FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13) (Q33683098)

28 July 2017

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

1 reference

28 July 2017

1 reference

Crolla JA

1

1 reference

28 July 2017

Cross I

2

1 reference

28 July 2017

Atkey N

3

1 reference

28 July 2017

Wright M

4

1 reference

28 July 2017

Oley CA

5

1 reference

28 July 2017

language of work or name

English

0 references

publication date

1 January 1996

1 reference

Journal of Medical Genetics

28 July 2017

1 reference

28 July 2017

33

1 reference

28 July 2017

1

1 reference

28 July 2017

66-68

1 reference

DiGeorge syndrome: part of CATCH 22.

28 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Position-effect variegation and the new biology of heterochromatin

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Chromatin domains as potential units of eukaryotic gene function

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Pax6: more than meets the eye.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Wilms' tumour: reconciling genetics and biology

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

The human PAX6 gene is mutated in two patients with aniridia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1051815

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

30 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8825052

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1136/JMG.33.1.66

1 reference

28 July 2017

1 reference

28 July 2017

1 reference