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Mutations of the RET-GDNF signaling pathway in Ondine's curse
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
title
Mutations of the RET-GDNF signaling pathway in Ondine's curse
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
author
Jeanne Amiel
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Anastella Pelet
series ordinal
4
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Stanislas Lyonnet
series ordinal
9
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
author name string
R Salomon
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
T Attié
series ordinal
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
H Trang
series ordinal
5
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
M Mokhtari
series ordinal
6
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
C Gaultier
series ordinal
7
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
A Munnich
series ordinal
8
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
language of work or name
English
0 references
publication date
1 March 1998
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
published in
American Journal of Human Genetics
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
volume
62
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
page(s)
715-717
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
cites work
Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase RET
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hirschsprung's disease associated with Ondine's curse: a special subgroup?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
RET proto-oncogene is important for the development of respiratory CO2 sensitivity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
GDNF signalling through the Ret receptor tyrosine kinase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1086%2F301759
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1086/301759
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
Fatcat ID
release_ck5zdnorc5cfbgle4rd2ttgdty
0 references
PMC publication ID
1376953
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
PubMed publication ID
9497256
1 reference
stated in
Europe PubMed Central
PMC publication ID
1376953
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9497256%20AND%20SRC:MED&resulttype=core&format=json
retrieved
10 November 2019
ResearchGate publication ID
13735007
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