(Q30899004)

20 August 2017

A novel study of copy number variations in Hirschsprung disease using the multiple ligation-dependent probe amplification (MLPA) technique (English)

1 reference

20 August 2017

Rocío Núñez-Torres

1

1 reference

20 August 2017

Raquel M Fernández

2

1 reference

20 August 2017

Manuel López-Alonso

3

1 reference

20 August 2017

Guillermo Antiñolo

4

1 reference

20 August 2017

Salud Borrego

5

1 reference

20 August 2017

19 November 2009

1 reference

20 August 2017

1 reference

20 August 2017

10

1 reference

20 August 2017

119

1 reference

Hirschsprung disease, associated syndromes and genetics: a review

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784767

A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784767

MLPA and MAPH: new techniques for detection of gene deletions

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784767

A novel point variant in NTRK3, R645C, suggests a role of this gene in the pathogenesis of Hirschsprung disease

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-119

Ancestral RET haplotype associated with Hirschsprung's disease shows linkage disequilibrium breakpoint at -1249.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-119

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1471-2350-10-119

New roles of EDNRB and EDN3 in the pathogenesis of Hirschsprung disease

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784767

Contribution of RET, NTRK3 and EDN3 to the expression of Hirschsprung disease in a multiplex family.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2784767

Prevalence and parental origin of de novo RET mutations in Hirschsprung's disease

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19925665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

NTF-3, a gene involved in the enteric nervous system development, as a candidate gene for Hirschsprung disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19925665

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1471-2350-10-119

1 reference

Dimensions Publication ID

20 August 2017

0 references

1 reference

20 August 2017

PubMed publication ID

19925665

1 reference