(Q36690582)

15 August 2017

The optimal range of RET mutations to be tested: European comments to the guidelines of the American Thyroid Association (English)

1 reference

15 August 2017

Laura Fugazzola

1

1 reference

15 August 2017

Simone De Leo

series ordinal

2

1 reference

15 August 2017

Michela Perrino

series ordinal

3

1 reference

15 August 2017

14 March 2013

1 reference

15 August 2017

1 reference

15 August 2017

6 Suppl 1

1 reference

15 August 2017

S8

1 reference

Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms

15 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Genetics of pheochromocytomas and paragangliomas

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Medullary thyroid cancer: management guidelines of the American Thyroid Association

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Hirschsprung disease, associated syndromes and genetics: a review

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Sporadic hypercalcitoninemia: clinical and therapeutic consequences

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

A new germline point mutation in Ret exon 8 (cys515ser) in a family with medullary thyroid carcinoma

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

High prevalence of exon 8 G533C mutation in apparently sporadic medullary thyroid carcinoma in Greece.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Extended RET gene analysis in patients with apparently sporadic medullary thyroid cancer: clinical benefits and cost.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

RET genetic screening of sporadic medullary thyroid cancer (MTC) allows the preclinical diagnosis of unsuspected gene carriers and the identification of a relevant percentage of hidden familial MTC (FMTC).

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

The RET polymorphic allele S836S is associated with early metastatic disease in patients with hereditary or sporadic medullary thyroid carcinoma.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Familial medullary thyroid carcinoma associated with cutaneous lichen amyloidosis.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Early diagnosis of multiple endocrine neoplasia type 2B: a challenge for physicians.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

RET is constitutively activated by novel tandem mutations that alter the active site resulting in multiple endocrine neoplasia type 2B.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

A Novel Germ-Line Point Mutation in RET Exon 8 (Gly533Cys) in a Large Kindred with Familial Medullary Thyroid Carcinoma

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Frequent association between MEN 2A and cutaneous lichen amyloidosis

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Familial medullary thyroid carcinoma and prominent corneal nerves associated with the germline V804M and V778I mutations on the same allele of RET.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Two germline missense mutations at codons 804 and 806 of the RET proto-oncogene in the same allele in a patient with multiple endocrine neoplasia type 2B without codon 918 mutation.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3599734

Skewed X inactivation is associated with phenotype in a female with adrenal hypoplasia congenita.

5 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1756-6614-6-S1-S8

GermlineRETV804M mutation associated with multiple endocrine neoplasia type 2A

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1756-6614-6-S1-S8

Adrenal and extra-adrenal pheochromocytomas in a family with germline RET V804L mutation

21 January 2018

1 reference

12 December 2020

Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918

1 reference

12 December 2020

Polymorphisms G691S/S904S of RET as genetic modifiers of MEN 2A

1 reference

12 December 2020

Extrathyroidal manifestations of multiple endocrine neoplasia type 2

1 reference

12 December 2020

Incidence of prominent corneal nerves in multiple endocrine neoplasia type 2A

1 reference

12 December 2020

RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype

1 reference

12 December 2020

Polymorphisms in the RET proto-oncogene and the phenotypic presentation of familial medullary thyroid carcinoma

1 reference

12 December 2020

The Natural Course of Multiple Endocrine Neoplasia Type iib

1 reference

12 December 2020

Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation

1 reference

12 December 2020

An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma

1 reference

12 December 2020

Prophylactic thyroidectomy in RET carriers at risk for hereditary medullary thyroid cancer

1 reference

12 December 2020

10.1186/1756-6614-6-S1-S8

Identifiers

DOI

1 reference

Dimensions Publication ID

15 August 2017

0 references

1 reference

15 August 2017

PubMed publication ID

23514012

1 reference