Epimutation (hypomethylation) affecting the chromosome 14q32.2 imprinted region in a girl with upd(14)mat-like phenotype
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
http://www.nature.com/articles/ejhg200890.pdf
Reference20 articles.
1. Kotzot D : Maternal uniparental disomy 14 dissection of the phenotype with respect to rare autosomal recessively inherited traits, trisomy mosaicism, and genomic imprinting. Ann Genet 2004; 47: 251–260.
2. Cavaille J, Seitz H, Paulsen M, Ferguson-Smith AC, Bachellerie JP : Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Hum Mol Genet 2002; 11: 1527–1538.
3. Charlier C, Segers K, Wagenaar D et al: Human-ovine comparative sequencing of a 250-kb imprinted domain encompassing the callipyge (clpg) locus and identification of six imprinted transcripts: DLK1, DAT, GTL2, PEG11, antiPEG11, and MEG8. Genome Res 2001; 11: 850–862.
4. Li E, Beard C, Jaenisch R : Role for DNA methylation in genomic imprinting. Nature 1993; 366: 362–365.
5. Kagami M, Sekita Y, Nishimura G et al: Deletions and epimutations affecting the human chromosome 14q32.2 imprinted region: implications for the phenotypic development in paternal and maternal uniparental disomy for chromosome 14. Nat Genet 2008; 40: 237–242.
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