Source:http://linkedlifedata.com/resource/pubmed/id/15924231
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2005-8-3
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pubmed:abstractText |
Transient neonatal diabetes mellitus (TNDM) is associated with paternal over-expression of an imprinted locus on chromosome 6q24, which contains one differentially methylated region (DMR); maternal demethylation at the DMR accounts for approximately 20% of cases. Here we report female monozygous triplets, two of whom have TNDM arising from loss of maternal methylation within the TNDM DMR.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
117
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
398-401
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15924231-Chromosomes, Human, Pair 6,
pubmed-meshheading:15924231-DNA Methylation,
pubmed-meshheading:15924231-Diabetes Mellitus,
pubmed-meshheading:15924231-Female,
pubmed-meshheading:15924231-Genomic Imprinting,
pubmed-meshheading:15924231-Humans,
pubmed-meshheading:15924231-Infant, Newborn,
pubmed-meshheading:15924231-Infant, Newborn, Diseases,
pubmed-meshheading:15924231-Microsatellite Repeats,
pubmed-meshheading:15924231-Polymerase Chain Reaction,
pubmed-meshheading:15924231-Triplets
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pubmed:year |
2005
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pubmed:articleTitle |
Monozygous triplets discordant for transient neonatal diabetes mellitus and for imprinting of the TNDM differentially methylated region.
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pubmed:affiliation |
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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