(Q74302459)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

title

Occurrence of MEN 2a in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

main subject

Hirschsprung's disease

1 reference

R A Decker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

M L Peacock

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

language of work or name

English

0 references

publication date

1 February 1998

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

Journal of Pediatric Surgery

10 November 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

volume

33

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

page(s)

207-214

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

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

10 November 2019

cites work

1 reference

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Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.

7 January 2021

1 reference

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Genetic aspects of multiple endocrine neoplasia

7 January 2021

1 reference

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Evaluation of children with multiple endocrine neoplasia type IIb following thyroidectomy

7 January 2021

1 reference

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Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests

7 January 2021

1 reference

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RET proto-oncogene mutations in French MEN 2A and FMTC families

7 January 2021

1 reference

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Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas

7 January 2021

1 reference

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Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours

7 January 2021

1 reference

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Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis

7 January 2021

1 reference

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Hirschsprung's disease in a family with multiple endocrine neoplasia type 2.

7 January 2021

1 reference

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Hirschsprung's disease. Evaluation of mortality and long-term function in 260 cases

7 January 2021

1 reference

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Pheochromocytomas, multiple endocrine neoplasia type 2, and von Hippel-Lindau disease

7 January 2021

1 reference

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Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s

7 January 2021

1 reference

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Computational simulation of DNA melting and its application to denaturing gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Detection of RET mutations in multiple endocrine neoplasia type 2a and familial medullary thyroid carcinoma by denaturing gradient gel electrophoresis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Mutational analysis of multiple endocrine neoplasia type 2A associated with Hirschsprung's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Clinical presentations and RET protooncogene mutations in seven multiple endocrine neoplasia type 2 kindreds

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Oncogenic RET receptors display different autophosphorylation sites and substrate binding specificities

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

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Loss of function effect of RET mutations causing Hirschsprung disease.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Characterization of a multicomponent receptor for GDNF.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Renal and neuronal abnormalities in mice lacking GDNF

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

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

7 January 2021

1 reference

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Medullary carcinoma in children. Results of early detection and surgery

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A

7 January 2021

1 reference

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Testing children for genetic predispositions: is it in their best interest?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FS0022-3468%2898%2990433-X

10.1016/S0022-3468(98)90433-X

7 January 2021

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9498388%20AND%20SRC:MED&resulttype=core&format=json

10 November 2019

1 reference