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 |
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 |
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 |
In this paper we describe four additional PAX6 point mutations in aniridia patients, both sporadic and familial.
|
8364574 |
1993 |
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 |
Functional analysis of paired box missense mutations in the PAX6 gene.
|
9147640 |
1997 |
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 |
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 |
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
|
17595013 |
2007 |
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 |
Combined SSCP/heteroduplex analysis in the screening for PAX6 mutations.
|
9281415 |
1997 |
Aniridia
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Molecular analysis of a human PAX6 homeobox mutant.
|
16493447 |
2006 |
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 |
Photoreactivation of superoxide dismutase by intensive red (laser) light.
|
2855731 |
1988 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation.
|
17148041 |
2006 |
Aniridia
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Heterozygous defects in PAX6 gene and congenital hypopituitarism.
|
25342853 |
2015 |
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Three novel aniridia mutations in the human PAX6 gene.
|
7550230 |
1995 |
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 |
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 |