(Q35363393)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Analysis of the RET, GDNF, EDN3, and EDNRB genes in patients with intestinal neuronal dysplasia and Hirschsprung disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

inflammatory bowel diseases

6 November 2019

main subject

0 references

Hirschsprung's disease

0 references

0 references

0 references

0 references

0 references

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Charis Eng

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

Andreas von Deimling

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

author name string

R Gath

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

A Goessling

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

K M Keller

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Koletzko

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

W Coerdt

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H Müntefering

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

S Wirth

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

L Mulligan

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 May 2001

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

48

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

671-675

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

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

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Specific polymorphisms in the RET proto-oncogene are over-represented in patients with Hirschsprung disease and may represent loci modifying phenotypic expression

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Rectal biopsy for diagnosis of intestinal neuronal dysplasia in children: a prospective multicentre study on interobserver variation and clinical outcome

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Investigation of germline GFR alpha-1 mutations in Hirschsprung disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Genetic aspects of Hirschsprung's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Endothelin-3 gene mutations in isolated and syndromic Hirschsprung disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Mutation analysis of glial cell line-derived neurotrophic factor (GDNF), a ligand for the RET/GDNF receptor alpha complex, in sporadic phaeochromocytomas.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Germline mutations of the RET ligand GDNF are not sufficient to cause Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Exclusion of linkage between RET and neuronal intestinal dysplasia type B

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Endothelin-B receptor mutations in patients with isolated Hirschsprung disease from a non-inbred population

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Endothelin receptor-mediated signaling in hirschsprung disease.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

GDNF-induced activation of the ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Characterization of a multicomponent receptor for GDNF.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

GDNF signalling through the Ret receptor tyrosine kinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Functional receptor for GDNF encoded by the c-ret proto-oncogene

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

The human endothelin-B receptor gene. Structural organization and chromosomal assignment

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Structural analysis of the human ret proto-oncogene using exon trapping.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Hirschsprung's disease and allied disorders--a review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Neuronal intestinal dysplasia. Critical 10-years' analysis of clinical and biopsy diagnosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

An Epidemiological Study of Hirschsprung's Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Casuistic of colon disorder with symptoms of Hirschsprung's disease (author's transl)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Concurrent de novo interstitial deletion of band 2p22 and reciprocal translocation (3;7)(p21;q22)

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

A genetic study of Hirschsprung disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Hirschsprung's disease and mongolism

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Identification and analysis of the ret proto-oncogene promoter region in neuroblastoma cell lines and medullary thyroid carcinomas from MEN2A patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Adult-Onset Hirschsprung's Disease

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

DNA polymorphisms and conditions for SSCP analysis of the 20 exons of the ret proto-oncogene.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

The neuropathological diagnosis of neuronal intestinal dysplasia (NID B).

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

A rapid and non-radioactive PCR based assay for the detection of allelic loss in human gliomas.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

The association of Waardenburg syndrome and Hirschsprung megacolon

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Phenotypic diversity, allelic series and modifier genes

15 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1728268

Incidence of RET mutations in patients with Hirschsprung's disease

15 November 2018

1 reference

12 December 2020

"Partial trisomy 22 and 11" due to a paternal 11;22 translocation associated with Hirschsprung disease

1 reference

12 December 2020

Waardenburg syndrome and Hirschsprung disease: evidence for pleiotropic effects of a single dominant gene

1 reference

12 December 2020

[Disorders of the innervation of the large intestine--classification and diagnosis. Results of a consensus conference of the Society of Gastroenteropathology 1 December 1990 in Frankfurt/Main]

1 reference

12 December 2020

Intestinal neuronal dysplasia: does it exist or has it been invented?

1 reference

12 December 2020

Is neuronal intestinal dysplasia (NID) a primary disease or a secondary phenomenon?

1 reference

12 December 2020

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

1 reference

12 December 2020

Immunohistochemical localization of RET protein in Hirschsprung's disease

1 reference

12 December 2020

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

12 December 2020

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease

1 reference

12 December 2020

Mutation analysis of the RET, the endothelin-B receptor, and the endothelin-3 genes in sporadic cases of Hirschsprung's disease

1 reference

12 December 2020

Low frequency of RET mutations in Hirschsprung disease in Sweden

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the Endothelin-3 (EDN-3) Gene in Isolated Hirschsprung's Disease

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.48.5.671

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11302967%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference