(Q33676431)

28 July 2017

title

Exclusion of RET and Pax 3 loci in Waardenburg-Hirschsprung disease (English)

1 reference

28 July 2017

6

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Stanislas Lyonnet

object named as

S Lyonnet

7

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author name string

T Attié

1

1 reference

28 July 2017

M Till

2

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28 July 2017

A Pelet

3

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28 July 2017

P Edery

4

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28 July 2017

J P Bonnet

5

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28 July 2017

language of work or name

English

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publication date

1 April 1995

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Journal of Medical Genetics

28 July 2017

published in

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28 July 2017

volume

32

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28 July 2017

issue

4

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28 July 2017

page(s)

312-313

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

28 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=1050384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Waardenburg's syndrome: a comparison of biometric indices used to diagnose lateral displacement of the inner canthi

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

21 June 2018

Aganglionosis in rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Hirschsprung's disease, aganglionic or hypoganglionic megacolon. Animal model: aganglionic megacolon in piebald and spotted mutant mouse strains

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Heterogeneity in Waardenburg syndrome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

The association of Waardenburg syndrome and Hirschsprung megacolon

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1050384

Association of Megacolon with Two Recessive Spotting Genes in the Mouse

30 October 2018

1 reference

12 December 2020

Hirschsprung's disease: an appraisal of histochemically demonstrated acetylcholinesterase activity in suction rectal biopsy specimens as an aid to diagnosis

1 reference

12 December 2020

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

1 reference

12 December 2020

Waardenburg and Hirschsprung syndromes

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1136/JMG.32.4.312

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28 July 2017

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28 July 2017

1 reference