(Q48675067)

English

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations.

scientific article published in April 2009

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Multiple endocrine neoplasia type 2 RET protooncogene database: repository of MEN2-associated RET sequence variation and reference for genotype/phenotype correlations. (English)

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

0 references

multiple endocrine neoplasia type 2

1 reference

based on heuristic

inferred from title

author name string

Rebecca L Margraf

1

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

David K Crockett

2

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Patti M F Krautscheid

3

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Ryan Seamons

4

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Fernanda R O Calderon

5

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Carl T Wittwer

6

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

Rong Mao

7

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

publication date

1 April 2009

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

30

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

4

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

548-556

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

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.

1 reference

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21 January 2018

The familial medullary thyroid carcinoma-associated RET E768D mutation in a multiple endocrine neoplasia type 2A case

1 reference

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7 January 2021

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Genetic testing in pheochromocytoma or functional paraganglioma

1 reference

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7 January 2021

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Hirschsprung disease, associated syndromes and genetics: a review

1 reference

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7 January 2021

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Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease

1 reference

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7 January 2021

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A RET Mutation with Decreased Penetrance in the Family of a Patient with a

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Polymorphisms in exon 13 and intron 14 of the RET protooncogene: genetic modifiers of medullary thyroid carcinoma?

1 reference

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7 January 2021

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Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B

1 reference

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7 January 2021

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Polymorphisms in the initiators of RET (rearranged during transfection) signaling pathway and susceptibility to sporadic medullary thyroid carcinoma

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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Surgical strategy in a kindred with a rare RET protooncogene mutation of variable penetrance with regard to multiple endocrine neoplasia

1 reference

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7 January 2021

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Characterization of the RET protooncogene transmembrane domain mutation S649L associated with nonaggressive medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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

1 reference

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7 January 2021

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RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease

1 reference

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7 January 2021

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

1 reference

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7 January 2021

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RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients

1 reference

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7 January 2021

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Novel intronic polymorphisms in theRET proto-oncogene and their association with Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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Update on the MEN 2A c804 RET mutation: is prophylactic thyroidectomy indicated?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

GermlineRETV804M mutation associated with multiple endocrine neoplasia type 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia, type IIA: Implications for therapy

1 reference

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Germ line mutation analysis in families with multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

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7 January 2021

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Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC

1 reference

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7 January 2021

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RET signaling in endocrine tumors: delving deeper into molecular mechanisms.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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Experience of prophylactic thyroidectomy in multiple endocrine neoplasia type 2A kindreds with RET codon 804 mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

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Germline Homozygous Mutations at Codon 804 in theRETProtooncogene in Medullary Thyroid Carcinoma/Multiple Endocrine Neoplasia Type 2A Patients

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

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inferred from DOI database lookup

Early Malignant Progression of Hereditary Medullary Thyroid Cancer

1 reference

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7 January 2021

based on heuristic

inferred from DOI database lookup

Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Advances in the management of hereditary medullary thyroid cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

DNA-based window of opportunity for curative pre-emptive therapy of hereditary medullary thyroid cancer

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Risk-oriented approach to hereditary adrenal pheochromocytoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Germ-line mutations in nonsyndromic pheochromocytoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Pheochromocytoma in multiple endocrine neoplasia type 2: a prospective study.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Endocrine changes associated with the human aging process: III. Effect of age on the number of calcitonin immunoreactive cells in the thyroid gland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

External ophthalmic findings in multiple endocrine neoplasia type 2B

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Loss of function effect of RET mutations causing Hirschsprung disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

The occurrence and the type of germline mutations in the RET gene in patients with medullary thyroid carcinoma and their unaffected kindred's from Central Poland

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Pheochromocytoma penetrance varies by RET mutation in MEN 2A

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Asymptomatic bilateral adrenal pheochromocytoma in a patient with a germline V804M mutation in the RET proto-oncogene.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Genetic alterations of the RET proto-oncogene in familial and sporadic pheochromocytomas

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Distinct biological properties of two RET isoforms activated by MEN 2A and MEN 2B mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Oncological implications of RET gene mutations in Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple endocrine neoplasia 2A syndrome: Surgical management

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline mutation of RET codon 883 in two cases of de novo MEN 2B.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Human Gene Mutation Database (HGMD): 2003 update

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Y791F RET mutation and early onset of medullary thyroid carcinoma in a Brazilian kindred: evaluation of phenotype-modifying effect of germline variants

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequent association between MEN 2A and cutaneous lichen amyloidosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Codon Y791F mutations in a large kindred: is prophylactic thyroidectomy always indicated?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

C-Cell Hyperplasia Preceding Medullary Thyroid Carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Failure to recognize multiple endocrine neoplasia 2B: more common than we think?

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20928

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20928

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

14 February 2018

http://europepmc.org/abstract/MED/19177457

ResearchGate publication ID

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