(Q57338196)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

main subject

Hirschsprung's disease

1 reference

1 reference

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

author name string

Guido Fitze

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Jakob Cramer

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Mandy Schierz

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Matthias Schreiber

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Eberhard Kuhlisch

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Dietmar Roesner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

Hans K Schackert

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

language of work or name

English

0 references

publication date

1 April 2002

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

volume

359

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

issue

9313

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

page(s)

1200-1205

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

9 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Total colonic aganglionosis associated with interstitial deletion of the long arm of chromosome 10

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Mutations in the extracellular domain cause RET loss of function by a dominant negative mechanism

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Mutation of the RET ligand, neurturin, supports multigenic inheritance in Hirschsprung disease [published erratum appears in Hum Mol Genet 1998 Oct;7(11):1831]

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Characterisation of the human GFRalpha-3 locus and investigation of the gene in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Synergistic heterozygosity: disease resulting from multiple partial defects in one or more metabolic pathways

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Heterozygosity: an expanding role in proteomics

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

A gene for Hirschsprung disease maps to the proximal long arm of chromosome 10.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Frequency of RET mutations in long- and short-segment Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

From genotypes to genes: doubling the sample size

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Down's syndrome and the gastrointestinal tract.

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

Two distinct mutations of the RET receptor causing Hirschsprung's disease impair the binding of signalling effectors to a multifunctional docking site

1 reference

https://api.crossref.org/works/10.1016%2FS0140-6736%2802%2908218-1

7 January 2021

10.1016/S0140-6736(02)08218-1

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:11955539%20AND%20SRC:MED&resulttype=core&format=json

9 December 2019

1 reference