PAX6 gene variations associated with aniridia in south India (Q21261462)

1

Guruswamy

Neethirajan

1 reference

18 August 2022

Subbaiah Ramasamy Krishnadas

2

Subbaiah Ramasamy

Krishnadas

1 reference

18 August 2022

Perumalsamy Vijayalakshmi

3

Perumalsamy

Vijayalakshmi

1 reference

18 August 2022

Shetty Shashikant

4

Shetty

Shashikant

1 reference

18 August 2022

Periasamy Sundaresan

5

Periasamy

Sundaresan

1 reference

A simple salting out procedure for extracting DNA from human nucleated cells

18 August 2022

language of work or name

English

0 references

publication date

16 April 2004

0 references

published in

BMC Medical Genetics

0 references

volume

5

0 references

issue

1

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page(s)

9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

Getting your Pax straight: Pax proteins in development and disease

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

19 March 2017

PAX6 mutations reviewed

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

PAX6 mutations in aniridia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

Iris hypoplasia in mice that lack the alternatively spliced Pax6(5a) isoform

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

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

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

The Human PAX6 Mutation Database

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

Detection of single DNA base differences by competitive oligonucleotide priming

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

Allele-specific enzymatic amplification of beta-globin genomic DNA for diagnosis of sickle cell anemia

12 September 2017

1 reference

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

12 September 2017

1 reference

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Pax6: more than meets the eye.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

27 September 2017

1 reference

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Methods for detection of point mutations: performance and quality assessment. IFCC Scientific Division, Committee on Molecular Biology Techniques.

27 September 2017

1 reference

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[Hereditary foveal hypoplasia - clinical differentiation].

30 May 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

21 January 2018

PAX6 mutations reviewed

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

PAX6 gene mutations and genotype-phenotype correlations in sporadic cases of aniridia from India

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=419353

A novel PAX6 gene mutation (P118R) in a family with congenital nystagmus associated with a variant form of aniridia

29 November 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-5-9

A novel PAX6 gene mutation in an Indian aniridia patient

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15086958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Missense mutations in the PAX6 gene in aniridia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15086958

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-5-9

0 references