A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
about
Homozygous nonsense mutation in the FOXE3 gene as a cause of congenital primary aphakia in humansThe neural crest in cardiac congenital anomaliesThe transcription factor Foxc1 is necessary for Ihh-Gli2-regulated endochondral ossificationAxenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutationsGenetic and genomic analysis of classic aniridia in Saudi Arabia.Whole exome sequence analysis of Peters anomaly.Analysis of copy number variation using whole genome exon-focused array CGH in Korean patients with primary congenital glaucomaAnterior eye development and ocular mesenchyme: new insights from mouse models and human diseasesA Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development.Chromosomal abnormalities and glaucoma: a case of congenital glaucoma with trisomy 8q22-qter/ monosomy 9p23-pter.Absence of NR2E1 mutations in patients with aniridia.A novel forkhead box C1 gene mutation in a Korean family with Axenfeld-Rieger syndromeMolecular and developmental mechanisms of anterior segment dysgenesis.Congenital corneal opacities - a surgical approach to nomenclature and classification.Anterior segment mesenchymal dysgenesis in a large Australian family is associated with the recurrent 17 bp duplication in PITX3.Congenital corneal opacities: a review with a focus on genetics.Chromosomal rearrangements and novel genes in disorders of eye development, cataract and glaucoma.Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling.Molecular analysis of FOXC1 in subjects presenting with severe developmental eye anomaliesGlaucoma genetics.Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger SyndromeEmerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease.Primary congenital and developmental glaucomas.Foxc1 Regulates Early Cardiomyogenesis and Functional Properties of Embryonic Stem Cell Derived Cardiomyocytes.Glaucoma spectrum and age-related prevalence of individuals with FOXC1 and PITX2 variants.Ocular surface development and gene expression.Clinical utility gene card for: Axenfeld-Rieger syndrome.Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalitiesA Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations.Uptake and Diagnostic Yield of Chromosomal Microarray in an Australian Child Development Clinic.Axenfeld-Rieger Syndrome Associated with Congenital Glaucoma and Cytochrome P4501B1 Gene Mutations.The transcription factor Foxc1a in zebrafish directly regulates expression of nkx2.5, encoding a transcriptional regulator of cardiac progenitor cells.Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity.Congenital hypothyroidism in Peters plus syndrome.Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
P2860
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P2860
A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene
description
2003 nî lūn-bûn
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2003 թուականի Մարտին հրատարակուած գիտական յօդուած
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2003 թվականի մարտին հրատարակված գիտական հոդված
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2003年の論文
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2003年論文
@yue
2003年論文
@zh-hant
2003年論文
@zh-hk
2003年論文
@zh-mo
2003年論文
@zh-tw
2003年论文
@wuu
name
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@ast
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en-gb
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@nl
type
label
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@ast
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en-gb
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@nl
prefLabel
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@ast
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en-gb
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@nl
P2093
P50
P1476
A family with Axenfeld-Rieger ...... (Phe112Ser) in the FOXC1 gene
@en
P2093
Darryl Y Nishimura
Robert A Honkanen
Ruth E Swiderski
Steven R Bennett
Sungpyo Hong
P304
P356
10.1016/S0002-9394(02)02061-5
P407
P577
2003-03-01T00:00:00Z