(Q24540201)

6 July 2017

title

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain (English)

1 reference

6 July 2017

0 references

1 reference

Munnich A

Munnich

1 reference

6 July 2017

Touraine RL

R L

Touraine

1 reference

6 July 2017

Attié-Bitach T

Attié-Bitach

1 reference

6 July 2017

Manceau E

Manceau

1 reference

6 July 2017

Korsch E

Korsch

1 reference

6 July 2017

Sarda P

Sarda

1 reference

6 July 2017

Pingault V

Pingault

1 reference

6 July 2017

Encha-Razavi F

Encha-Razavi

1 reference

6 July 2017

Pelet A

Pelet

1 reference

6 July 2017

Augé J

Augé

1 reference

6 July 2017

Nivelon-Chevallier A

Nivelon-Chevallier

1 reference

6 July 2017

Holschneider AM

A M

Holschneider

1 reference

6 July 2017

Munnes M

Munnes

1 reference

6 July 2017

Doerfler W

Doerfler

1 reference

6 July 2017

Goossens M

Goossens

1 reference

6 July 2017

Vekemans M

Vekemans

1 reference

6 July 2017

Lyonnet S

Lyonnet

1 reference

6 July 2017

language of work or name

English

0 references

publication date

4 April 2000

1 reference

American Journal of Human Genetics

6 July 2017

published in

1 reference

6 July 2017

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6 July 2017

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6 July 2017

page(s)

1496-1503

1 reference

Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients

6 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

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

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Sox10, a novel transcriptional modulator in glial cells

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

24 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Truncation mutations in the transactivation region of PAX6 result in dominant-negative mutants

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Deletion of the carboxyl-terminal transactivation domain of MGF-Stat5 results in sustained DNA binding and a dominant negative phenotype.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

A familial neuronal disease presenting as intestinal pseudoobstruction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Sox genes find their feet

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Congenital Deafness and Hirschsprung’s Disease

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Waardenburg syndrome: a variant with neurological involvement.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Mental retardation and EEG abnormalities in Waardenburg's syndrome: two case reports (EEG anomalies in Waardenburg's syndrome).

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Hirschsprung's disease and Waardenburg's syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Conditional ablation of cerebellar astrocytes in postnatal transgenic mice

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

The association of Waardenburg syndrome and Hirschsprung megacolon

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1378013

Expression of the SOX10 gene during human development

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10762540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/10762540

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302895

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1086/302895

1 reference

release_axa3b5p6azfgnjtgnh7jvdqlfm

6 July 2017

Fatcat ID

0 references

PMC publication ID

1378013

1 reference

6 July 2017

1 reference