Axenfeld-Rieger syndrome. A spectrum of developmental disorders
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Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressureA model for the molecular underpinnings of tooth defects in Axenfeld-Rieger syndromeAutosomal dominant iridogoniodysgenesis anomaly maps to 6p25The Genetics and the Genomics of Primary Congenital GlaucomaLinkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4Forkhead box transcription factor FoxC1 preserves corneal transparency by regulating vascular growthFoxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 geneFamilial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?Analysis of RNA splicing defects in PITX2 mutants supports a gene dosage model of Axenfeld-Rieger syndrome.Retinal detachment in Axenfeld-Rieger syndrome.Rieger syndrome locus: a new reciprocal translocation t(4;12)(q25;q15) and a deletion del(4)(q25q27) both break between markers D4S2945 and D4S193Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 MutationAnaesthetic challenges in a patient with Axenfeld Rieger Syndrome.Genetic and genomic analysis of classic aniridia in Saudi Arabia.BMP4 loss-of-function mutations in developmental eye disorders including SHORT syndromeMolecular characterisation of congenital glaucoma in a consanguineous Canadian community: a step towards preventing glaucoma related blindness.Molecular and developmental mechanisms of anterior segment dysgenesis.Heterozygous Pitx2 Null Mice Accurately Recapitulate the Ocular Features of Axenfeld-Rieger Syndrome and Congenital Glaucoma.Aetiology of severe visual impairment and blindness in microphthalmosDevelopmental disorders of the dentition: an update.Noggin producing, MyoD-positive cells are crucial for eye development.Iridoschisis: case report and review of the literature.The corneal endothelium.Neurocristopathy syndrome: review of four cases.Experimental models of anterior segment dysgenesis.The 6p25 deletion syndrome: An update on a rare neurocristopathy.A novel PITX2 mutation causing iris hypoplasia.Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs.Primary congenital and developmental glaucomas.Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental field.FoxC1 is essential for vascular basement membrane integrity and hyaloid vessel morphogenesis.A comparative approach to anterior segment dysgenesis.Transgenic models for eye malformations.Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs.The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literatureUnusual presentation in Axenfeld-Rieger syndrome.Oculocutaneous Albinism associated with Axenfeld's Anomaly: Three case reports.Early-onset glaucoma in Axenfeld-Rieger anomaly: long-term surgical results and visual outcome.
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P2860
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
description
1985 nî lūn-bûn
@nan
1985 թուականին հրատարակուած գիտական յօդուած
@hyw
1985 թվականին հրատարակված գիտական հոդված
@hy
1985年の論文
@ja
1985年論文
@yue
1985年論文
@zh-hant
1985年論文
@zh-hk
1985年論文
@zh-mo
1985年論文
@zh-tw
1985年论文
@wuu
name
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@ast
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@en
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@nl
type
label
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@ast
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@en
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@nl
prefLabel
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@ast
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@en
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@nl
P2093
P3181
P1476
Axenfeld-Rieger syndrome. A spectrum of developmental disorders
@en
P2093
G K Klintworth
M B Shields
R Thresher
P304
P3181
P356
10.1016/0039-6257(85)90205-X
P407
P577
1985-01-01T00:00:00Z