Associated Papers
Pathogenicity patterns in cytochrome P450 family.
Špačková A et al.
Bioinformatics Advances, 2025
Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Fuse N et al.
Japanese Journal of Ophthalmology, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.
Li W et al.
Investigative Ophthalmology & Visual Science, 2023
Genetics and Glaucoma: the state of the art.
Tirendi S et al.
Frontiers in Medicine, 2023
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
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
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic 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
Bioinformatics analysis of CYP1B1 mutation hotspots in Chinese primary congenital glaucoma patients.
Ou Z et al.
Bioscience Reports, 2018
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study.
Al-Haddad C et al.
Ophthalmic Genetics, 2016
MutaCYP: Classification of missense mutations in human cytochromes P450.
Fechter K et al.
Bmc Medical Genomics, 2014
CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment.
Chen X et al.
The British Journal of Ophthalmology, 2014
A clinical and molecular genetics study of primary congenital glaucoma in South Korea.
Suh W et al.
The British Journal of Ophthalmology, 2012
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
Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma.
Kim HJ et al.
Molecular Vision, 2011
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 the CYP1B1 gene for congenital glaucoma in the Japanese population.
Fuse N et al.
Japanese Journal of Ophthalmology, 2010
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
A clinical and molecular genetic study of German patients with primary congenital glaucoma.
Weisschuh N et al.
American Journal of Ophthalmology, 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
CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.
Chitsazian F et al.
The Journal of Molecular Diagnostics : Jmd, 2007
Molecular diagnostics of genetic eye diseases.
Fan BJ et al.
Clinical Biochemistry, 2006
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
Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype.
de Silva MG et al.
Journal of Medical Genetics, 2003
Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma.
Ohtake Y et al.
The British Journal of Ophthalmology, 2003
CYP1B1 gene analysis in primary congenital glaucoma in Indonesian and European patients.
Sitorus R et al.
Journal of Medical Genetics, 2003
[Two families with primary open-angle glaucoma associated with myocilin gene mutations].
Takahashi H et al.
Nippon Ganka Gakkai Zasshi, 2002
Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma.
Mashima Y et al.
Investigative Ophthalmology & Visual Science, 2001
Novel compound heterozygous mutations in the cytochrome P4501B1 gene (CYP1B1) in a Japanese patient with primary congenital glaucoma.
Ohtake Y et al.
Ophthalmic 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
Targeted Screening for Predominant CYP1B1 Mutations in Primary Congenital Glaucoma.
Sarfarazi M
Journal of Ophthalmic & Vision Research, 0