(Q34401758)

1 August 2017

0 references

Identifying candidate Hirschsprung disease-associated RET variants (English)

1 reference

1 August 2017

12

Robert M W Hofstra

1 reference

1 August 2017

Grzegorz M Burzynski

1

1 reference

1 August 2017

Ilja M Nolte

2

1 reference

1 August 2017

Agnes Bronda

3

1 reference

1 August 2017

Krista K Bos

4

1 reference

1 August 2017

Jan Osinga

5

1 reference

1 August 2017

Ivan Plaza Menacho

6

1 reference

1 August 2017

Bas Twigt

7

1 reference

1 August 2017

Saskia Maas

8

1 reference

1 August 2017

Alice S Brooks

9

1 reference

1 August 2017

Joke B G M Verheij

10

1 reference

1 August 2017

Charles H C M Buys

11

1 reference

1 August 2017

language of work or name

English

0 references

publication date

9 March 2005

1 reference

American Journal of Human Genetics

1 August 2017

published in

1 reference

1 August 2017

volume

76

1 reference

1 August 2017

issue

5

1 reference

1 August 2017

page(s)

850-858

1 reference

TTF-1 and RET promoter SNPs: regulation of RET transcription in Hirschsprung's disease

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

The clinical role of the PEA3 transcription factor in ovarian and breast carcinoma in effusions

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

ETS transcription factors: possible targets for cancer therapy

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

Hirschsprung disease, associated syndromes, and genetics: a review

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

RET and GDNF gene scanning in Hirschsprung patients using two dual denaturing gel systems

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

The TDT and other family-based tests for linkage disequilibrium and association

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

A genetic study of Hirschsprung disease

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

A haplotype-based 'haplotype relative risk' approach to detecting allelic associations.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

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

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

27 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1199373

[Hirschsprung's congenital megacolon. The concept of physiopathology and therapy]

27 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15759212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Haplotype relative risks: an easy reliable way to construct a proper control sample for risk calculations

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15759212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

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

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15759212

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/429589

1 reference

1 August 2017

1 reference

1 August 2017

1 reference