Associated Papers
Prevalence and causes of infantile nystagmus in a large population-based Danish cohort.
Hvid K et al.
Acta Ophthalmologica, 2020
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.
Vasilyeva TA et al.
Clinical Genetics, 2017
Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
Riera M et al.
Molecular Genetics & Genomic Medicine, 2017
Eye anomalies and neurological manifestations in patients with PAX6 mutations.
Chien YH et al.
Molecular Vision, 2009
Pax6 3' deletion results in aniridia, autism and mental retardation.
Davis LK et al.
Human Genetics, 2008
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
Graziano C et al.
American Journal of Medical Genetics. Part A, 2007
PAX6 mutations: genotype-phenotype correlations.
Tzoulaki I et al.
Bmc Genetics, 2005
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
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation.
Malandrini A et al.
Clinical Genetics, 2001
Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online.
Neuner-Jehle M et al.
Human Mutation, 1998
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
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