Journal
FERTILITY AND STERILITY
Volume 95, Issue 8, Pages 2703-2706Publisher
ELSEVIER SCIENCE INC
DOI: 10.1016/j.fertnstert.2011.03.019
Keywords
DNA methylation; H19; MURCS; MRKH syndrome; Mullerian aplasia
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Funding
- Victoria Foundation
- Medicinska Understodsforeningen Liv och Halsa Foundation
- Paivikki and Sakari Sohlberg Foundation
- Swedish Research Council
- Samfundet Folkhalsan in Finland
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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 Mullerian 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. (Fertil Steril (R) 2011;95:2703-6. (C)2011 by American Society for Reproductive Medicine.)
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