(Q57921547)

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Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencing (English)

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

hypertrophic pyloric stenosis

1 reference

based on heuristic

inferred from title

1 reference

based on heuristic

inferred from title

2

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

author name string

Christina Georgoula

3

1 reference

Europe PubMed Central

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6 February 2020

Ashley Reece

4

1 reference

Europe PubMed Central

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6 February 2020

Kate V Everett

1

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

R Mark Gardiner

5

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Europe PubMed Central

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6 February 2020

Eddie M K Chung

6

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Europe PubMed Central

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6 February 2020

publication date

1 December 2009

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

126

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6 February 2020

6

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Europe PubMed Central

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6 February 2020

819-831

1 reference

Europe PubMed Central

PubMed publication ID

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6 February 2020

https://scigraph.springernature.com/pub.10.1007/s00439-009-0735-5

0 references

TRPC5 as a candidate for the nonselective cation channel activated by muscarinic stimulation in murine stomach

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0735-5

21 January 2018

The genetics of infantile hypertrophic pyloric stenosis. A reanalysis

1 reference

https://api.crossref.org/works/10.1007%2FS00439-009-0735-5

21 January 2018

de Lange syndrome: a clinical review of 310 individuals

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

mRNA distribution analysis of human TRPC family in CNS and peripheral tissues.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Smooth muscle cell hypertrophy versus hyperplasia in infantile hypertrophic pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional splicing assay shows a pathogenic intronic mutation in neurofibromatosis type 1 (NF1) due to intronic sequence exonization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Enhanced expression of transient receptor potential channels in idiopathic pulmonary arterial hypertension

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Efficiency and power in genetic association studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A NEWLY RECOGNIZED SYNDROME OF MULTIPLE CONGENITAL ANOMALIES.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Correcting for a potential bias in the pedigree disequilibrium test

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The allelic architecture of human disease genes: common disease-common variant... or not?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genome-wide association study identifies IL23R as an inflammatory bowel disease gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Computer-simulation methods in human linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expression of trpC1 and trpC6 orthologs in zebrafish

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The transient receptor potential superfamily of ion channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two brothers with an unbalanced 8;17 translocation and infantile pyloric stenosis.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Probable autosomal dominant infantile pyloric stenosis in a large kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16p12-p13 and evidence for genetic heterogeneity

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular cytogenetic characterisation of partial trisomy 9q in a case with pyloric stenosis and a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Association analysis of Rgs7 variants with panic disorder.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic variation in immune signaling genes differentially expressed in asthmatic lung tissues.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Are rare variants responsible for susceptibility to complex diseases?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cation channels of the transient receptor potential superfamily: their role in physiological and pathophysiological processes of smooth muscle cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-nucleotide promoter polymorphism alters transcription of neuronal nitric oxide synthase exon 1c in infantile hypertrophic pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Canonical transient receptor potential channels promote cardiomyocyte hypertrophy through activation of calcineurin signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypertrophic pyloric stenosis and pulmonary hypertension in a neonate. A common mechanism?

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Haploview: analysis and visualization of LD and haplotype maps

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two-generation pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The inheritance of congenital pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Merlin--rapid analysis of dense genetic maps using sparse gene flow trees

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The epidemiology of infantile hypertrophic pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A test for linkage and association in general pedigrees: the pedigree disequilibrium test

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common intronic variant of CXCR3 is functionally associated with gene expression levels and the polymorphic immune cell responses to stimuli

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The TRP superfamily of cation channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypertrophic pyloric stenosis--unusual familial incidence

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic evidence for the neuronal nitric oxide synthase gene (NOS1) as a susceptibility locus for infantile pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distribution of recombination crossovers and the origin of haplotype blocks: the interplay of population history, recombination, and mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

TRPC1 forms the stretch-activated cation channel in vertebrate cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The APL test: extension to general nuclear families and haplotypes and examination of its robustness

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Infantile hypertrophic pyloric stenosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

X-APL: an improved family-based test of association in the presence of linkage for the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

FASTSNP: an always up-to-date and extendable service for SNP function analysis and prioritization.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of novel SNPs and mutations in human and mouse genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A common mechanism underlies stretch activation and receptor activation of TRPC6 channels

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accounting for Linkage in Family-Based Tests of Association with Missing Parental Genotypes

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Linkage of monogenic infantile hypertrophic pyloric stenosis to chromosome 16q24.

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The continuing enigma of pyloric stenosis of infancy: a review

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A class of tests for linkage using affected pedigree members

1 reference

https://pubmed.ncbi.nlm.nih.gov/19701773

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00439-009-0735-5

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19701773%20AND%20SRC:MED&resulttype=core&format=json

6 February 2020

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