(Q43104703)

14 November 2017

Detection of an atypical 22q11 deletion that has no overlap with the DiGeorge syndrome critical region (English)

1 reference

14 November 2017

1 reference

O'Donnell H

1

1 reference

14 November 2017

McKeown C

2

1 reference

14 November 2017

Gould C

3

1 reference

14 November 2017

Morrow B

4

1 reference

14 November 2017

Scambler P

5

1 reference

14 November 2017

language of work or name

English

0 references

publication date

1 June 1997

1 reference

American Journal of Human Genetics

14 November 2017

1 reference

14 November 2017

60

1 reference

14 November 2017

6

1 reference

14 November 2017

1544-1548

1 reference

Autosomal dominant "Opitz" GBBB syndrome due to a 22q11.2 deletion.

14 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

A transcription map of the DiGeorge and velo-cardio-facial syndrome minimal critical region on 22q11.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Identification of a novel transcript disrupted by a balanced translocation associated with DiGeorge syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Isolation of a putative transcriptional regulator from the region of 22q11 deleted in DiGeorge syndrome, Shprintzen syndrome and familial congenital heart disease

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Relationship of the apolipoprotein E polymorphism with carotid artery atherosclerosis

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

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

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Isolation of a gene encoding an integral membrane protein from the vicinity of a balanced translocation breakpoint associated with DiGeorge syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Cloning of a balanced translocation breakpoint in the DiGeorge syndrome critical region and isolation of a novel potential adhesion receptor gene in its vicinity.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Microdeletions within 22q11 associated with sporadic and familial DiGeorge syndrome.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Velo-cardio-facial syndrome associated with chromosome 22 deletions encompassing the DiGeorge locus

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11.

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

A high-density YAC contig map of human chromosome 22

25 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1716117

Interstitial 22q11 microdeletion excluding the ADU breakpoint in a patient with DiGeorge syndrome

3 November 2018

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2964250-5

Deletions within chromosome 22q11 in familial congenital heart disease

7 January 2021

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0002-9297%2807%2964250-5

10.1016/S0002-9297(07)64250-5

7 January 2021

Identifiers

DOI

1 reference

14 November 2017

1 reference

14 November 2017

PubMed publication ID

9199579

1 reference