Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
about
Genetic studies of the Roma (Gypsies): a reviewOrigins and divergence of the Roma (gypsies)Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier geneGenetic, Biochemical and Clinical Insights into Primary Congenital GlaucomaGenotype-Phenotype Correlations in CYP1B1-Associated Primary Congenital Glaucoma Patients Representing Two Large Cohorts from India and BrazilIdentification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Regulation of cytochrome P450 (CYP) genes by nuclear receptors.Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.MYOC and FOXC1 gene analysis in primary congenital glaucoma.Transcription profiling in Drosophila eyes that overexpress the human glaucoma-associated trabecular meshwork-inducible glucocorticoid response protein/myocilin (TIGR/MYOC).LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population.Genetics and genomic medicine in SlovakiaCarrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).Contribution of GLC3A locus to Primary Congenital Glaucoma in Pakistani population.Mutation spectrum of CYP1B1 and MYOC genes in Korean patients with primary congenital glaucomaScreening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma.Phenotype of cytochrome P4501B1 gene (CYP1B1) mutations in Japanese patients with primary congenital glaucoma.MARVELD2 (DFNB49) mutations in the hearing impaired Central European Roma population--prevalence, clinical impact and the common origin.Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucomaCYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Sex Bias in Primary Congenital Glaucoma Patients with and without CYP1B1 Mutations.Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucomaInvestigation of CYP1B1 mutations in Chinese patients with primary congenital glaucomaAn epidemiological investigation of a Forkhead box protein E3 founder mutation underlying the high frequency of sclerocornea, aphakia, and microphthalmia in a Mexican village.Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patientsMolecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study.Genotyping results of Iranian PCG families suggests one or more PCG locus other than GCL3A, GCL3B, and GCL3C existComplex genetic mechanisms in glaucoma: an overviewPrimary Congenital Glaucoma and the Involvement of CYP1B1.Angiopoietin receptor TEK interacts with CYP1B1 in primary congenital glaucoma.Primary congenital and developmental glaucomas.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Defective CYP1B1 does not 4-hydroxylate EST17bResearch progress on human genes involved in the pathogenesis of glaucoma (Review).
P2860
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P2860
Identification of a single ancestral CYP1B1 mutation in Slovak Gypsies (Roms) affected with primary congenital glaucoma
description
1999 nî lūn-bûn
@nan
1999 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1999 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
name
Identification of a single anc ...... th primary congenital glaucoma
@ast
Identification of a single anc ...... th primary congenital glaucoma
@en
Identification of a single anc ...... th primary congenital glaucoma
@nl
type
label
Identification of a single anc ...... th primary congenital glaucoma
@ast
Identification of a single anc ...... th primary congenital glaucoma
@en
Identification of a single anc ...... th primary congenital glaucoma
@nl
prefLabel
Identification of a single anc ...... th primary congenital glaucoma
@ast
Identification of a single anc ...... th primary congenital glaucoma
@en
Identification of a single anc ...... th primary congenital glaucoma
@nl
P2093
P2860
P3181
P1476
Identification of a single anc ...... th primary congenital glaucoma
@en
P2093
P2860
P304
P3181
P407
P577
1999-04-01T00:00:00Z