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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2011-6-27
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pubmed:abstractText |
Severe hypomethylation of the H19 imprinted control region (ICR1) in two patients with Silver-Russell syndrome (SRS) who have genital malformations has encouraged us to study DNA methylation in a cohort of 83 patients with Müllerian aplasia (MA). Site-specific methylation analyses of H19 ICR1 by quantitative real-time polymerase chain reaction in 80 clinically well-diagnosed Finnish MA patients showed no association between hypomethylation and the MA phenotype, but studies of the H19 locus in 38 patients showed aberrant methylation in 3/16 studied sites.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1556-5653
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pubmed:author |
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pubmed:copyrightInfo |
Copyright © 2011 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.
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pubmed:issnType |
Electronic
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pubmed:day |
30
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pubmed:volume |
95
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2703-6
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pubmed:dateRevised |
2011-10-7
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pubmed:meshHeading |
pubmed-meshheading:21458801-46, XX Disorders of Sex Development,
pubmed-meshheading:21458801-Abnormalities, Multiple,
pubmed-meshheading:21458801-Case-Control Studies,
pubmed-meshheading:21458801-Congenital Abnormalities,
pubmed-meshheading:21458801-CpG Islands,
pubmed-meshheading:21458801-DNA Methylation,
pubmed-meshheading:21458801-Female,
pubmed-meshheading:21458801-Finland,
pubmed-meshheading:21458801-Genetic Predisposition to Disease,
pubmed-meshheading:21458801-Genomic Imprinting,
pubmed-meshheading:21458801-Humans,
pubmed-meshheading:21458801-Mullerian Ducts,
pubmed-meshheading:21458801-Phenotype,
pubmed-meshheading:21458801-Polymerase Chain Reaction,
pubmed-meshheading:21458801-RNA, Untranslated,
pubmed-meshheading:21458801-Uterus,
pubmed-meshheading:21458801-Vagina
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pubmed:year |
2011
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pubmed:articleTitle |
Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.
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pubmed:affiliation |
Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland. maria.sandbacka@helsinki.fi
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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