(Q45183855)

10 December 2017

title

Novel germline mutation in the transmembrane region of RET gene close to Cys634Ser mutation associated with MEN 2A syndrome (English)

1 reference

10 December 2017

main subject

transmembrane protein

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author name string

M Poturnajova

1

1 reference

10 December 2017

V Altanerova

2

1 reference

10 December 2017

L Kostalova

3

1 reference

10 December 2017

J Breza

4

1 reference

10 December 2017

C Altaner

5

1 reference

10 December 2017

publication date

9 December 2004

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Journal of Molecular Medicine

10 December 2017

published in

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10 December 2017

volume

83

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10 December 2017

issue

4

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10 December 2017

page(s)

287-295

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

10 December 2017

cites work

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00109-004-0604-6

Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma.

21 January 2018

1 reference

12 December 2020

Germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2

1 reference

12 December 2020

Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etude des Tumeurs à Calcitonine.

1 reference

12 December 2020

Genome-wide copy number imbalances identified in familial and sporadic medullary thyroid carcinoma

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

Genotype-phenotype correlation of patients with multiple endocrine neoplasia type 2 in Japan.

1 reference

12 December 2020

Early diagnosis of medullary thyroid carcinoma in a 13 years old girl

1 reference

12 December 2020

A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RET protooncogene

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties

1 reference

12 December 2020

Loss of heterozygosity at the RET protooncogene locus in a case of multiple endocrine neoplasia type 2A

1 reference

12 December 2020

Three novel mutations in the RET proto-oncogene

1 reference

12 December 2020

Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas

1 reference

12 December 2020

Partial restoration of degraded DNA from archival paraffin-embedded tissues

1 reference

12 December 2020

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

1 reference

12 December 2020

Cancers connected with mutations in RET proto-oncogene

1 reference

12 December 2020

Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma

1 reference

12 December 2020

Mutations of the ret protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. German Medullary Thyroid Carcinoma Study Group

1 reference

12 December 2020

10.1007/S00109-004-0604-6

Identifiers

DOI

1 reference

Dimensions Publication ID

10 December 2017

1041037364

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1 reference