SOX10 mutations in patients with Waardenburg-Hirschsprung disease (Q28261561)

I Ceccherini

13

0 references

Michael Wegner

M Wegner

17

0 references

Stanislas Lyonnet

S Lyonnet

12

0 references

Gert Matthijs

G Matthijs

10

0 references

author name string

N Bondurand

2

0 references

K Kuhlbrodt

3

0 references

D E Goerich

4

0 references

M O Préhu

5

0 references

A Puliti

6

0 references

B Herbarth

7

0 references

I Hermans-Borgmeyer

8

0 references

E Legius

9

0 references

J Amiel

11

0 references

G Romeo

14

0 references

J C Smith

15

0 references

A P Read

16

0 references

M Goossens

https://scigraph.springernature.com/pub.10.1038/ng0298-171

18

0 references

language of work or name

English

0 references

publication date

February 1998

0 references

published in

Nature Genetics

0 references

volume

18

0 references

issue

2

0 references

page(s)

171-3

0 references

exact match

0 references

cites work

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

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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

21 April 2017

1 reference

Solution structure of the sequence-specific HMG box of the lymphocyte transcriptional activator Sox-4

21 April 2017

1 reference

Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 April 2017

1 reference

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

21 April 2017

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

Human homology and candidate genes for the Dominant megacolon locus, a mouse model of Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

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%2FNG0298-171

7 January 2021

The association of Waardenburg syndrome and Hirschsprung megacolon

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Waardenburg and Hirschsprung syndromes

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

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%2FNG0298-171

7 January 2021

Sox10, a novel transcriptional modulator in glial cells

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Structure of the HMG box motif in the B-domain of HMG1

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Phenotypic diversity, allelic series and modifier genes

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Quantitative trait loci that modify the severity of spotting in piebald mice.

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Abnormal Microenvironmental Signals Underlie Intestinal Aganglionosis inDominant megacolonMutant Mice

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Neuronal defects in genotyped dominant megacolon (Dom) mouse embryos, a model for Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1038%2FNG0298-171

7 January 2021

Identifiers

DOI

10.1038/NG0298-171

1 reference

Consolidated OpenCitations Corpus – April 2017

951986

951986

1 reference

Consolidated OpenCitations Corpus – April 2017

Consolidated OpenCitations Corpus – April 2017

1 reference