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
A large cohort study of prenatal exome sequencing redefines diagnosis in fetal corpus callosum anomalies.
Héron D et al.
Brain : a Journal of Neurology, 2025
40905141 (PubMed )
Supplement: awaf311_supplementary_data.zip › brain-2024-03287-File005.xlsx › Feuil1
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
Mutational spectrum in a Chinese cohort with congenital cataracts.
Liu HL et al.
Molecular Genetics & Genomic Medicine, 2023
37337769 (PubMed )
Supplement: MGG3-11-e2196-s002.xlsx › Sheet1
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
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
31700164 (PubMed )
Supplement: 41436_2019_685_MOESM1_ESM.pdf
Phenotype Variability in Czech Patients Carrying PAX6 Disease-Causing Variants.
Moravikova J et al.
Folia Biologica, 2020
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
31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE
Novel mutations in PAX6, OTX2 and NDP in anophthalmia, microphthalmia and coloboma.
Deml B et al.
European Journal of Human Genetics : Ejhg, 2016
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia.
Dubey SK et al.
Molecular Vision, 2015
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