Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome
about
A second locus for Rieger syndrome maps to chromosome 13q14Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25Human PRKC apoptosis WT1 regulator is a novel PITX2-interacting protein that regulates PITX2 transcriptional activity in ocular cells.From the laboratory to the clinic: molecular genetic testing in pediatric ophthalmology.Retinal detachment in Axenfeld-Rieger syndrome.Heterogeneity in dominant anterior segment malformations.Mitochondrial damage in the trabecular meshwork occurs only in primary open-angle glaucoma and in pseudoexfoliative glaucomaClinical course during 40-year follow-up of Axenfeld-Rieger syndrome in a Japanese family.Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsMapping of a congenital microcoria locus to 13q31-q32Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein.Asymmetric phenotype of Axenfeld-Rieger anomaly and aniridia associated with a novel PITX2 mutation.Oral and craniofacial clinical signs associated to genetic conditions in human identification part I: a review.A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.FOXC1 modulates MYOC secretion through regulation of the exocytic proteins RAB3GAP1, RAB3GAP2 and SNAP25.A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeA novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome.Glaucoma genetics.Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromePrimary congenital and developmental glaucomas.Novel occurrence of axenfeld: Rieger syndrome in a patient with blepharophimosis ptosis epicanthus inversus syndrome.Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.Magnetic resonance imaging findings in Axenfeld-Rieger syndrome.Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.Unusual presentation in Axenfeld-Rieger syndrome.Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.Accurate prediction of functional, structural, and stability changes in PITX2 mutations using in silico bioinformatics algorithms.
P2860
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P2860
Axenfeld-Rieger syndrome: a theory of mechanism and distinctions from the iridocorneal endothelial syndrome
description
1983 nî lūn-bûn
@nan
1983 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1983 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1983年の論文
@ja
1983年論文
@yue
1983年論文
@zh-hant
1983年論文
@zh-hk
1983年論文
@zh-mo
1983年論文
@zh-tw
1983年论文
@wuu
name
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@ast
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@en
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@nl
type
label
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@ast
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@en
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@nl
prefLabel
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@ast
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@en
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@nl
P2860
P1476
Axenfeld-Rieger syndrome: a th ...... docorneal endothelial syndrome
@en
P2093
Shields MB
P2860
P304
P577
1983-01-01T00:00:00Z