(Q42698458)

5 November 2017

Association of RET protooncogene codon 45 polymorphism with Hirschsprung disease (English)

1 reference

5 November 2017

Fitze G

1

1 reference

5 November 2017

Schreiber M

2

1 reference

5 November 2017

Kuhlisch E

3

1 reference

5 November 2017

Schackert HK

4

1 reference

5 November 2017

Roesner D

5

1 reference

5 November 2017

language of work or name

English

0 references

publication date

1 November 1999

1 reference

American Journal of Human Genetics

5 November 2017

1 reference

5 November 2017

65

1 reference

5 November 2017

5

1 reference

5 November 2017

1469-1473

1 reference

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

5 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Dual effect on the RET receptor of MEN 2 mutations affecting specific extracytoplasmic cysteines

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Somatic in frame deletions not involving juxtamembranous cysteine residues strongly activate the RET proto-oncogene

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

RET activation by germline MEN2A and MEN2B mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Parent-of-origin effects in multiple endocrine neoplasia type 2B

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

A genetic study of Hirschsprung disease

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Genetic Linkage of Lung Cancer-Associated MspI Polymorphisms with Amino Acid Replacement in the Heme Binding Region of the Human Cytochrome P450IA1 Gene1

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

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

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1288303

Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation

16 August 2018

1 reference

12 December 2020

A novel polymorphism in the coding sequence of the human RET proto-oncogene

1 reference

12 December 2020

Identification of a polymorphism in exon 11 of the RET protooncogene

1 reference

12 December 2020

RET mutations in exons 13 and 14 of FMTC patients

1 reference

12 December 2020

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1086/302618

1 reference

5 November 2017

1 reference

5 November 2017

1 reference