Browsing by Author "Kraan, Claudine M."

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    • Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features 
      Baker, Emma K.; Arpone, Marta; Aliaga, Solange M.; Bretherton, Lesley; Kraan, Claudine M.; Bui, Minh; Slater, Howard R.; Ling, Ling; Francis, David; Hunter, Matthew F.; Elliott, Justine; Rogers, Carolyn; Field, Michael; Cohen, Jonathan; Cornish, Kim; Santa María Vásquez, Lorena; Faundes, Víctor; Curotto, Bianca; Morales, Paulina; Trigo, César; Salas, Isabel; Alliende, Angélica M.; Amor, David J.; Godle, David E. (BioMed Central, 2019)
      Background: Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, ...