Source:http://linkedlifedata.com/resource/pubmed/id/10931102
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
2
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pubmed:dateCreated |
2000-10-10
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pubmed:abstractText |
The majority of reports describing the natural history and prognosis of multiple endocrine neoplasia type 1 (MEN 1) utilize phenotypic rather than molecular genetic criteria to establish a diagnosis of MEN 1. OBJECTIVES AND PATIENTS: We sought to determine the spectrum of endocrine abnormality amongst 152 members (64 gene carriers and 88 noncarriers) of a large MEN 1 family in whom a determination of MEN 1 status had previously been made by phenotype screening. The predictive utility of both clinical and molecular screening techniques are described.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0300-0664
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
53
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
205-11
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:10931102-Adult,
pubmed-meshheading:10931102-Case-Control Studies,
pubmed-meshheading:10931102-Chi-Square Distribution,
pubmed-meshheading:10931102-Female,
pubmed-meshheading:10931102-Genetic Markers,
pubmed-meshheading:10931102-Genotype,
pubmed-meshheading:10931102-Haplotypes,
pubmed-meshheading:10931102-Heterozygote,
pubmed-meshheading:10931102-Humans,
pubmed-meshheading:10931102-Male,
pubmed-meshheading:10931102-Multiple Endocrine Neoplasia Type 1,
pubmed-meshheading:10931102-Pedigree,
pubmed-meshheading:10931102-Phenotype,
pubmed-meshheading:10931102-Polymorphism, Single-Stranded Conformational,
pubmed-meshheading:10931102-Sequence Analysis, DNA
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pubmed:year |
2000
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pubmed:articleTitle |
Phenotype and phenocopy: the relationship between genotype and clinical phenotype in a single large family with multiple endocrine neoplasia type 1 (MEN 1).
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pubmed:affiliation |
Departments of Diabetes and Endocrine Services; Clinical Chemistry, Royal Hobart Hospital, Hobart, Australia. jburges@postoffice.utas.edu.au
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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