title: Methylation of H19 and its imprinted control region (H19 ICR1) in Müllerian aplasia.
abstract: 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.
authors: Folkhälsan Institute of Genetics, Biomedicum Helsinki, P.O. Box 63, FIN-00014 University of Helsinki, Helsinki, Finland. maria.sandbacka@helsinki.fi
authors: Maria
authors: M
authors: Sandbacka
authors: Sara
authors: S
authors: Bruce
authors: Mervi
authors: M
authors: Halttunen
authors: Minna
authors: M
authors: Puhakka
authors: Päivi
authors: P
authors: Lahermo
authors: Katariina
authors: K
authors: Hannula-Jouppi
authors: Marita
authors: M
authors: Lipsanen-Nyman
authors: Juha
authors: J
authors: Kere
authors: Kristiina
authors: K
authors: Aittomäki
authors: Hannele
authors: H
authors: Laivuori
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis / Q000235:genetics; D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D016022:Case-Control Studies; D000013:Congenital Abnormalities / Q000175:diagnosis / Q000235:genetics; D018899:CpG Islands; D019175:DNA Methylation; D005260:Female; D005387:Finland; D020022:Genetic Predisposition to Disease; D018392:Genomic Imprinting; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D009095:Mullerian Ducts / Q000002:abnormalities; D010641:Phenotype; D016133:Polymerase Chain Reaction / Q000379:methods; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated / Q000235:genetics*; D019170:Somites / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D014599:Uterus / Q000002:abnormalities; D014621:Vagina / Q000002:abnormalities
chemical_list: C094335:H19 long non-coding RNA; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated