Aniridia
|
1.000 |
Biomarker
|
disease |
CTD_human |
The aim of the present study was to investigate the genetic variations of PAX6 in two sporadic patients from southern China with classic congenital aniridia and cataract.
|
30221735 |
2018 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
|
25342853 |
2015 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
|
24033328 |
2014 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The PAX6 mutation spectrum in Chinese aniridia patients is comparable to that reported in other ethnic groups.
|
21850189 |
2011 |
Aniridia
|
1.000 |
Biomarker
|
disease |
CTD_human |
Pax6 3' deletion results in aniridia, autism and mental retardation.
|
18322702 |
2008 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.
|
17406642 |
2007 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
|
17595013 |
2007 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
|
17148041 |
2006 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of a human PAX6 homeobox mutant.
|
16493447 |
2006 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects.
|
12634864 |
2003 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutations in the DNA-binding region and termination codon in PAX6.
|
12552561 |
2003 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology.
|
11826019 |
2002 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function.
|
11309364 |
2001 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Congenital aniridia is due to deletions and point mutations in the PAX6 gene.
|
11553050 |
2001 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Mutation in the PAX6 gene in twenty patients with aniridia.
|
10737978 |
2000 |
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 |
GeneticVariation
|
disease |
UNIPROT |
Ten novel mutations found in Aniridia.
|
9792406 |
1998 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
These missense mutations give rise to haploinsufficiency by another route, because the missense mutations presented here resulted in an aniridia phenotype indistinguishable from that caused by a heterozygous deletion of the entire PAX6 gene.
|
9856761 |
1998 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of paired box missense mutations in the PAX6 gene.
|
9147640 |
1997 |
Aniridia
|
1.000 |
GermlineCausalMutation
|
disease |
ORPHANET |
Twelve aniridia patients, five with a family history and seven presumed to be sporadic, were exhaustively screened in order to test what proportion of people with aniridia, uncomplicated by associated anomalies, carry mutations in the human PAX6 gene.
|
9138149 |
1997 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
|
9281415 |
1997 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Three novel aniridia mutations in the human PAX6 gene.
|
7550230 |
1995 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial.
|
8364574 |
1993 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Photoreactivation of superoxide dismutase by intensive red (laser) light.
|
2855731 |
1988 |