(Q47618208)

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Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

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scholarly article

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2. (English)

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

11

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Isabella Ceccherini

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Isabella Ceccherini

4

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Grzegorz M Burzynski

1

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Ilja M Nolte

2

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Jan Osinga

3

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Bas Twigt

5

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Saskia Maas

6

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Alice Brooks

7

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Joke Verheij

8

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Ivan Plaza Menacho

9

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

Charles H C M Buys

10

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

publication date

1 August 2004

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

European Journal of Human Genetics

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Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

12

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

8

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

604-612

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

https://scigraph.springernature.com/pub.10.1038/sj.ejhg.5201199

0 references

Hirschsprung disease, associated syndromes, and genetics: a review

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Loss-of-function mutations in SIP1 Smad interacting protein 1 result in a syndromic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

A haplotype-based 'haplotype relative risk' approach to detecting allelic associations.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

On estimating the relation between blood group and disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

21 January 2018

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

7 January 2021

based on heuristic

inferred from DOI database lookup

Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

7 January 2021

based on heuristic

inferred from DOI database lookup

Three dinucleotide repeat polymorphisms closely linked to the RET protooncogene D10S1098, D10S1099 and D10S1100

1 reference

https://api.crossref.org/works/10.1038%2FSJ.EJHG.5201199

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1038/SJ.EJHG.5201199

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

release_6zcdzj4idvf55mtgoef5ptaquu

1 reference

https://api.fatcat.wiki/v0/release/6zcdzj4idvf55mtgoef5ptaquu

24 November 2022

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PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

4 February 2018

http://europepmc.org/abstract/MED/15138456

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