(Q43222309)

16 November 2017

title

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease (English)

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16 November 2017

author name string

Avencia Sánchez-Mejías

1

1 reference

16 November 2017

Raquel Maria Fernández

2

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16 November 2017

Manuel López-Alonso

3

1 reference

16 November 2017

Guillermo Antiñolo

4

1 reference

16 November 2017

Salud Borrego

5

1 reference

16 November 2017

language of work or name

English

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publication date

1 January 2010

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16 November 2017

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16 November 2017

volume

12

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16 November 2017

issue

1

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16 November 2017

page(s)

39-43

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https://scigraph.springernature.com/pub.10.1097/gim.0b013e3181c371b0

16 November 2017

exact match

0 references

cites work

Hirschsprung disease, associated syndromes and genetics: a review

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Japanese patients with sporadic Hirschsprung: mutation analysis of the receptor tyrosine kinase proto-oncogene, endothelin-B receptor, endothelin-3, glial cell line-derived neurotrophic factor and neurturin genes: a comparison with similar studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Novel endothelin B receptor transcripts with the potential of generating a new receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Reduced endothelin-3 expression in sporadic Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1097%2FGIM.0B013E3181C371B0

10.1097/GIM.0B013E3181C371B0

21 January 2018

Identifiers

DOI

1 reference

Dimensions Publication ID

16 November 2017

1022083701

0 references

1 reference