Browsing by Author "7d390516-cf47-4e8f-80b4-77bc0ef64ca3"

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    • Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson's disease 
      Butcher, Nancy J.; Marras, Connie; Pondal, Margarita; Rusjan, Pablo; Boot, Erik; Christopher, Leigh; Repetto, Gabriela M.; Fritsch, Rosemarie; Chow, Eva W.C.; Masellis, Mario; Strafella, Antonio P.; Lang, Anthony E.; Bassett, Anne S. (Oxford University Press, 2017)
      © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain. All rights reserved.The recurrent 22q11.2 deletion is a genetic risk factor for early-onset Parkinson's disease. Adults with ...
    • Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital ... 
      León, Luis; Benavides, Felipe; Espinoza, Karena; Vial, Cecilia; Alvarez Zenteno, Patricia; Lay Son, Guillermo; Miranda, Macarena; Repetto, Gabriela (Nature, 2017)
      22q11.2 microdeletion syndrome (22q11.2DS) is the most common microdeletion disorder in humans, with an incidence of 1/4000 live births. It is caused by a heterozygous deletion of 1.5-3 Mb on chromosome region 22q11.2. ...