(Q28278792)

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

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scholarly article

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

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1 reference

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inferred from title

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object named as

R M Hofstra

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author name string

J Osinga

2

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G Tan-Sindhunata

3

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Y Wu

4

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E J Kamsteeg

5

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R P Stulp

6

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C van Ravenswaaij-Arts

7

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D Majoor-Krakauer

8

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M Angrist

9

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A Chakravarti

10

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C Meijers

11

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C H Buys

12

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publication date

April 1996

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Nature Genetics

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12

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4

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445-7

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https://scigraph.springernature.com/pub.10.1038/ng0496-445

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

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https://api.crossref.org/works/10.1038/NG0496-445

21 April 2017

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

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https://api.crossref.org/works/10.1038/NG0496-445

21 April 2017

Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons

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https://api.crossref.org/works/10.1038/NG0496-445

21 April 2017

ECE-1: a membrane-bound metalloprotease that catalyzes the proteolytic activation of big endothelin-1

1 reference

https://api.crossref.org/works/10.1038/NG0496-445

21 April 2017

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%2FNG0496-445

21 January 2018

Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice

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https://api.crossref.org/works/10.1038%2FNG0496-445

21 January 2018

The association of Waardenburg syndrome and Hirschsprung megacolon

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https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

The human endothelin family: three structurally and pharmacologically distinct isopeptides predicted by three separate genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

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

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of megacolon with a new dominant spotting gene (Dom) in the mouse

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-445

7 January 2021

based on heuristic

inferred from DOI database lookup

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