Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis (Q36956625)

17 August 2017

Common variants near MBNL1 and NKX2-5 are associated with infantile hypertrophic pyloric stenosis (English)

1 reference

17 August 2017

Mads Melbye

0 references

Mads Vilhelm Hollegaard

Mads V Hollegaard

0 references

Bjarke Feenstra

0 references

Frank Geller

0 references

Camilla Krogh

1 reference

17 August 2017

Sanne Gørtz

1 reference

17 August 2017

Heather A Boyd

1 reference

17 August 2017

Jeffrey C Murray

1 reference

17 August 2017

David M Hougaard

1 reference

17 August 2017

language of work or name

English

0 references

publication date

5 February 2012

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

1 reference

17 August 2017

334-337

1 reference

Infantile hypertrophic pyloric stenosis: epidemiology, genetics, and clinical update.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

A user's guide to the encyclopedia of DNA elements (ENCODE)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

A map of human genome variation from population-scale sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

NKX2-5: an update on this hypermutable homeodomain protein and its role in human congenital heart disease (CHD)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

LocusZoom: regional visualization of genome-wide association scan results

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Global regulation of alternative splicing during myogenic differentiation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

METAL: fast and efficient meta-analysis of genomewide association scans

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Genome-wide association study of PR interval

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

New insights into the pathogenesis of infantile pyloric stenosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Genomic views of distant-acting enhancers

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Six2 activity is required for the formation of the mammalian pyloric sphincter

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

A postnatal switch of CELF and MBNL proteins reprograms alternative splicing in the developing heart

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

PLINK: a tool set for whole-genome association and population-based linkage analyses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

The continuing enigma of pyloric stenosis of infancy: a review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Muscleblind proteins regulate alternative splicing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Quantifying heterogeneity in a meta-analysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Genomic control for association studies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Roles of BMP signaling and Nkx2.5 in patterning at the chick midgut-foregut boundary

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Infantile hypertrophic pyloric stenosis after pertussis prophylaxis with erythromcyin: a case review and cohort study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Breast feeding and hypertrophic pyloric stenosis: population based case-control study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

The genetics of infantile hypertrophic pyloric stenosis. A reanalysis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

The inheritance of pyloric stenosis explained by a multifactorial threshold model with sex dimorphism for liability.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Vertebrate tinman homologues XNkx2-3 and XNkx2-5 are required for heart formation in a functionally redundant manner.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Cardiac and extracardiac expression of Csx/Nkx2.5 homeodomain protein.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3693399

Familial Aggregation and Heritability of Pyloric Stenosis

4 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1067

Evaluating the heritability explained by known susceptibility variants: a survey of ten complex diseases

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1067

BMP signalling specifies the pyloric sphincter

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.1067

Infantile hypertrophic pyloric stenosis: genes and environment

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22306654

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The epidemiology of infantile hypertrophic pyloric stenosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22306654

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.1067

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

22306654

1 reference