Condition: Aniridia type 1


rs121907922 in ELP4;PAX6 gene and Aniridia type 1 PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 27431685 2016 Identification of a novel frameshift heterozygous deletion in exon 8 of the PAX6 gene in a pedigree with aniridia.

PMID 29618921 2018 PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia.

PMID 12552561 2003 Missense mutations in the DNA-binding region and termination codon in PAX6.

PMID 11309364 2001 Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.

rs1057517785 in PAX6 gene and Aniridia type 1 PMID 26661695 2016 Assessment of PAX6 alleles in 66 families with aniridia.

PMID 22692063 2012 Aniridia.

PMID 8111279 1994 Safe blood? HTLV-1 infection is crippling.

PMID 21397818 2011 A case of aniridia with unilateral Peters anomaly.

PMID 19898691 2009 Eye anomalies and neurological manifestations in patients with PAX6 mutations.

PMID 28321846 2017 Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations.

PMID 26535646 2015 A rare PAX6 mutation in a Chinese family with congenital aniridia.

PMID 21850189 2011 Mutation spectrum of PAX6 in Chinese patients with aniridia.

PMID 16712695 2006 Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2.

PMID 10234503 1999 Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

PMID 9482572 1998 PAX6 mutations reviewed.

PMID 27081502 2014 Molecular analysis of the PAX6 gene for aniridia and congenital cataracts in Tunisian families.

PMID 21423868 2011 Genetic and genomic analysis of classic aniridia in Saudi Arabia.

PMID 26849621 2016 Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations.

PMID 19862335 2009 PAX6 aniridia and interhemispheric brain anomalies.

PMID 23761016 2013 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia.

PMID 27455012 2016 [Analysis of PAX6 gene mutation in a family affected with congenital aniridia].

PMID 10737978 2000 Mutation in the PAX6 gene in twenty patients with aniridia.

PMID 15889018 2005 A novel PAX6 gene mutation in a Chinese family with aniridia.

PMID 24737507 2014 Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia.

PMID 27307692 2016 Distribution of gene mutations in sporadic congenital cataract in a Han Chinese population.

PMID 18241071 2008 Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia.

PMID 8364574 1993 PAX6 mutations in aniridia.

PMID 12634864 2003 Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.

PMID 18483559 2008 Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders.

PMID 20577777 2010 Pax6 localizes to chromatin-rich territories and displays a slow nuclear mobility altered by disease mutations.

PMID 15579687 2004 Genetic analysis of the Caenorhabditis elegans pax-6 locus: roles of paired domain-containing and nonpaired domain-containing isoforms.

PMID 9792406 1998 Ten novel mutations found in Aniridia.