Associated Papers
Primary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Ruiz Guijosa A et al.
Ophthalmic Genetics, 2024
Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing.
Singh AK et al.
Bmc Medical Genomics, 2023
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
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients.
Svidnicki PV et al.
Ophthalmic Genetics, 2018
Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.
Gonzalez-Covarrubias V et al.
Frontiers in Pharmacology, 2017
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
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
Molecular analysis of Italian patients with congenital glaucoma.
Giuffre' I
Ophthalmic Genetics, 2011
Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.
Pasutto F et al.
Investigative Ophthalmology & Visual Science, 2010
Functional analysis of CYP1B1 mutations and association of heterozygous hypomorphic alleles with primary open-angle glaucoma.
López-Garrido MP et al.
Clinical Genetics, 2010
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.
Campos-Mollo E et al.
Molecular Vision, 2009
Association of CYP1B1 germ line mutations with hepatocyte nuclear factor 1alpha-mutated hepatocellular adenoma.
Jeannot E et al.
Cancer Research, 2007
Heterozygous CYP1B1 gene mutations in Spanish patients with primary open-angle glaucoma.
López-Garrido MP et al.
Molecular Vision, 2006
Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations.
Morales-Fernandez L 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
Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.
Thuma TBT et al.
Survey of Ophthalmology, 0
Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Rodrigues R et al.
Ophthalmology. Glaucoma, 0