Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci-Reference-Cited by-同舟云学术

Imprinting disorders: a group of congenital disorders with overlapping patterns of molecular changes affecting imprinted loci

Published:2015-11-14 Issue:1 Volume:7 Page:
ISSN:1868-7075
Container-title:Clinical Epigenetics
language:en
Short-container-title:Clin Epigenet

Author:

Eggermann Thomas,Perez de Nanclares Guiomar,Maher Eamonn R.,Temple I. Karen,Tümer Zeynep,Monk David,Mackay Deborah J. G.,Grønskov Karen,Riccio Andrea,Linglart Agnès,Netchine Irène

Funder

European Cooperation in Science and Technology (BE)

Bundesministerium für Bildung und Forschung (DE)

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Developmental Biology,Genetics,Molecular Biology

Link

http://link.springer.com/content/pdf/10.1186/s13148-015-0143-8

Reference88 articles.

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2. Kalish JM, Conlin LK, Bhatti TR, Dubbs HA, Harris MC, Izumi K, et al. Clinical features of three girls with mosaic genome-wide paternal uniparental isodisomy. Am J Med Genet A. 2013;161:1929–39.

3. Eggermann T, Soellner L, Buiting K, Kotzot D. Mosaicism and uniparental disomy in prenatal diagnosis. Trends Mol Med. 2015;21:77–87.

4. Shaffer LG, Agan N, Goldberg JD, Ledbetter DH, Longshore JW, Cassidy SB. American college of medical genetics statement on diagnostic testing for uniparental disomy. Genet Med. 2001;3:206–11.

5. Abi Habib W, Azzi S, Brioude F, Steunou V, Thibaud N, Das Neves C, et al. Extensive investigation of the IGF2/H19 imprinting control region reveals novel OCT4/SOX2 binding site defects associated with specific methylation patterns in Beckwith-Wiedemann syndrome. Hum Mol Genet. 2014;23:5763–73.

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