Associated Papers
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2024
A bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Zucco J et al.
Journal of Human Genetics, 2024
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction.
Williamson KA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
The Spectrum of PAX6 Mutations and Genotype-Phenotype Correlations in the Eye.
Lima Cunha D et al.
Genes, 2019
The genetic architecture of aniridia and Gillespie syndrome.
Hall HN et al.
Human Genetics, 2019
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.
Wang P et al.
Translational Vision Science & Technology, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
Parental Mosaicism in PAX6 Causes Intra-Familial Variability: Implications for Genetic Counseling of Congenital Aniridia and Microphthalmia.
Tarilonte M et al.
Frontiers in Genetics, 2018
Mutation spectrum of PAX6 in Chinese patients with aniridia.
Zhang X et al.
Molecular Vision, 2011
A novel PAX6 mutation in a large Chinese family with aniridia and congenital cataract.
Cai F et al.
Molecular Vision, 2010
Clinical and molecular aspects of aniridia.
Kokotas H et al.
Clinical Genetics, 2010
Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities.
Dansault A et al.
Molecular Vision, 2007
Novel mutations of the PAX6 gene identified in Chinese patients with aniridia.
Wang P et al.
Molecular Vision, 2006
PAX6 gene variations associated with aniridia in south India.
Neethirajan G et al.
Bmc Medical Genetics, 2004
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
Vincent MC et al.
European Journal of Human Genetics : Ejhg, 2003
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature.
Kondo-Saitoh A et al.
European Journal of Ophthalmology, 0