(Q24658076)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

review article

1 reference

title

Pax6 3' deletion results in aniridia, autism and mental retardation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

0 references

1 reference

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Val C. Sheffield

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

Thomas H Wassink

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

author name string

L K Davis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

K J Meyer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

D S Rudd

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

A L Librant

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

language of work or name

English

0 references

publication date

6 March 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

number of pages

8

1 reference

inferred from page(s)

published in

Human Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

volume

123

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

page(s)

371-378

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

PAX6 mutations: genotype-phenotype correlations

3 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

3' deletions cause aniridia by preventing PAX6 gene expression

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Missense mutation in the alternative splice region of the PAX6 gene in eye anomalies

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Childhood autism and associated comorbidities

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Detection of large-scale variation in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Developmental malformations of the eye: the role of PAX6, SOX2 and OTX2

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

WAGR syndrome: a clinical review of 54 cases

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Large-scale copy number polymorphism in the human genome

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Polymicrogyria and absence of pineal gland due to PAX6 mutation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Characterization of a novel gene adjacent to PAX6, revealing synteny conservation with functional significance

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

PAX6 missense mutation in isolated foveal hypoplasia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Analysis of Pax6 expression using a BAC transgene reveals the presence of a paired-less isoform of Pax6 in the eye and olfactory bulb

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Genetic mechanisms underlying abnormal neuronal migration in classical lissencephaly

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Long-range downstream enhancers are essential for Pax6 expression

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

PAX6 and congenital eye malformations.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Mutations of the PAX6 Gene Detected in Patients with a Variety of Optic-Nerve Malformations

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

PAX6 in sensory development

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

A new set of primers for mutation analysis of the human PAX6 gene

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

The Human PAX6 Mutation Database

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

New 3' elements control Pax6 expression in the developing pretectum, neural retina and olfactory region

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Functional analysis of paired box missense mutations in the PAX6 gene

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation

30 May 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-008-0484-X

Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Heterozygous PAX6 mutation, adult brain structure and fronto-striato-thalamic function in a human family

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Conserved elements in Pax6 intron 7 involved in (auto)regulation and alternative transcription

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Direct and concentration-dependent regulation of the proneural gene Neurogenin2 by Pax6.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Psychiatric disorder and cognitive function in a family with an inherited novel mutation of the developmental control gene PAX6.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Brief report: the association of neurofibromatosis type 1 and autism

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Missense mutation at the C terminus of the PAX6 gene in ocular anterior segment anomalies.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

The Sensitivity of Single-Strand Conformation Polymorphism Analysis for the Detection of Single Base Substitutions

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2719768

Missense mutations in the PAX6 gene in aniridia

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18322702

12 December 2020

inferred from PubMed ID database lookup

A high-resolution survey of deletion polymorphism in the human genome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18322702

12 December 2020

inferred from PubMed ID database lookup

Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/18322702

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S00439-008-0484-X

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

3 January 2020

1046781219

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:18322702%20AND%20SRC:MED&resulttype=core&format=json

3 January 2020

PubMed publication ID

18322702

2 references