Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome (Q59205566)

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English	Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome	article

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12628594%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome (English)

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12628594%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

Hirschsprung's disease

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3

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1 November 2019

4

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1 November 2019

author name string

Zaahl MG

1

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1 November 2019

du Plessis L

2

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1 November 2019

Moore SW

5

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1 November 2019

publication date

1 February 2003

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1 November 2019

Molecular and Cellular Probes

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1 November 2019

17

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1 November 2019

1

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1 November 2019

49-54

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1 November 2019

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

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7 January 2021

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Familial Aspects of Hirschsprung's Disease

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Hirschsprung's disease

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Hirschsprung's disease: clinical and experimental observations

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The influence of trisomy 21 on outcome in children with Hirschsprung's disease

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7 January 2021

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Hirschsprung's disease: genetic and functional associations of Down's and Waardenburg syndromes

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7 January 2021

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

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

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Close linkage with the RET protooncogene and boundaries of deletion mutations in autosomal dominant Hirschsprung disease

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7 January 2021

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

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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

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Separation of retinoblastoma and esterase D loci in a patient with sporadic retinoblastoma and del(13)(q14.1q22.3)

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Association of 13q deletion and Hirschsprung's disease.

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A case of Hirschsprung disease with a chromosome 13 microdeletion, del(13)(q32.3q33.2): potential mapping of one disease locus

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Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

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

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

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Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color

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The temporal requirement for endothelin receptor-B signalling during neural crest development

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Novel endothelin B receptor transcripts with the potential of generating a new receptor

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7 January 2021

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Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

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7 January 2021

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Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

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7 January 2021

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Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

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Novel RET mutations in Hirschsprung's disease patients from the diverse South African population.

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Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

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Identifiers

10.1016/S0890-8508(03)00003-3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12628594%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12628594%20AND%20SRC:MED&resulttype=core&format=json

1 November 2019

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