CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
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Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucomaA molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein responseCurrent concepts on primary open-angle glaucoma genetics: a contribution to disease pathophysiology and future treatmentMutations in the CYP1B1 gene may contribute to juvenile-onset open-angle glaucomaIdentification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients.Mutational spectrum of the CYP1B1 gene in Pakistani patients with primary congenital glaucoma: novel variants and genotype-phenotype correlations.A case of 22q11.2 deletion syndrome with Peters anomaly, congenital glaucoma, and heterozygous mutation in CYP1B1Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1.Tag SNPs detect association of the CYP1B1 gene with primary open angle glaucoma.Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis.Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of primary open-angle glaucoma.Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis).WDR36 and P53 gene variants and susceptibility to primary open-angle glaucoma: analysis of gene-gene interactions.Screening 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.CYP1B1 mutation profile of Iranian primary congenital glaucoma patients and associated haplotypes.A novel truncation mutation in GJA1 associated with open angle glaucoma and microcornea in a large Chinese family.Variants in the ASB10 Gene Are Associated with Primary Open Angle Glaucoma.No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis.Functional and Structural Analyses of CYP1B1 Variants Linked to Congenital and Adult-Onset Glaucoma to Investigate the Molecular Basis of These Diseases.Myocilin mutations are not a major cause of primary congenital glaucoma in Iranian patients.Comprehensive analysis of myocilin variants in east Indian POAG patients.A novel MYOC heterozygous mutation identified in a Chinese Uygur pedigree with primary open-angle glaucoma.Physiological significance and expression of P450s in the developing eye.Contributions of MYOC and CYP1B1 mutations to JOAGScreening of common CYP1B1 mutations in Iranian POAG patients using a microarray-based PrASE protocolClinical and genetic characteristics of primary juvenile-onset open-angle glaucoma (JOAG).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.CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability.Null mutations in LTBP2 cause primary congenital glaucoma.Investigation of the association between the GLC3A locus and normal tension glaucoma in Japanese patients by microsatellite analysis.Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesisAnalysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucomaCYP1B1, a developmental gene with a potential role in glaucoma therapy.Interleukin-20 receptor expression in the trabecular meshwork and its implication in glaucoma.Family-based analysis identified CD2 as a susceptibility gene for primary open angle glaucoma in Chinese Han population.Complex genetic mechanisms in glaucoma: an overviewPrimary Congenital Glaucoma and the Involvement of CYP1B1.Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma.
P2860
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P2860
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
description
2004 nî lūn-bûn
@nan
2004 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2004 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
name
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@ast
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@en
type
label
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@ast
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@en
prefLabel
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@ast
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@en
P2093
P2860
P356
P1476
CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma.
@en
P2093
P2860
P304
P356
10.1136/JMG.2004.020024
P407
P577
2004-09-01T00:00:00Z