Associated Papers
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 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
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 › Case_Studies
Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.
Banerjee A et al.
Plos One, 2016
Maternal uniparental isodisomy causing autosomal recessive GM1 gangliosidosis: a clinical report.
King JE et al.
Journal of Genetic Counseling, 2014
Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.
López-Garrido MP et al.
Ophthalmology, 2013
Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.
Li N et al.
Experimental Eye Research, 2011
Primary congenital glaucoma caused by the homozygous F261L CYP1B1 mutation and paternal isodisomy of chromosome 2.
López-Garrido MP et al.
Clinical Genetics, 2009
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Campos-Mollo E et al.
Molecular Vision, 2009
[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
Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma.
Faiq M et al.
Journal of Current Glaucoma Practice, 0
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