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Aniridia.
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1 reference
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Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
title
Aniridia
(English)
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
main subject
aniridia
1 reference
based on heuristic
inferred from title
author
Veronica van Heyningen
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
Isabel Hanson
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2
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
author name string
Melanie Hingorani
series ordinal
1
1 reference
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Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
publication date
13 June 2012
1 reference
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Europe PubMed Central
PMCID
3449076
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
published in
European Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
volume
20
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
issue
10
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
page(s)
1011-1017
1 reference
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Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
exact match
https://scigraph.springernature.com/pub.10.1038/ejhg.2012.100
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Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia
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Aniridia: current pathology and management.
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30 September 2017
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders
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Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation
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Long-range downstream enhancers are essential for Pax6 expression
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30 September 2017
A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia
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30 September 2017
End stage renal disease in patients with Wilms tumor: results from the National Wilms Tumor Study Group and the United States Renal Data System
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30 September 2017
WAGR syndrome: a clinical review of 54 cases
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30 September 2017
PAX6 mutations: genotype-phenotype correlations
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Polymicrogyria and absence of pineal gland due to PAX6 mutation
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30 September 2017
Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations
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30 September 2017
Pax6; a pleiotropic player in development.
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30 September 2017
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia
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PubMed Central
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30 September 2017
PAX6 in sensory development
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30 September 2017
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.
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Prenatal diagnosis of aniridia.
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30 September 2017
A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD
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30 September 2017
Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly
1 reference
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PubMed Central
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30 September 2017
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects
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PubMed Central
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30 September 2017
Aniridia. A review
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PubMed Central
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30 September 2017
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization
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30 September 2017
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
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PubMed Central
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29 June 2018
Structural grading of foveal hypoplasia using spectral-domain optical coherence tomography a predictor of visual acuity?
1 reference
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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29 June 2018
Phenotypic variability and asymmetry of Rieger syndrome associated with PITX2 mutations.
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29 June 2018
Malformations of the brain in two fetuses with a compound heterozygosity for two PAX6 mutations.
1 reference
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PubMed Central
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22 September 2018
Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.
1 reference
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PubMed Central
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22 September 2018
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Ocular and nonocular findings in patients with aniridia.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Cognitive functioning in humans with mutations of the PAX6 gene.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Characteristics and outcomes of children with the Wilms tumor-Aniridia syndrome: a report from the National Wilms Tumor Study Group
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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22 September 2018
Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.
1 reference
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
retrieved
22 September 2018
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
retrieved
22 September 2018
Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
retrieved
22 September 2018
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation
1 reference
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
retrieved
21 October 2018
PAX6Mutations May Be Associated with High Myopia
2 references
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2012.100
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21 January 2018
stated in
PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3449076
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21 October 2018
Population-based risk estimates of Wilms tumor in sporadic aniridia
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FEJHG.2012.100
retrieved
21 January 2018
Complete sex reversal in a WAGR syndrome patient
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Genetic analysis of chromosome 11p13 and thePAX6 gene in a series of 125 cases referred with aniridia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Aniridia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Deletion and duplication of 11p13-11p14: Reciprocal aberrations derived from a paternal insertion
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Ultrasound biomicroscopic findings in aniridia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Uterine anomalies in Wilms' tumor survivors
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Aniridia and optic nerve hypoplasia
1 reference
stated in
PubMed
reference URL
https://pubmed.ncbi.nlm.nih.gov/22692063
retrieved
12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identifiers
DOI
10.1038/EJHG.2012.100
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PMCID
3449076
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
PubMed ID
22692063
1 reference
stated in
Europe PubMed Central
PMCID
3449076
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22692063%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 February 2020
ResearchGate publication ID
225300681
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