Associated Papers
Genetic Epidemiology of Primary Congenital Glaucoma in the 22 Arab Countries: A Systematic Review.
Jemmeih S et al.
Ophthalmic Epidemiology, 2022
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
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 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
Targeted next generation sequencing as a tool for precision medicine.
Gulilat M et al.
Bmc Medical Genomics, 2019
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.
Coêlho REA et al.
Journal of Glaucoma, 2019
Compound heterozygous mutations in CYP1B1 gene leads to severe primary congenital glaucoma phenotype.
Song N et al.
International Journal of Ophthalmology, 2019
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Svidnicki PV et al.
Ophthalmic Genetics, 2018
Association of genetic variations with pharmacokinetics and lipid-lowering response to atorvastatin in healthy Korean subjects.
Woo HI et al.
Drug Design, Development and Therapy, 2017
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients.
Do T et al.
Journal of Glaucoma, 2016
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM et al.
Molecular Vision, 2016
Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.
Souzeau E et al.
Jama Ophthalmology, 2015
CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia.
Badeeb OM et al.
Bmc Medical Genetics, 2014
CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.
Lim SH et al.
American Journal of Ophthalmology, 2013
Mutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucoma.
Su CC et al.
Eye (london, England), 2012
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
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
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Chitsazian F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients.
Kumar A et al.
Molecular Vision, 2007
Alleles of polymorphic sites that correspond to hyperactive variants of CYP1B1 protein are significantly less frequent in Japanese as compared to American and German populations.
Sasaki M et al.
Human Mutation, 2003
Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.
Micheal S et al.
Clinical & Experimental Ophthalmology, 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