(Q40752110)

23 September 2017

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

1 reference

23 September 2017

1 reference

Veronica van Heyningen

series ordinal

2

1 reference

23 September 2017

John A Crolla

1

1 reference

PMCID

385089

23 September 2017

language of work or name

English

0 references

publication date

17 October 2002

1 reference

American Journal of Human Genetics

23 September 2017

1 reference

23 September 2017

71

1 reference

23 September 2017

1138-1149

1 reference

23 September 2017

5

1 reference

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

23 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Genome architecture, rearrangements and genomic disorders

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye.

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

3' deletions cause aniridia by preventing PAX6 gene expression

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Prenatal diagnosis of mosaicism for a del(22)(q13).

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

24 September 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=385089

The reticulocalbin gene maps to the WAGR region in human and to the Small eye Harwell deletion in mouse

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13)

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

PAX6 mutations in aniridia

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Del11p13/nephroblastoma without aniridia

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Molecular analysis of chromosome 11 deletions in aniridia-Wilms tumor syndrome

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

The human PAX6 gene is mutated in two patients with aniridia

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Aniridia-Wilms’ tumor association: evidence for specific deletion of 11p13

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Deletion of 22q11 in two brothers with different phenotype

24 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Molecular analysis of aniridia patients for deletions involving the Wilms' tumor gene

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Fluorescence in situ hybridisation studies provide evidence for somatic mosaicism in de novo dystrophin gene deletions

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Example of somatic mosaicism in a series of de novo neurofibromatosis type 1 cases due to a maternally derived deletion.

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Familial isolated aniridia associated with a translocation involving chromosomes 11 and 22 [t(11;22)(p13;q12.2)].

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

17 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

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

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Mosaic terminal del(19)(q13.33:) in a girl with seizures and mental retardation

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Fluorescence in situ hybridization detectable mosaicism for Angelman syndrome with biparental methylation.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Mutation in the PAX6 gene in twenty patients with aniridia.

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Recurrent Williams-Beuren syndrome in a sibship suggestive of maternal germ-line mosaicism

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci

19 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385089

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

19 August 2018

1 reference

12 December 2020

Molecular confirmation of germ line mosaicism for a submicroscopic deletion of chromosome 22q11

1 reference

12 December 2020

Position effect in human genetic disease

1 reference

12 December 2020

Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene

1 reference

12 December 2020

Population-based risk estimates of Wilms tumor in sporadic aniridia

1 reference

12 December 2020

Prenatal diagnosis of mosaicism for deletion 22q13.3.

1 reference

12 December 2020

Prediction by FISH analysis of the occurrence of Wilms tumor in aniridia patients

1 reference

12 December 2020

Familial aniridia and translocation t(4;11)(q22;p13) without Wilms' tumor

1 reference

12 December 2020

The distal region of 11p13 and associated genetic diseases

1 reference

12 December 2020

Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization

1 reference

12 December 2020

Identifiers

DOI

10.1086/344396

1 reference

23 September 2017

1 reference

23 September 2017

1 reference

PMCID

385089