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English
Deconstructing DiGeorge syndrome
scientific article published on 01 March 2001
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
title
Deconstructing DiGeorge syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
main subject
DiGeorge syndrome
1 reference
based on heuristic
inferred from title
author name string
Schinke M
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
Izumo S
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
publication date
1 March 2001
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
volume
27
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
page(s)
238-240
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
cites work
DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mice lacking the homologue of the human 22q11.2 gene CRKL phenocopy neurocristopathies of DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiovascular malformations in DiGeorge syndrome (congenital absence of hypoplasia of the thymus)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
HIRA, a DiGeorge syndrome candidate gene, is required for cardiac outflow tract septation.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A molecular pathway revealing a genetic basis for human cardiac and craniofacial defects
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional haploinsufficiency of the human homeobox gene MSX2 causes defects in skull ossification
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiac septal and valvular dysmorphogenesis in mice heterozygous for mutations in the homeobox gene Nkx2-5
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pax9-deficient mice lack pharyngeal pouch derivatives and teeth and exhibit craniofacial and limb abnormalities.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Isolation and characterization of a gene from the DiGeorge chromosomal region homologous to the mouse Tbx1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of 150 kb in the minimal DiGeorge/velocardiofacial syndrome critical region in mouse.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2F85784
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/85784
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
PubMed publication ID
11242098
1 reference
stated in
Europe PubMed Central
PubMed publication ID
11242098
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11242098%20AND%20SRC:MED&resulttype=core&format=json
retrieved
5 November 2019
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