Associated Papers
Genetic Basis of Non-Syndromic Childhood Glaucoma Associated with Anterior Segment Dysgenesis: A Narrative Review.
Cronbach N et al.
Pharmaceuticals (basel, Switzerland), 2025
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
Axenfeld-Rieger syndrome: more than meets the eye.
Reis LM et al.
Journal of Medical Genetics, 2023
Adult-onset bestrophinopathy mistaken as central serous chorioretinopathy.
Khan AO et al.
Ophthalmic Genetics, 2022
A novel variant in FOXC1 associated with atypical Axenfeld-Rieger syndrome.
Wang R et al.
Bmc Medical Genomics, 2021
A novel missense mutation of FOXC1 in an Axenfeld-Rieger syndrome patient with a congenital atrial septal defect and sublingual cyst: a case report and literature review.
Li K et al.
Bmc Medical Genomics, 2021
Heterogeneity of Axenfeld-Rieger Syndrome: Molecular and Clinical Findings in Chinese Patients.
Zhang Y et al.
Frontiers in Genetics, 2021
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
Improving molecular diagnosis of aniridia and WAGR syndrome using customized targeted array-based CGH.
Blanco-Kelly F et al.
Plos One, 2017
Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis.
Cheong SS et al.
American Journal of Human Genetics, 2016
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
A novel CYP1B1 mutation with congenital glaucoma and total aniridia.
Alzuhairy S et al.
Ophthalmic Genetics, 2015
Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations.
Tümer Z et al.
European Journal of Human Genetics : Ejhg, 2009
Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia.
Ito YA et al.
Investigative Ophthalmology & Visual Science, 2009
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
Khan AO et al.
Ophthalmic Genetics, 2008
Novel mutations of FOXC1 and PITX2 in patients with Axenfeld-Rieger malformations.
Weisschuh N et al.
Investigative Ophthalmology & Visual Science, 2006
The wing 2 region of the FOXC1 forkhead domain is necessary for normal DNA-binding and transactivation functions.
Murphy TC et al.
Investigative Ophthalmology & Visual Science, 2004
Essential structural and functional determinants within the forkhead domain of FOXC1.
Saleem RA et al.
Nucleic Acids Research, 2004
Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1.
Saleem RA et al.
Human Molecular Genetics, 2003
Mutation spectrum of FOXC1 and clinical genetic heterogeneity of Axenfeld-Rieger anomaly in India.
Komatireddy S et al.
Molecular Vision, 2003