(Q35882793)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

title

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

author name string

Kurahashi H

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Nakayama T

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Osugi Y

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Tsuda E

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Masuno M

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Imaizumi K

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Kamiya T

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Sano T

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Okada S

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

Nishisho I

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

language of work or name

English

0 references

publication date

1 June 1996

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

16 October 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

volume

58

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

issue

6

1 reference

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16 October 2019

page(s)

1377-1381

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

DiGeorge syndrome: part of CATCH 22.

16 October 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

Isolation and mapping of cosmid markers on human chromosome 22, including one within the submicroscopically deleted region of DiGeorge syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

A human homolog of the S.cerevisiae HIR1 and HIR2 transcriptional repressors cloned from the DiGeorge syndrome critical region

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

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

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

Isolation and characterization of a novel gene deleted in DiGeorge syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

The association of the DiGeorge anomalad with partial monosomy of chromosome 22.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

Structural aberrations of the long arm of chromosome no. 22. Report fo a family with translocation t(11;22) (q25;q11).

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

Isolation of a gene expressed during early embryogenesis from the region of 22q11 commonly deleted in DiGeorge syndrome

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

Submicroscopic deletions at 22q11.2: Variability of the clinical picture and delineation of a commonly deleted region

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1915078

DiGeorge syndrome and 22q11 rearrangements

14 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8651317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

High resolution ordering of DNA markers by multi-color fluorescent in situ hybridization of prophase chromosomes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/8651317

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8651317%20AND%20SRC:MED&resulttype=core&format=json

16 October 2019

PubMed publication ID

8651317

1 reference