(Q60035815)

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A common haplotype at the 5′ end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15643606%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression (English)

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15643606%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Marcella Devoto

6

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15643606%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

Isabella Ceccherini

7

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7 January 2020

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Paola Griseri

1

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7 January 2020

Tiziana Bachetti

2

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7 January 2020

Francesca Puppo

3

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7 January 2020

Francesca Lantieri

4

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7 January 2020

Roberto Ravazzolo

5

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7 January 2020

publication date

1 February 2005

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7 January 2020

1 reference

Europe PubMed Central

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7 January 2020

25

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7 January 2020

2

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7 January 2020

189-195

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7 January 2020

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

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/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Quantification of mRNA using real-time reverse transcription PCR (RT-PCR): trends and problems.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional haplotypes of the RET proto-oncogene promoter are associated with Hirschsprung disease (HSCR).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Segregation at three loci explains familial and population risk in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

An overview of real-time quantitative PCR: applications to quantify cytokine gene expression

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Functional analysis of human promoter polymorphisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

The RET receptor: function in development and dysfunction in congenital malformation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Incidence of RET mutations in patients with Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of RET mutations in long- and short-segment Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20135

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20135

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15643606%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15643606%20AND%20SRC:MED&resulttype=core&format=json

7 January 2020

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