Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
The Systemic Genotype-Phenotype Characterization of PAX6-Related Eye Disease in 164 Chinese Families.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2024
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2
Novel clinical presentation and PAX6 mutation in families with congenital aniridia.
Guo R et al.
Frontiers in Medicine, 2022
Novel mutations of the PAX6, FOXC1, and PITX2 genes cause abnormal development of the iris in Vietnamese individuals.
Nguyen HH et al.
Molecular Vision, 2021
Nonsense suppression induced readthrough of a novel PAX6 mutation in patient-derived cells of congenital aniridia.
Liu X et al.
Molecular Genetics & Genomic Medicine, 2020
Recurrent PAX 6 mutation in a Chinese family with congenital aniridia, progressive cataracts and mental retardation.
Chen DD et al.
European Journal of Ophthalmology, 2020
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
31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation.
Sannan NS et al.
Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2017
Assessment of PAX6 alleles in 66 families with aniridia.
Bobilev AM et al.
Clinical Genetics, 2016
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey SK et al.
Molecular Vision, 2015
Mutation analysis of paired box 6 gene in inherited aniridia in northern China.
Chen P et al.
Molecular Vision, 2013
Clinical and molecular aspects of aniridia.
Kokotas H et al.
Clinical Genetics, 2010
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.
Redeker EJ et al.
Molecular Vision, 2008
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