| 1 |
33745036 | Genetic analysis of patients with primary congenital glaucoma. | 2021 Jul |
1 |
| 2 |
33892047 | Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry. | 2021 Nov |
1 |
| 3 |
30270463 | Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2. | 2019 Sep |
6 |
| 4 |
30662834 | Two novel variants in CYP1B1 gene: a major contributor of autosomal recessive primary congenital glaucoma with allelic heterogeneity in Pakistani patients. | 2019 |
1 |
| 5 |
30820150 | Identities and frequencies of variants in CYP1B1 causing primary congenital glaucoma in Pakistan. | 2019 |
2 |
| 6 |
31251480 | Primary congenital glaucoma due to paternal uniparental isodisomy of chromosome 2 and CYP1B1 deletion. | 2019 Aug |
1 |
| 7 |
28386709 | In silico analysis of five missense mutations in CYP1B1 gene in Pakistani families affected with primary congenital glaucoma. | 2018 Apr |
1 |
| 8 |
28448622 | Goniodysgenesis variability and activity of CYP1B1 genotypes in primary congenital glaucoma. | 2017 |
3 |
| 9 |
28549150 | Primary congenital and developmental glaucomas. | 2017 Aug 1 |
1 |
| 10 |
28620713 | Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma. | 2017 Aug |
2 |
| 11 |
28730218 | The morphogen behind primary congenital glaucoma and the dream of targeting. | 2017 |
1 |
| 12 |
29142762 | Analysis of CYP1B1 Gene Mutations in Patients with Primary Congenital Glaucoma. | 2017 Dec |
4 |
| 13 |
24940937 | Genotype/Phenotype Correlation in Primary Congenital Glaucoma Patients in the Lebanese Population: A Pilot Study. | 2016 |
2 |
| 14 |
26550974 | CYP1B1 and MYOC Mutations in Vietnamese Primary Congenital Glaucoma Patients. | 2016 May |
1 |
| 15 |
27508083 | A spectrum of CYP1B1 mutations associated with primary congenital glaucoma in families of Pakistani descent. | 2016 |
2 |
| 16 |
27777502 | Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. | 2016 |
1 |
| 17 |
25091052 | Identification of novel CYP1B1 gene mutations in patients with primary congenital and primary open-angle glaucoma. | 2015 Jan-Feb |
2 |
| 18 |
25750510 | CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. | 2015 |
1 |
| 19 |
25826643 | Genotype-phenotype correlation in Moroccan patients with primary congenital glaucoma. | 2015 Apr-May |
3 |
| 20 |
25836661 | Clinical Variability of Primary Congenital Glaucoma in a Spanish Family With Cyp1b1 Gene Mutations. | 2015 Oct-Nov |
1 |
| 21 |
25952714 | CYP1B1 gene analysis and phenotypic correlation in Portuguese children with primary congenital glaucoma. | 2015 Nov-Dec |
1 |
| 22 |
25978063 | Genotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and Brazil. | 2015 |
2 |
| 23 |
26005556 | Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma. | 2015 Jan-Mar |
1 |
| 24 |
26518078 | Primary congenital glaucoma. | 2015 |
1 |
| 25 |
26997841 | CYP1B1-mediated Pathobiology of Primary Congenital Glaucoma. | 2015 Sep-Dec |
3 |
| 26 |
24227805 | CYP1B1 genotype influences the phenotype in primary congenital glaucoma and surgical treatment. | 2014 Feb |
1 |
| 27 |
24942078 | CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia. | 2014 Jul |
2 |
| 28 |
25018621 | Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations. | 2014 |
1 |
| 29 |
25261878 | CYP1B1 mutations in patients with primary congenital glaucoma from Saudi Arabia. | 2014 Sep 28 |
1 |
| 30 |
25329831 | A novel methodology for enhanced and consistent heterologous expression of unmodified human cytochrome P450 1B1 (CYP1B1). | 2014 |
1 |
| 31 |
23218183 | Null CYP1B1 genotypes in primary congenital and nondominant juvenile glaucoma. | 2013 Apr |
1 |
| 32 |
23922489 | 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. | 2013 |
1 |
| 33 |
26997785 | Genetic, Biochemical and Clinical Insights into Primary Congenital Glaucoma. | 2013 May-Aug |
2 |
| 34 |
21850185 | Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucoma. | 2011 |
3 |
| 35 |
21854771 | Overview of Cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. | 2011 Nov |
2 |
| 36 |
22128238 | Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. | 2011 |
1 |
| 37 |
22219654 | Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucoma. | 2011 |
3 |
| 38 |
19643970 | Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. | 2010 Jan |
1 |
| 39 |
20151268 | Mutation spectrum of the CYP1B1 gene for congenital glaucoma in the Japanese population. | 2010 Jan |
3 |
| 40 |
20660114 | A polymorphism in the CYP1B1 promoter is functionally associated with primary congenital glaucoma. | 2010 Oct 15 |
3 |
| 41 |
20664688 | Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. | 2010 Jul 2 |
1 |
| 42 |
18708620 | The transcription factor gene FOXC1 exhibits a limited role in primary congenital glaucoma. | 2009 Jan |
1 |
| 43 |
19234632 | CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. | 2009 |
1 |
| 44 |
19597567 | Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. | 2009 Jul 8 |
2 |
| 45 |
19656777 | Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma. | 2009 Oct 15 |
1 |
| 46 |
19744731 | Variable expressivity and high penetrance of CYP1B1 mutations associated with primary congenital glaucoma. | 2009 Nov |
1 |
| 47 |
20057908 | Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. | 2009 Dec 30 |
2 |
| 48 |
18414103 | Contribution of CYP1B1 mutations and founder effect to primary congenital glaucoma in Mexico. | 2008 Apr-May |
1 |
| 49 |
18622259 | Characterization of the biochemical and structural phenotypes of four CYP1B1 mutations observed in individuals with primary congenital glaucoma. | 2008 Aug |
2 |
| 50 |
17164573 | Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma. | 2007 |
1 |