|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Because of the corneal phenotypic similarity to aniridia-related keratopathy, it was hypothesized that the affected patients might have a dominantly inherited mutation of PAX6 on chromosome 11.
|
22146551 |
2012 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia.
|
11479730 |
2001 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We report two submicroscopic de novo deletions of 11p13 that cause aniridia but are located >11 kb from the 3' end of PAX6.
|
11087823 |
2000 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We screened the PAX6 gene by direct sequencing in three groups of patients: those affected by aniridia; those with diverse ocular manifestations; and those with Peters' anomaly.
|
17417613 |
2007 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Unlike the more common dominant and sporadic forms of aniridia, there has been no significant association with PAX6 mutations in individuals with GS and the mode of inheritance of the disease had long been regarded as uncertain.
|
27108797 |
2016 |
|
Aniridia
|
1.000 |
Biomarker
|
disease |
BEFREE |
PAX6-related Aniridia is a sight-threatening disease involving progression of secondary glaucoma and aniridia related keratopathy (ARK).
|
30292490 |
2019 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel heterozygous PAX6 deletion c.1251_1353del103 (p.Pro418Serfs*87) affecting exon 14 and the 3'-untranslated-region (3'-UTR) was identified in the congenital aniridia family.
|
22550392 |
2012 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
|
10234503 |
1999 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Here we present four novel PAX6 missense mutations, two in association with atypical phenotypes: ectopia pupillae (displaced pupils) and congenital nystagmus (searching gaze), and two in association with more recognizable aniridia phenotypes.
|
9931324 |
1999 |
|
Aniridia
|
1.000 |
Biomarker
|
disease |
HPO |
|
|
|
|
Aniridia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Pax6 3' deletion results in aniridia, autism and mental retardation.
|
18322702 |
2008 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial disease.
|
17031679 |
2007 |
|
Aniridia
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Real-time PCR was used to determine the PAX6 messenger ribonucleic acid(mRNA) level in patients with aniridia and in unaffected family members.
|
23734086 |
2013 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Thus, this study presents a family that segregates a PAX6 mutation with nystagmus and foveal hypoplasia in the absence of iris abnormalities.
|
23942204 |
2014 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In the present study, an Italian casistic of aniridia patients has been investigated and a quantitative polymerase chain reaction (PCR) assay to detect PAX6 gene deletions was set up.
|
17679951 |
2007 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Two patients with aniridia together with other WAGR malformations had deletions involving all four cosmids.
|
9132491 |
1997 |
|
Aniridia
|
1.000 |
Biomarker
|
disease |
BEFREE |
The small eye (Sey) mouse is a model of PAX6-aniridia syndrome (aniridia).
|
30258099 |
2018 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A novel deletion in the PAX6 gene was identified in a Chinese family associated with aniridia, which expands the spectrum of the PAX6 mutation and its associated phenotype.
|
30621664 |
2019 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
PAX6 haploinsufficiency ( +/-) can occur due to mutations involving only PAX6 in patients with isolated aniridia or as contiguous gene deletions in patients with Wilms tumor, aniridia, genitourinary anomalies, and range of developmental and intellectual disabilities syndrome.
|
29343077 |
2018 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
We present the further characterisation of two aniridia pedigrees in which the disease segregates with chromosomal rearrangements which involve 11p13 but do not disrupt the PAX6 gene.
|
7795596 |
1995 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.
|
9138149 |
1997 |
|
Aniridia
|
1.000 |
Biomarker
|
disease |
BEFREE |
This study describes detailed clinical findings, including videonystagmography and fundus photography findings and emphasizes the importance of screening for the PAX6 gene in patients who present with CN in the absence of aniridia, as this will further elucidate the known phenotypes of PAX6-related diseases.
|
30986449 |
2019 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Ten novel mutations found in Aniridia.
|
9792406 |
1998 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in PAX6 can lead to varieties of autosomal-dominant ocular malformations with aniridia as the major clinical signs.
|
21321669 |
2011 |
|
Aniridia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
In mutations with partial loss of pax6 function eye development is initially relatively normal but froglets show an underdeveloped iris, similar to the classic phenotype (aniridia) seen in human patients with PAX6 mutations.
|
25724657 |
2015 |