(Q35430801)

English

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

author name string

S Borrego

1

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

M E Sáez

2

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

A Ruiz

3

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

O Gimm

4

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

M López-Alonso

5

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

G Antiñolo

6

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

C Eng

7

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

language of work or name

0 references

publication date

1 October 1999

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

Journal of Medical Genetics

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

36

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

771-774

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

The deltaccr5 mutation conferring protection against HIV-1 in Caucasian populations has a single and recent origin in Northeastern Europe.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

A genetic study of Hirschsprung disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

27 July 2018

RET proto-oncogene in the development of human cancer

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

Expression of the ret proto-oncogene product in human normal and neoplastic tissues of neural crest origin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1734238

26 September 2018

Mutation analysis of the RET receptor tyrosine kinase in Hirschsprung disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gln-Arg192 polymorphism of paraoxonase and coronary heart disease in type 2 diabetes

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Low frequency of RET mutations in Hirschsprung disease in Sweden

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/10528857

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMG.36.10.771

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

8 August 2017

ResearchGate publication ID

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