Condition: Glaucoma of childhood


rs55989760 in CYP1B1 gene and Glaucoma of childhood PMID 18227148 2008 Metabolism of 2-amino-1-methyl-6-phenylimidazo[4,5-b]pyridine (PhIP) by human CYP1B1 genetic variants.

PMID 18537981 2008 Genetic heterogeneity and minor CYP1B1 involvement in the molecular basis of primary congenital glaucoma in Gypsies.

PMID 25109919 2014 [Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report].

PMID 21600657 2011 CYP1B1-related anterior segment developmental anomalies novel mutations for infantile glaucoma and von Hippel's ulcer revisited.

PMID 10227395 1999 Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma.

PMID 15342693 2004 CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.

PMID 18414103 2008 Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico.

PMID 27243976 2016 Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.

PMID 21081970 2011 LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.

PMID 21854771 2011 Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma.

PMID 27820421 2016 CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

PMID 27272408 2016 Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

PMID 23218183 2013 Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma.

PMID 23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

PMID 9497261 1998 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.

PMID 17591938 2007 CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

PMID 23922489 2013 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

PMID 28448622 2017 Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma.

PMID 19234632 2009 CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

PMID 24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

PMID 9097971 1997 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.

rs72549387 in CYP1B1-AS1;CYP1B1 gene and Glaucoma of childhood PMID 11403040 2001 Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly.

PMID 22004014 2012 Screening glaucoma genes in adult glaucoma suggests a multiallelic contribution of CYP1B1 to open-angle glaucoma phenotypes.

PMID 12036985 2002 Molecular genetics of primary congenital glaucoma in Brazil.

PMID 23922489 2013 Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population.

PMID 24281366 2014 Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.

PMID 27820421 2016 CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.

PMID 19643970 2010 Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma.

PMID 23218701 2013 CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

PMID 12372064 2002 A novel frameshift founder mutation in the cytochrome P450 1B1 (CYP1B1) gene is associated with primary congenital glaucoma in Morocco.

PMID 27777502 2016 Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

PMID 19234632 2009 CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.

PMID 27272408 2016 Whole exome sequencing identifies multiple diagnoses in congenital glaucoma with systemic anomalies.

rs587778875 in CYP1B1;CYP1B1-AS1 gene and Glaucoma of childhood PMID 25950505 2015 Occurrence of CYP1B1 Mutations in Juvenile Open-Angle Glaucoma With Advanced Visual Field Loss.

PMID 25091052 2015 Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma.

PMID 9097971 1997 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.

PMID 17591938 2007 CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.

PMID 17164573 2007 Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

PMID 19247456 2009 Investigation of CYP1B1 mutations in Chinese patients with primary congenital glaucoma.