Browsing by Subject "Copy-number variation"

Now showing items 1-3 of 3

    • Arsenic-related DNA copy-number alterations in lung squamous cell carcinomas 
      Martínez, V. D.; Buys, T. P. H.; Adonis, M.; Benítez, H.; Gallegos, I.; Lam, S.; Lam, W. L.; Gil, L. (Nature, 2010)
      BACKGROUND: Lung squamous cell carcinomas (SqCCs) occur at higher rates following arsenic exposure. Somatic DNA copy-number alterations (CNAs) are understood to be critical drivers in several tumour types. We have assembled ...
    • Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion 
      Cleynen, Isabelle; Engchuan, Worrawat; Hestand, Matthew S.; Heung, Tracy; Holleman, Aarón M.; Johnston, H. Richard; Monfeuga, Thomas; McDonald McGinn, Donna M.; Gur, Raquel E.; Morrow, Bernice E.; Swillen, Ann; Vorstman, Jacob A. S.; Bearden, Carrie E.; Chow, Eva W. C.; van den Bree, Marianne; Emanuel, Beverly S.; Vermeesch, Joris R.; Warren, Stephen T.; Owen, Michael J.; Chopra, Pankaj; Cutler, David J.; Duncan, Richard; Kotlar, Alex V.; Mulle, Jennifer G.; Voss, Anna J.; Zwick, Michael E.; Diacou, Alexander; Golden, Aaron; Guo, Tingwei; Lin, Jhih Rong; Wang, Tao; Zhang, Zhengdong; Zhao, Yingjie; Marshall, Christian; Merico, Daniele; Jin, Andrea; Lilley, Brenna; Salmons, Harold I.; Oanh, Tran; Pardinas, Antonio; Walters, James T. R.; Demaerel, Wolfram; Boot, Erik; Butcher, Nancy J.; Costain, Gregory A.; Lowther, Chelsea; Evers, Rens; van Amelsvoort, Therese A. M. J.; van Duin, Esther; Vingerhoets, Claudia; Breckpot, Jeroen; Devriendt, Koen; Vergaelen, Elfi; Vogels, Annick; Crowley, T. Blaine; McGinn, Daniel E.; Moss, Edward M.; Sharkus, Robert J.; Unolt, Marta; Zackai, Elaine H.; Calkins, Mónica E.; Gallagher, Robert S.; Gur, Rubén C.; Tang, Sunny X.; Fritsch Montero, Rosemarie; Ornstein Letelier, Claudia; Repetto, Gabriela M.; Breetvelt, Elemi; Duijff, Sasja N.; Fiksinski, Ania; Moss, Hayley; Niarchou, Maria; Murphy, Kieran C.; Prasad, Sarah E.; Daly, Eileen M.; Gudbrandsen, María; Murphy, Clodagh M.; Murphy, Declan G.; Buzzanca, Antonio; Di Fabio, Fabio; Digilio, María C.; Pontillo, María; Marino, Bruno; Vicari, Stefano; Coleman, Karlene; Cubells, Joseph F.; Ousley, Opal Y.; Carmel, Miri; Gothelf, Doron; Mekori Domachevsky, Ehud; Michaelovsky, Elena; Weinberger, Ronnie; Eliez, Stephan; Sandini, Corrado; Schneider, Maude; Bena, Frederique Sloan; Antshel, Kevin M.; Fremont, Wanda; Kates, Wendy R.; Belzeaux, Raoul; Busa, Tiffany; Schoch, Kelly; Shashi, Vandana; Simon, Tony J.; Tassone, Flora; Arango, Celso; Suner, Damia H.; Raventos Simic, Jasna; Epstein, Michael P.; Williams, Nigel M.; Bassett, Anne S. (Nature, 2020)
      Schizophrenia occurs in about one in four individuals with 22q11.2 deletion syndrome (22q11.2DS). The aim of this International Brain and Behavior 22q11.2DS Consortium (IBBC) study was to identify genetic factors that ...
    • 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. ...