Genotype and Phenotype Correlations in Congenital Glaucoma: CYP1B1 Mutations, Goniodysgenesis, and Clinical Characteristics

Histology of the Human Eye.

D. M. Worthen · Archives of Ophthalmology · 1972 · 800 citations

Medicine, Anatomy, Pathology +10

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

I. Stoilov · Human Molecular Genetics · 1997 · 648 citations

Life Sciences, Genetics, Ophthalmology +17

17 beta-estradiol hydroxylation catalyzed by human cytochrome P450 1B1.

Carrie L. Hayes, David C. Spink, Barbara C. Spink et al. · Proceedings of the National Academy of Sciences · 1996 · 637 citations

Medicine, Biochemistry, Pharmacology +16

Trabecular Meshwork Cellularity in Primary Open-angle Glaucoma and Nonglaucomatous Normals

Jorge A. Alvarado, Collin Murphy, Richard Juster · Ophthalmology · 1984 · 617 citations

Health Professions, Anatomy, Ophthalmology +12

Sequence Analysis and Homology Modeling Suggest That Primary Congenital Glaucoma on 2p21 Results from Mutations Disrupting Either the Hinge Region or the Conserved Core Structures of Cytochrome P4501B1

Ivaylo Stoilov, Nurten Akarsu, Ihuoma Alozie et al. · The American Journal of Human Genetics · 1998 · 392 citations · Full text

Life Sciences, Genetics, Ophthalmology +16