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Filters: Keyword is Beckwith-Wiedemann Syndrome [Clear All Filters]
Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission. J Med Genet. 2014;51(8):502-11. doi:10.1136/jmedgenet-2014-102368.
Epigenetic and genetic disturbance of the imprinted 11p15 region in Beckwith-Wiedemann and Silver-Russell syndromes. Clin Genet. 2012;81(4):350-61. doi:10.1111/j.1399-0004.2011.01822.x.
. Epigenetic and genetic mechanisms of abnormal 11p15 genomic imprinting in Silver-Russell and Beckwith-Wiedemann syndromes. Curr Med Chem. 2011;18(12):1740-50.
. New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat. 2011;32(10):1171-82. doi:10.1002/humu.21558.