(Q28188758)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

title

Is there a role for the IHH gene in Hirschsprung's disease? (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

3

1 reference

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21 December 2019

Vincent C.H. Lui

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

Paul Kwong Hang Tam

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

author name string

M-M Garcia-Barceló

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

W-S Lee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

language of work or name

English

0 references

publication date

1 December 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

Neurogastroenterology and Motility

21 December 2019

published in

1 reference

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21 December 2019

volume

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

page(s)

663-668

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14651602%20AND%20SRC:MED&resulttype=core&format=json

Mutations of the RET proto-oncogene in Hirschsprung's disease

21 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

A direct requirement for Hedgehog signaling for normal specification of all ventral progenitor domains in the presumptive mammalian spinal cord

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Sonic hedgehog signaling is essential for hair development

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

A novel mutation in the IHH gene causes brachydactyly type A1: a 95-year-old mystery resolved

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

21 April 2017

1 reference

https://api.crossref.org/works/10.1046/J.1350-1925.2003.00447.X

Hirschsprung disease, associated syndromes, and genetics: a review

21 April 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Hedgehog signal transduction: from flies to vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Limbs are moving: where are they going?

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Branching morphogenesis of the lung: new molecular insights into an old problem

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Association study of PHOX2B as a candidate gene for Hirschsprung's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Human developmental disorders and the Sonic hedgehog pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

Multifactor dimensionality reduction software for detecting gene-gene and gene-environment interactions

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

New strategies for identifying gene-gene interactions in hypertension

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X

GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1350-1925.2003.00447.X