Associated Papers
A Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Yoshino Y et al.
Molecular Genetics & Genomic Medicine, 2024
Genetic changes and testing associated with childhood glaucoma: A systematic review.
Kumar A et al.
Plos One, 2024
38386645 (PubMed )
Supplement: pone.0298883.s003.xlsx › Case_Studies
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
35882526 (PubMed )
Supplement: jmg-2022-108646supp001.pdf
Oncogenic Mutations in the DNA-Binding Domain of FOXO1 that Disrupt Folding: Quantitative Insights from Experiments and Molecular Simulations.
Novack D et al.
Biochemistry, 2022
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1.
Ahmed MR et al.
Genes, 2022
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
34809627 (PubMed )
Supplement: 12920_2021_1130_MOESM1_ESM.xlsx › ARS
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.
Huang L et al.
Journal of Ophthalmology, 2019
Novel de novo FOXC1 nonsense mutation in an Axenfeld-Rieger syndrome patient.
Carmona S et al.
American Journal of Medical Genetics. Part A, 2017
Comparison of Bioinformatics Prediction, Molecular Modeling, and Functional Analyses of FOXC1 Mutations in Patients with Axenfeld-Rieger Syndrome.
Seifi M et al.
Human Mutation, 2017
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect.
McEntagart M et al.
American Journal of Human Genetics, 2016
27108798 (PubMed )
Supplement: mmc2.pdf
A Novel Mutation of FOXC1 (R127L) in an Axenfeld-Rieger Syndrome Family with Glaucoma and Multiple Congenital Heart Diseases.
Du RF et al.
Ophthalmic Genetics, 2016
A Novel Homozygous Mutation in FOXC1 Causes Axenfeld Rieger Syndrome with Congenital Glaucoma.
Micheal S et al.
Plos One, 2016
Congenital aniridia: etiology, manifestations and management.
Samant M et al.
Expert Review of Ophthalmology, 2016
'Congenital' nystagmus may hide various ophthalmic diagnoses.
Holmström G et al.
Acta Ophthalmologica, 2014
Dysfunction of the stress-responsive FOXC1 transcription factor contributes to the earlier-onset glaucoma observed in Axenfeld-Rieger syndrome patients.
Ito YA et al.
Cell Death & Disease, 2014
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.
Ito YA et al.
Investigative Ophthalmology & Visual Science, 2009
A review of the clinical and genetic aspects of aniridia.
Lee HJ et al.
Seminars in Ophthalmology, 0
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