|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
|
27804176 |
2017 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
|
24914578 |
2016 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Hypo- and hypermorphic FOXC1 mutations in dominant glaucoma: transactivation and phenotypic variability.
|
25786029 |
2015 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation.
|
23239455 |
2013 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.
|
19279310 |
2009 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of a novel L130F missense mutation in FOXC1.
|
17210863 |
2007 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the FOXC1 gene in Japanese patients with Axenfeld-Rieger syndrome.
|
17653043 |
2007 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
|
16936096 |
2006 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis.
|
16449236 |
2006 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
|
15277473 |
2004 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Axenfeld-Rieger anomaly: a novel mutation in the forkhead box C1 (FOXC1) gene in a 4-generation family.
|
15477465 |
2004 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Identification and analysis of a novel mutation in the FOXC1 forkhead domain.
|
14578375 |
2003 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
|
14506133 |
2003 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
|
12592227 |
2003 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutation in FOXC1 wing region causing Axenfeld-Rieger anomaly.
|
12454026 |
2002 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye.
|
11170889 |
2001 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1.
|
11179011 |
2001 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel (Pro79Thr) mutation in the FKHL7 gene in a Japanese family with Axenfeld-Rieger syndrome.
|
11589884 |
2001 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Screening for mutations of Axenfeld-Rieger syndrome caused by FOXC1 gene in Japanese patients.
|
11740218 |
2001 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly.
|
9792859 |
1998 |
|
AXENFELD-RIEGER SYNDROME, TYPE 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|