(Q24517925)

English

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Localisation of a 10q breakpoint within the PAX2 gene in a patient with a de novo t(10;13) translocation and optic nerve coloboma-renal disease (English)

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

author name string

Narahara K

1

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Baker E

2

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Ito S

3

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Yokoyama Y

4

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Yu S

5

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Hewitt D

6

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Sutherland GR

7

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Eccles MR

8

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Richards RI

9

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

language of work or name

0 references

publication date

1 March 1997

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

34

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

3

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

213-216

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

19 March 2017

Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

19 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

19 March 2017

Mutation of PAX2 in two siblings with renal-coloboma syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Reflux nephropathy: the glomerular lesion and progression of renal failure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Mutation of the PAX2 gene in a family with optic nerve colobomas, renal anomalies and vesicoureteral reflux.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Cloning a balanced translocation associated with DiGeorge syndrome and identification of a disrupted candidate gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Expression of the PAX2 gene in human fetal kidney and Wilms' tumor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

27 September 2017

Report of the first international workshop on human chromosome 10 mapping 1995.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

30 May 2018

Optic nerve coloboma associated with renal disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

30 May 2018

Pax2, a new murine paired-box-containing gene and its expression in the developing excretory system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

30 May 2018

[On the clinical picture of Handmann's anomaly of the optic nerve Morning glory syndrome? (author's transl)]

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

30 May 2018

Autosomal dominant optic nerve colobomas, vesicoureteral reflux, and renal anomalies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050895

29 November 2018

"Cat eye syndrome" with right renal agenesis. Report of a case and review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The morning glory syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/9132492

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.34.3.213

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

PMC publication ID

0 references

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 July 2017

ResearchGate publication ID

0 references

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