1B1) gene mutations.
Tanwar M et al.
Journal of Glaucoma, 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
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
Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C exist.
Narooie-Nejad M et al.
Molecular Vision, 2009
Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients.
Tanwar M et al.
Molecular Vision, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucoma.
Weisschuh N et al.
American Journal of Ophthalmology, 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
Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.
Sivadorai P et al.
Clinical Genetics, 2008
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Chitsazian F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Globally, CYP1B1 mutations in primary congenital glaucoma are strongly structured by geographic and haplotype backgrounds.
Chakrabarti S et al.
Investigative Ophthalmology & Visual Science, 2006
Correlations of genotype with phenotype in Indian patients with primary congenital glaucoma.
Panicker SG et al.
Investigative Ophthalmology & Visual Science, 2004
[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
Identification of R368H as a predominant CYP1B1 allele causing primary congenital glaucoma in Indian patients.
Reddy AB et al.
Investigative Ophthalmology & Visual Science, 2003
Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees.
Panicker SG et al.
Investigative Ophthalmology & Visual Science, 2002
Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma.
Berraho A et al.
Journal of Glaucoma, 0
Cytochrome P450 1B1 and Primary Congenital Glaucoma.
Zhao Y et al.
Journal of Ophthalmic & Vision Research, 0
Molecular Diagnostics and Genetic Counseling in Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.
Sarfarazi M
Journal of Ophthalmic & Vision Research, 0