Associated Papers
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
First Results from the Prospective German Registry for Childhood Glaucoma: Phenotype-Genotype Association.
Stingl JV et al.
Journal of Clinical Medicine, 2021
Meta-analysis of CYP1B1 gene mutations in primary congenital glaucoma patients.
Haddad A et al.
European Journal of Ophthalmology, 2021
Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes.
Lang E et al.
Translational Vision Science & Technology, 2020
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida.
Thanikachalam S et al.
Genes, 2020
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Role of FOXC2 and PITX2 rare variants associated with mild functional alterations as modifier factors in congenital glaucoma.
Medina-Trillo C et al.
Plos One, 2019
Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma.
Chouiter L et al.
Journal of Pediatric Genetics, 2017
Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.
García-Antón MT et al.
Plos One, 2017
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
Grønskov K et al.
Journal of Glaucoma, 2016
Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.
Reis LM et al.
Clinical Genetics, 2016
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Reis LM et al.
Molecular Vision, 2016
CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.
Bouyacoub Y et al.
Annals of Human Genetics, 2014
Prevalence of CYP1B1 mutations in Australian patients with primary congenital glaucoma.
Dimasi DP et al.
Clinical Genetics, 2007
CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma.
Cardoso MS et al.
European Journal of Ophthalmology, 0
CYP1B1 mutational screening in a Portuguese cohort of primary congenital glaucoma patients.
Simões MJ et al.
Ophthalmic Genetics, 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0
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