|
rdf:type |
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lifeskim:mentions |
umls-concept:C0001629,
umls-concept:C0015576,
umls-concept:C0025148,
umls-concept:C0026882,
umls-concept:C0033713,
umls-concept:C0238463,
umls-concept:C0521115,
umls-concept:C0543431,
umls-concept:C0694890,
umls-concept:C0752046,
umls-concept:C1514623,
umls-concept:C1516451,
umls-concept:C1527148,
umls-concept:C1550278,
umls-concept:C1551336
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|
pubmed:issue |
6
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|
pubmed:dateCreated |
2010-12-7
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|
pubmed:abstractText |
Single nucleotide polymorphisms (SNPs) may function as modifiers of the RET proto-oncogene, resulting in the expression of medullary thyroid carcinoma (MTC) and papillary thyroid carcinoma (PTC). We present 2 non-related Italian-American families (Family 1, n = 107; Family 2, n = 31) with the RET V804M mutation. We have correlated the presence of specific SNPs and the rare RET V804M mutation to MTC, C-cell hyperplasia (CCH), and PTC.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
|
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pubmed:status |
MEDLINE
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pubmed:month |
Dec
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pubmed:issn |
1532-7361
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2010 Mosby, Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:volume |
148
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1274-80; discussion 1280-1
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pubmed:meshHeading |
pubmed-meshheading:21134561-Adolescent,
pubmed-meshheading:21134561-Adult,
pubmed-meshheading:21134561-Aged,
pubmed-meshheading:21134561-Child,
pubmed-meshheading:21134561-Child, Preschool,
pubmed-meshheading:21134561-Exons,
pubmed-meshheading:21134561-Family,
pubmed-meshheading:21134561-Female,
pubmed-meshheading:21134561-Gene Rearrangement,
pubmed-meshheading:21134561-Humans,
pubmed-meshheading:21134561-Hyperparathyroidism, Primary,
pubmed-meshheading:21134561-Male,
pubmed-meshheading:21134561-Middle Aged,
pubmed-meshheading:21134561-Mutation,
pubmed-meshheading:21134561-Pedigree,
pubmed-meshheading:21134561-Polymorphism, Single Nucleotide,
pubmed-meshheading:21134561-Proto-Oncogene Proteins c-ret,
pubmed-meshheading:21134561-Retrospective Studies,
pubmed-meshheading:21134561-Thyroid Neoplasms
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pubmed:year |
2010
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pubmed:articleTitle |
Single nucleotide polymorphisms act as modifiers and correlate with the development of medullary and simultaneous medullary/papillary thyroid carcinomas in 2 large, non-related families with the RET V804M proto-oncogene mutation.
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pubmed:affiliation |
Department of Surgery, Jersey Shore University Medical Center, Neptune, NJ 07754, USA. ashifrin@meridianhealth.com
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pubmed:publicationType |
Journal Article
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