(Q24311237)

multicellular organism development

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Arnold Munnich

9

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Robert Hofstra

6

object named as

R M Hofstra

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Stanislas Lyonnet

object named as

S Lyonnet

10

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Charis Eng

object named as

C Eng

5

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author name string

P Edery

1

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T Attié

2

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J Amiel

3

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A Pelet

4

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H Martelli

7

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C Bidaud

https://scigraph.springernature.com/pub.10.1038/ng0496-442

8

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language of work or name

English

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publication date

April 1996

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published in

Nature Genetics

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volume

12

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page(s)

442-4

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issue

4

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exact match

0 references

cites work

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

1 reference

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

20 April 2017

1 reference

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

20 April 2017

1 reference

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

20 April 2017

1 reference

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

20 April 2017

1 reference

Elevated blood pressure and craniofacial abnormalities in mice deficient in endothelin-1

20 April 2017

1 reference

The association of Waardenburg syndrome and Hirschsprung megacolon

20 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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%2FNG0496-442

7 January 2021

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Waardenburg and Hirschsprung syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Waardenburg's syndrome with Hirschsprung's disease: a neural crest defect

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Chromosome 13q deletion with Waardenburg syndrome: further evidence for a gene involved in neural crest function on 13q.

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Molecular characterization of endothelin receptors

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

The endothelin system. A new target for therapeutic intervention

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Aortic arch malformations and ventricular septal defect in mice deficient in endothelin-1

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-442

7 January 2021