(Q59205566)

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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

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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

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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based on heuristic

inferred from title

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

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.

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial Aspects of Hirschsprung's Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Hirschsprung's disease: clinical and experimental observations

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of 13q deletion and Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Founder mutations in the LDL receptor gene contribute significantly to the familial hypercholesterolemia phenotype in the indigenous South African population of mixed ancestry

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

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A general method for isolation of high molecular weight DNA from eukaryotes

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

A simple salting out procedure for extracting DNA from human nucleated cells

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Poorly differentiated adenocarcinoma with lymphoid stroma (lymphoepithelioma-like carcinomas) of the stomach. Report of three cases with Epstein-Barr virus genome demonstrated by the polymerase chain reaction

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Nonradioactive multiplex PCR screening strategy for the simultaneous detection of multiple low-density lipoprotein receptor gene mutations

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Sequence diversity in 36 candidate genes for cardiovascular disorders

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization of single-nucleotide polymorphisms in coding regions of human genes

1 reference

https://api.crossref.org/works/10.1016%2FS0890-8508%2803%2900003-3

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

The frequent 5,10-methylenetetrahydrofolate reductase C677T polymorphism is associated with a common haplotype in whites, Japanese, and Africans

1 reference

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Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1.

1 reference

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Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation

1 reference

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Identifiers

10.1016/S0890-8508(03)00003-3

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

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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