(Q35016316)

5 August 2017

title

A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation (English)

1 reference

5 August 2017

1 reference

Ping Hu

1

1 reference

5 August 2017

Lulu Meng

2

1 reference

5 August 2017

Dingyuan Ma

3

1 reference

5 August 2017

Fengchang Qiao

4

1 reference

5 August 2017

Yan Wang

5

1 reference

5 August 2017

Jing Zhou

6

1 reference

5 August 2017

Long Yi

7

1 reference

5 August 2017

Zhengfeng Xu

8

1 reference

5 August 2017

publication date

22 January 2015

1 reference

5 August 2017

published in

Molecular Cytogenetics

1 reference

5 August 2017

volume

8

1 reference

5 August 2017

issue

1

1 reference

5 August 2017

page(s)

3

1 reference

Creative Commons Attribution 4.0 International

5 August 2017

copyright license

start time

22 January 2015

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

Guidelines for genetic study of aniridia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

Large novel deletions detected in Chinese families with aniridia: correlation between genotype and phenotype

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

A 556 kb deletion in the downstream region of the PAX6 gene causes familial aniridia and other eye anomalies in a Chinese family

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

Polymicrogyria and absence of pineal gland due to PAX6 mutation

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

Pax6; a pleiotropic player in development.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

PAX6 in sensory development

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

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

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

The role of Pax6 in brain patterning

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

3' deletions cause aniridia by preventing PAX6 gene expression

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

A FISH approach to defining the extent and possible clinical significance of deletions at the WAGR locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

A LINE element is present at the site of a 300-kb deletion starting in intron 10 of the PAX6 gene in a case of familial aniridia

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

PAX-genes expression during human embryonic development, a preliminary report.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4307215

Deficient auditory interhemispheric transfer in patients with PAX6 mutations.

8 July 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

A common variant upstream of the PAX6 gene influences islet function in man.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

A novel missense mutation (Leu46Val) of PAX6 found in an autistic patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

A novel heterozygous deletion within the 3' region of the PAX6 gene causing isolated aniridia in a large family group.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

A genetic epidemiologic study of candidate genes involved in the optic nerve head morphology

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2FS13039-015-0110-2

Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25628759

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/S13039-015-0110-2

1 reference

Dimensions Publication ID

5 August 2017

0 references

1 reference

5 August 2017

1 reference