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

I Ceccherini

13

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Michael Wegner

M Wegner

17

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Stanislas Lyonnet

S Lyonnet

12

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Gert Matthijs

G Matthijs

10

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author name string

N Bondurand

2

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K Kuhlbrodt

3

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D E Goerich

4

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M O Préhu

5

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A Puliti

6

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B Herbarth

7

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I Hermans-Borgmeyer

8

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E Legius

9

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J Amiel

11

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G Romeo

14

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J C Smith

15

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A P Read

16

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M Goossens

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

18

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language of work or name

English

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publication date

February 1998

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published in

Nature Genetics

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volume

18

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issue

2

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page(s)

171-3

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cites work

1 reference

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

21 April 2017

1 reference

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

21 April 2017

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

21 April 2017

1 reference

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

21 April 2017

1 reference

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Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

21 April 2017

1 reference

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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

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

21 January 2018

1 reference

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21 January 2018

1 reference

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7 January 2021

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

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7 January 2021

The association of Waardenburg syndrome and Hirschsprung megacolon

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7 January 2021

Waardenburg and Hirschsprung syndromes

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7 January 2021

Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis

1 reference

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7 January 2021

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

1 reference

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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

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7 January 2021

Sox10, a novel transcriptional modulator in glial cells

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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7 January 2021

Human haploinsufficiency — one for sorrow, two for joy

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7 January 2021

Phenotypic diversity, allelic series and modifier genes

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7 January 2021

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

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7 January 2021

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

1 reference

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7 January 2021

Abnormal Microenvironmental Signals Underlie Intestinal Aganglionosis inDominant megacolonMutant Mice

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Identifiers

DOI

10.1038/NG0298-171

1 reference

Consolidated OpenCitations Corpus – April 2017

1 reference

Consolidated OpenCitations Corpus – April 2017

PubMed publication ID

9462749

1 reference

Consolidated OpenCitations Corpus – April 2017