Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers
Author:
Funder
Deutsche Forschungsgemeinschaft (German Research Foundation)
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/s41431-018-0269-1.pdf
Reference33 articles.
1. Wakeling EL, Brioude F, Lokulo-Sodipe O, O'Connell SM, Salem J, Bliek J. Diagnosis and management of Silver-Russell syndrome: first international consensus statement. Nat Rev Endocrinol. 2017;13:105–24.
2. Mackay DJ, Eggermann T, Buiting K, et al. Multilocus methylation defects in imprinting disorders. Biomol Concepts. 2015;6:47–57.
3. Azzi S, Blaise A, Steunou V, et al. Complex tissue-specific epigenotypes in Russell-Silver Syndrome associated with 11p15 ICR1 hypomethylation. Hum Mutat. 2014;35:1211–20.
4. Azzi S, Abi Habib W, Netchine I. Beckwith-Wiedemann and Russell-Silver Syndromes: from new molecular insights to the comprehension of imprinting regulation. Curr Opin Endocrinol Diabetes Obes. 2014;21:30–8.
5. Hur SK, Freschi A, Ideraabdullah F, et al. Humanized H19/Igf2 locus reveals diverged imprinting mechanism between mouse and human and reflects Silver-Russell syndrome phenotypes. Proc Natl Acad Sci USA. 2016;113:10938–43.
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