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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1986-8-18
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pubmed:abstractText |
We measured multiple components of serum or plasma in 221 members of a kindred with familial multiple endocrine neoplasia type 1 (FMEN1). The kindred showed typical features of FMEN1; the FMEN1 gene could be traced through 7 generations with 74 members identifiable as gene carriers. Between family screening in 1981 and completion of our study in 1985, we identified 16 previously unscreened members as carriers of the FMEN1 gene. The earliest age at diagnosis of FMEN1 was 17. The tests with the greatest yield of abnormal results among carriers of the FMEN1 gene were albumin-adjusted calcium, PTH, gastrin, and (in females) prolactin. The following tests provided little or no use in identifying carriers: prolactin (in males), pancreatic polypeptide, glucagon, glicentin, insulin, growth hormone, motilin, and somatostatin. Primary hyperparathyroidism was the commonest expression of the FMEN1 gene; the gene penetrance for this trait increased from near 0% before age 15 to near 100% after age 40. It appeared prior to development of serious morbidity from hypergastrinemia or hyperprolactinemia. All 42 co-operating members who were alive and expressing the FMEN1 gene in 1984 showed active or treated primary hyperparathyroidism. Primary hypergastrinemia had a prevalence below half of that for primary hyperparathyroidism at all ages and was not diagnosed in the absence of primary hyperparathyroidism. Primary hyperprolactinemia was still less prevalent than primary hypergastrinemia. It was limited almost exclusively to females.
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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
AIM
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0025-7974
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
65
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
226-41
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:2873498-Adolescent,
pubmed-meshheading:2873498-Adult,
pubmed-meshheading:2873498-Aged,
pubmed-meshheading:2873498-Aging,
pubmed-meshheading:2873498-Child,
pubmed-meshheading:2873498-Child, Preschool,
pubmed-meshheading:2873498-Female,
pubmed-meshheading:2873498-Gene Frequency,
pubmed-meshheading:2873498-Genes, Dominant,
pubmed-meshheading:2873498-Genetic Testing,
pubmed-meshheading:2873498-Heterozygote Detection,
pubmed-meshheading:2873498-Humans,
pubmed-meshheading:2873498-Male,
pubmed-meshheading:2873498-Middle Aged,
pubmed-meshheading:2873498-Multiple Endocrine Neoplasia,
pubmed-meshheading:2873498-Pedigree
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pubmed:year |
1986
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pubmed:articleTitle |
Multiple endocrine neoplasia type I: assessment of laboratory tests to screen for the gene in a large kindred.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Case Reports
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