(Q41898308)

13 October 2017

Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia (English)

1 reference

13 October 2017

1 reference

Shagun Aggarwal

1

1 reference

13 October 2017

Worapoj Jinda

2

1 reference

13 October 2017

Chanin Limwongse

3

1 reference

13 October 2017

La-ongsri Atchaneeyasakul

4

1 reference

13 October 2017

Shubha R Phadke

5

1 reference

13 October 2017

7 May 2011

1 reference

13 October 2017

1 reference

13 October 2017

17

1 reference

13 October 2017

1305-1309

1 reference

PAX6 mutations: genotype-phenotype correlations

13 October 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

PAX6 in sensory development

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

Killing the messenger: new insights into nonsense-mediated mRNA decay

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

PAX6 mutations in aniridia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

Detailed ophthalmologic evaluation of 43 individuals with PAX6 mutations.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3103739

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

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21633710

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21633710

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

13 October 2017

1 reference