Publications
Found 3 results
Filters: Keyword is Humans and Author is Demars, Julie [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.
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.
High resolution physical map of porcine chromosome 7 QTL region and comparative mapping of this region among vertebrate genomes. BMC Genomics. 2006;7:13. doi:10.1186/1471-2164-7-13.