(Q35352874)

7 August 2017

Oncological implications of RET gene mutations in Hirschsprung's disease (English)

1 reference

7 August 2017

1

Sijmons RH

1 reference

7 August 2017

Hofstra RM

2

1 reference

7 August 2017

Wijburg FA

3

1 reference

7 August 2017

Links TP

4

1 reference

7 August 2017

Zwierstra RP

5

1 reference

7 August 2017

Vermey A

6

1 reference

7 August 2017

Aronson DC

7

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7 August 2017

Tan-Sindhunata G

8

1 reference

7 August 2017

Brouwers-Smalbraak GJ

9

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7 August 2017

Maas SM

10

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7 August 2017

Buys CH

11

1 reference

7 August 2017

language of work or name

English

0 references

publication date

1 October 1998

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7 August 2017

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7 August 2017

43

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7 August 2017

4

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7 August 2017

542-547

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Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting

7 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Neurturin responsiveness requires a GPI-linked receptor and 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=1727297

A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Application of genetic screening information to the management of medullary thyroid carcinoma and multiple endocrine neoplasia type 2.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

C618R mutation in exon 10 of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and 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=1727297

A mutation in the RET proto-oncogene in Hirschsprung's disease affects the tyrosine kinase activity associated with multiple endocrine neoplasia type 2A and 2B

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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=1727297

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=1727297

Molecular heterogeneity of RET loss of function 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=1727297

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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=1727297

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=1727297

The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN2A kindred.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and 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=1727297

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

The genetics of Hirschsprung's disease. Evidence for heterogeneous etiology and a study of sixty-three families.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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=1727297

Early diagnosis of the multiple endocrine neoplasia type 2 syndrome: consensus statement. European Community Concerted Action: Medullary Thyroid Carcinoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Long-term follow-up of a large North American kindred with multiple endocrine neoplasia type 2A

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

Diverse phenotypes associated with exon 10 mutations 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=1727297

Loss of function effect of RET mutations causing Hirschsprung disease.

26 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1727297

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

26 September 2018

1 reference

12 December 2020

A 7 bp deletion of the RET proto-oncogene in familial Hirschsprung‘s disease

1 reference

12 December 2020

De-novo mutations of the RET proto-oncogene in Hirschsprung's disease

1 reference

12 December 2020

Heterogeneity and low detection rate of RET mutations in Hirschsprung disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

12 December 2020

The RET proto‐oncogene and cancer

1 reference

12 December 2020

Risk estimation and screening in families of patients with medullary thyroid carcinoma

1 reference

12 December 2020

The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience

1 reference

12 December 2020

RET Mutation Screening in Familial Cutaneous Lichen Amyloidosis and in Skin Amyloidosis Associated With Multiple Endocrine Neoplasia

1 reference

12 December 2020

The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families

1 reference

12 December 2020

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain

1 reference

12 December 2020

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

1 reference

12 December 2020

Long-term follow-up of patients with medullary carcinoma of the thyroid

1 reference

12 December 2020

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

1 reference

12 December 2020

Hirschsprung disease in MEN 2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation

1 reference

12 December 2020

Clinical use of molecular information in the management of multiple endocrine neoplasia type 2A

1 reference

12 December 2020

Genotype‐phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium

1 reference

12 December 2020

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

1 reference

12 December 2020

Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A

1 reference

12 December 2020

Identifiers

DOI

10.1136/GUT.43.4.542

1 reference

release_uluuei2gmzbcjofr3fsek3iuqu

7 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/uluuei2gmzbcjofr3fsek3iuqu

24 November 2022

mapped directly with Wikidata item

PMCID

1727297

1 reference

7 August 2017

1 reference