Genetic contributors to risk of schizophrenia in the presence of a 22q11.2 deletion

Autor: Cleynen, Isabelle, Engchuan, Worrawat, Hestand, Matthew S, Heung, Tracy, Holleman, Aaron M, Johnston, H Richard, Monfeuga, Thomas, McDonald-McGinn, Donna M, Gur, Raquel E, Morrow, Bernice E, Swillen, Ann, Vorstman, Jacob AS, Bearden, Carrie E, Chow, Eva WC, 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, Tran, Oanh, Holmans, Peter, Pardinas, Antonio, Walters, James TR, Demaerel, Wolfram, Boot, Erik, Butcher, Nancy J, Costain, Gregory A, Lowther, Chelsea, Evers, Rens, van Amelsvoort, Therese AMJ, 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, Monica E, Gallagher, Robert S, Gur, Ruben C, Tang, Sunny X, Fritsch, Rosemarie, Ornstein, 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, Maria, Murphy, Clodagh M, Murphy, Declan G, Buzzanca, Antonio, Fabio, Fabio Di, Digilio, Maria C, Pontillo, Maria, Marino, Bruno, Vicari, Stefano, Coleman, Karlene, Cubells, Joseph F, Ousley, Opal Y, Carmel, Miri, Gothelf, Doron, Mekori-Domachevsky, Ehud, Michaelovsky, Elena, Weinberger, Ronnie, Weizman, Abraham, Kushan, Leila, Jalbrzikowski, Maria, Armando, Marco, Eliez, Stéphan, Sandini, Corrado, Schneider, Maude

Publikováno v: Molecular psychiatry, vol 26, iss 8

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 contribute to schizophrenia, in

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::32f66e4eba32686804f3949cd756407d
https://escholarship.org/uc/item/1wx189cs

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Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements

Autor: Demaerel, Wolfram, Hestand, Matthew S., Vergaelen, Elfi, Swillen, Ann, López-Sánchez, Marcos, Pérez-Jurado, Luis A., Mcdonald-Mcginn, Donna, Zackai, Elaine, Emanuel, Beverly, Morrow, Bernice E., Breckpot, Jeroen, Devriendt, Koenraad, Vermeesch, Joris, Antshel, Kevin, Arango, Celso, Armando, Marco, Bassett, Anne, Bearden, Carrie, Boot, Erik, Bravo-sanchez, Marta, Breetvelt, Elemi, Busa, Tiffany, Butcher, Nancy, Campbell, Linda, Carmel, Miri, Chow, Eva, Crowley, T. Blaine, Cubells, Joseph, Cutler, David, Digilio, Maria Cristina, Duijff, Sasja, Eliez, Stephan, Epstein, Michael, Evers, Rens, Fernandez Garcia-moya, Luis, Fiksinski, Ania, Fraguas, David, Fremont, Wanda, Fritsch, Rosemarie, Garcia-Minaur, Sixto, Golden, Aaron, Gothelf, Doron, Guo, Tingwei, Gur, Ruben, Murphy, Declan, Murphy, Kieran, Murphy, Clodagh, Van Amelsvoort, Therese

Publikováno v: American Journal of Human Genetics, 101(4), 616. Cell Press
Demaerel, W, Hestand, M S, Vergaelen, E, Swillen, A, López-Sánchez, M, Pérez-Jurado, L A, Mcdonald-Mcginn, D, Zackai, E, Emanuel, B, Morrow, B E, Breckpot, J, Devriendt, K, Vermeesch, J, Antshel, K, Arango, C, Armando, M, Bassett, A, Bearden, C, Boot, E, Bravo-sanchez, M, Breetvelt, E, Busa, T, Butcher, N, Campbell, L, Carmel, M, Chow, E, Crowley, T B, Cubells, J, Cutler, D, Demaerel, W, Digilio, M C, Duijff, S, Eliez, S, Emanuel, B, Epstein, M, Evers, R, Fernandez Garcia-moya, L, Fiksinski, A, Fraguas, D, Fremont, W, Fritsch, R, Garcia-Minaur, S, Golden, A, Gothelf, D, Guo, T, Gur, R, Murphy, D, Murphy, K & Murphy, C & Van Amelsvoort, T 2017, ' Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements ', American Journal of Human Genetics, vol. 101, no. 4, pp. 616-622 . https://doi.org/10.1016/j.ajhg.2017.09.002

Inversion polymorphisms between low-copy repeats (LCRs) might predispose chromosomes to meiotic non-allelic homologous recombination (NAHR) events and thus lead to genomic disorders. However, for the 22q11.2 deletion syndrome (22q11.2DS), the most co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::1917641e54d0303eb2e2da12e1ce08bb
https://dspace.library.uu.nl/handle/1874/359279

Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2.

Autor: Tingwei Guo, Diacou, Alexander, Hiroko Nomaru, McDonald-McGinn, Donna M., Hestand, Matthew, Demaerel, Wolfram, Liangtian Zhang, Yingjie Zhao, Ujueta, Francisco, Jidong Shan, Montagna, Cristina, Deyou Zheng, Crowley, Terrence B., Kushan-Wells, Leila, Bearden, Carrie E., Kates, Wendy R., Gothelf, Doron, Schneider, Maude, Eliez, Stephan, Breckpot, Jeroen

Publikováno v: Human Molecular Genetics; Apr2018, Vol. 27 Issue 7, p1150-1163, 14p