(Q33853719)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Fine mapping of the 9q31 Hirschsprung's disease locus (English)

1 reference

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29 January 2020

main subject

Hirschsprung's disease

1 reference

1

1 reference

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29 January 2020

Stacey S. Cherny

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Yunia Sribudiani

2

1 reference

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29 January 2020

Benjamin Hon Kei Yip

8

1 reference

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29 January 2020

Paul Kwong Hang Tam

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

Robert Hofstra

15

1 reference

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29 January 2020

author name string

X P Miao

3

1 reference

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29 January 2020

A R de Vries

4

1 reference

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29 January 2020

G Burzynski

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

M T So

6

1 reference

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29 January 2020

Y Y Leon

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

J Osinga

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

K J W S Hui

10

1 reference

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29 January 2020

J B G M Verheij

11

1 reference

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29 January 2020

P C Sham

14

1 reference

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29 January 2020

M M Garcia-Barceló

16

1 reference

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29 January 2020

publication date

2 April 2010

1 reference

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29 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

volume

127

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

issue

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

page(s)

675-683

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

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

29 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Whole-genome association study of bipolar disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Principal components analysis corrects for stratification in genome-wide association studies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Expression profiling the developing mammalian enteric nervous system identifies marker and candidate Hirschsprung disease genes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Identifying candidate Hirschsprung disease-associated RET variants

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Decreased density of ganglia and neurons in the myenteric plexus of familial dysautonomia patients

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Chinese patients with sporadic Hirschsprung's disease are predominantly represented by a single RET haplotype

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Phenotype variation in two-locus mouse models of Hirschsprung disease: tissue-specific interaction between Ret and Ednrb

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Association of Lbc Rho guanine nucleotide exchange factor with alpha-catenin-related protein, alpha-catulin/CTNNAL1, supports serum response factor activation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

5 July 2018

Familial dysautonomia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Hirschsprung disease, associated syndromes, and genetics: a review

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Prediction of deleterious human alleles

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Familial dysautonomia is caused by mutations of the IKAP gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

A loss-of-function mutation in the endothelin-converting enzyme 1 (ECE-1) associated with Hirschsprung disease, cardiac defects, and autonomic dysfunction

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Germline mutations in glial cell line-derived neurotrophic factor (GDNF) and RET in a Hirschsprung disease patient

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Mutations of the RET proto-oncogene in Hirschsprung's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Point mutations affecting the tyrosine kinase domain of the RET proto-oncogene in Hirschsprung's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

A genetic study of Hirschsprung disease

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Ventromedial hypothalamic lesions change the expression of neuron-related genes and immune-related genes in rat liver

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

A novel susceptibility locus for Hirschsprung's disease maps to 4q31.3-q32.3.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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.

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

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

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Genome-wide association study and mouse model identify interaction between RET and EDNRB pathways in Hirschsprung disease

29 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2871095

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease

29 October 2018

1 reference

12 December 2020

Within-gene interaction between c.135 G/A genotypes and RET proto-oncogene germline mutations in HSCR families

1 reference

12 December 2020

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease

1 reference

12 December 2020

Congenital megacolon associated with familial dysautonomia

1 reference

12 December 2020

10.1007/S00439-010-0813-8

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

29 January 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20361209%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

PubMed publication ID

20361209

1 reference