(Q36618303)

English

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease

scientific article published on 28 December 2012

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Four new loci associations discovered by pathway-based and network analyses of the genome-wide variability profile of Hirschsprung's disease (English)

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

genome-wide association study

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Joaquín Dopazo

12

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Luz Garcia-Alonso

object named as

Luz García-Alonso

6

0 references

object named as

Ignacio Medina

4

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object named as

David Montaner

10

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author name string

Raquel Ma Fernández

1

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Marta Bleda

2

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Rocío Núñez-Torres

3

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Berta Luzón-Toro

5

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ana Torroglosa

7

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Martina Marbà

8

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Ma Valle Enguix-Riego

9

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Guillermo Antiñolo

11

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Europe PubMed Central

PMC publication ID

15 August 2017

Salud Borrego

13

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Europe PubMed Central

PMC publication ID

15 August 2017

publication date

28 December 2012

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Europe PubMed Central

PMC publication ID

15 August 2017

Orphanet Journal of Rare Diseases

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Europe PubMed Central

PMC publication ID

15 August 2017

7

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Europe PubMed Central

PMC publication ID

15 August 2017

103

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-103

0 references

Comprehensive analysis of NRG1 common and rare variants in Hirschsprung patients

1 reference

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1 reference

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Expression of PROKR1 and PROKR2 in human enteric neural precursor cells and identification of sequence variants suggest a role in HSCR.

1 reference

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Interactome networks and human disease

1 reference

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1 reference

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1 reference

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Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

1 reference

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1 reference

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1 reference

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Analysing biological pathways in genome-wide association studies

1 reference

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Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

1 reference

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Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease

1 reference

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Pathways-based analyses of whole-genome association study data in bipolar disorder reveal genes mediating ion channel activity and synaptic neurotransmission

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Pathway analysis of seven common diseases assessed by genome-wide association

1 reference

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Protein networks in disease

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Pathway-based approaches for analysis of genomewide association studies

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Hirschsprung disease, associated syndromes and genetics: a review

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Deleted in liver cancer-1 (DLC-1): a tumor suppressor not just for liver

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Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia

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PupaSuite: finding functional single nucleotide polymorphisms for large-scale genotyping purposes

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

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1 reference

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1 reference

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Association of genetic polymorphisms in the RET-protooncogene and NRG1 with Hirschsprung disease in Thai patients.

1 reference

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1 reference

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1 reference

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1 reference

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1 reference

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12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A flexible two-stage procedure for identifying gene sets that are differentially expressed

1 reference

https://pubmed.ncbi.nlm.nih.gov/23270508

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-7-103

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

15 August 2017

ResearchGate publication ID

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