(Q35595483)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

title

Association study of PHOX2B as a candidate gene for Hirschsprung's disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Vincent C.H. Lui

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Paul Kwong Hang Tam

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

author name string

M Garcia-Barceló

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

B L S Chen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

J Ott

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

language of work or name

English

0 references

publication date

1 April 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

volume

52

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

issue

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

page(s)

563-567

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

1 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Characterization of single-nucleotide polymorphisms in coding regions of human genes

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Mutations in Hirschsprung disease: when does a mutation contribute to the phenotype

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Identification and cloning of neuroblastoma-specific and nerve tissue-specific genes through compiled expression profiles

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Endothelin receptor-mediated signaling in hirschsprung disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

A genetic study of Hirschsprung disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Segregation at three loci explains familial and population risk in Hirschsprung disease

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Genomic structure and functional characterization of NBPhox (PMX2B), a homeodomain protein specific to catecholaminergic cells that is involved in second messenger-mediated transcriptional activation

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1773584

Incidence of RET mutations in patients with Hirschsprung's disease

26 September 2018

1 reference

12 December 2020

The Phox2b transcription factor coordinately regulates neuronal cell cycle exit and identity

1 reference

12 December 2020

Islands of linkage disequilibrium

1 reference

12 December 2020

Tests of the helix dipole model for stabilization of α-helices

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.52.4.563

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

release_i44vvulzcvbarjdf37bcntmbpa

1 November 2019

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/i44vvulzcvbarjdf37bcntmbpa

24 November 2022

mapped directly with Wikidata item

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12631670%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

12631670

1 reference