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

Autor: Richard Duncan, Tao Wang, Carrie E. Bearden, David J. Cutler, Stephen T. Warren, Maria Pontillo, Robert Sean Gallagher, Elemi J. Breetvelt, Tingwei Guo, Nancy J. Butcher, Jennifer G. Mulle, Claudia Ornstein, Claudia Vingerhoets, Clodagh M. Murphy, Ehud Mekori-Domachevsky, Wendy R. Kates, Jacob A. S. Vorstman, Tracy Heung, Joris Vermeesch, Maria Gudbrandsen, Ann Swillen, H. Richard Johnston, Oanh Tran, Marco Armando, Joseph F. Cubells, Raoul Belzeaux, Jeroen Breckpot, Bruno Marino, Tony J. Simon, Harold I. Salmons, Maria Jalbrzikowski, Wanda Fremont, Anna J. Voss, Worrawat Engchuan, Opal Y. Ousley, Stefano Vicari, Jordi Rosell, Sixto García-Miñaur, Declan G. Murphy, Alexander Diacou, Ania Fiksinski, Abraham Weizman, Edward Moss, Stephan Eliez, Miri Carmel, Vandana Shashi, Anne S. Bassett, Ronnie Weinberger, Hayley Moss, Marianne Bernadette van den Bree, Kelly Schoch, Maude Schneider, Linda E. Campbell, Sasja N. Duijff, Eileen Daly, Annick Vogels, Stephen R. Hooper, David Fraguas, Sarah E. Prasad, Chelsea Lowther, Michael John Owen, Frédérique Béna, Gabriela M. Repetto, Eva W.C. Chow, Bernice E. Morrow, Robert J. Sharkus, Celso Arango, Christian R. Marshall, Jasna Raventos-Simic, Jaume Morey-Canyelles, Tiffany Busa, Andrea Jin, James T.R. Walters, Leila Kushan, Wolfram Demaerel, Monica E. Calkins, Jhih Rong Lin, Elaine H. Zackai, Esther D.A. van Duin, Antonio Buzzanca, Corrado Sandini, Kieran C. Murphy, Beverly S. Emanuel, Erik Boot, Maria Niarchou, Nigel Williams, Elfi Vergaelen, Maria Cristina Digilio, Daniele Merico, Karlene Coleman, Gregory A. Costain, Matthew S. Hestand, Peter Holmans, Michael E. Zwick, Michael P. Epstein, Damià H. Suñer, Yingjie Zhao, Marta Unolt, Kathryn McCabe, Aaron M. Holleman, Zhengdong Zhang, Rosemarie Fritsch, Alex V. Kotlar, Elena Michaelovsky, T. Blaine Crowley, Brenna Lilley, Sunny X. Tang, Rens Evers, Ruben C. Gur, Isabelle Cleynen, Flora Tassone, Nicole Philip, Kevin M. Antshel, Koen Devriendt, Antonio F. Pardiñas, Pankaj Chopra, Thomas Monfeuga, Fabio Di Fabio, Therese van Amelsvoort, Aaron Golden, Doron Gothelf, Donna M. McDonald-McGinn, Raquel E. Gur, Daniel E. McGinn

Publikováno v: Molecular Psychiatry
Molecular Psychiatry, Nature Publishing Group, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry, 2020, ⟨10.1038/s41380-020-0654-3⟩
Molecular Psychiatry (2020)
Molecular psychiatry
Molecular Psychiatry, 26(8), 4496-4510. Nature Publishing Group

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=doi_dedup___::a4c91788310dcf6c66ef3ac3973170b9
http://hdl.handle.net/20.500.12278/33344

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Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

Autor: Claudia Ornstein, Anne S. Bassett, Matthew S. Hestand, Bruno Marino, Kelly Schoch, Tony J. Simon, Therese van Amelsvoort, Doron Gothelf, Carrie E. Bearden, Elemi J. Breetvelt, Michael P. Epstein, Tiffany Busa, Robert J. Shprintzen, David Cutler, Tao Wang, Leila Kushan-Wells, Donna M. McDonald-McGinn, Raquel E. Gur, Hayley Moss, Esther D. A. van Duin, B Dallapiccola, Joris Vermeesch, Clodagh M. Murphy, Yingjie Zhao, Rens Evers, María Angeles de la Fuente Sanches, Ann Swillen, H. Richard Johnston, Maria Pontillo, Steve Warren, Guido Lattanzi, Michael E. Zwick, Jacob A. S. Vorstman, Jeroen Breckpot, Oanh Tran, Stylianos E. Antonarakis, Stefano Vicari, Andrea Jin, Alexander Diacou, Miri Carmel, Christian R. Marshall, Abraham Weizman, Bernice E. Morrow, Fadi I Musfee, Wendy R. Kates, Michael John Owen, Fabio Di Fabio, Marco Armando, Erik Boot, Claudia Vingerhoets, Elizabeth Goldmuntz, Massimo Biondi, Kieran C. Murphy, Nancy Butcher, Declan G. Murphy, Candice K. Silversides, Isabelle Cleynen, T. Blaine Crowley, Vandana Shashi, Linda E. Campbell, Elaine H. Zackai, Ronnie Weinberger, Sixto García-Miñaur, Marianne Bernadette van den Bree, Fernando García Algas, Damian Heine-Suñer, Tracy Heung, Daniel E. McGinn, Maude Schneider, Stephan Eliez, Marta Unolt, Stephen R. Hooper, Kathryn McCabe, A. J. Agopian, Tingwei Guo, Zhengdong Zhang, Rosemarie Fritsch, Luis Fernández, Beverly S. Emanuel, Elfi Vergaelen, Alejandra Laorden-Nieto, Flora Tassone, Gabriela M. Repetto, Laura E. Mitchell, Antonino Buzzanca, Elena Michaelovsky, M. Cristina Digilio, Nicole Philip

Publikováno v: American Journal of Human Genetics, 106(1), 26-40. Cell Press
Am J Hum Genet
American Journal of Human Genetics, Vol. 106, No 1 (2020) pp. 26-40
American journal of human genetics, vol 106, iss 1

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%-70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8700304c185800fa1b2e56de201d2874
https://cris.maastrichtuniversity.nl/en/publications/fcebc151-7a92-4dbe-8f36-bd15cb7462bb

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Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

Publikováno v: American Journal of Medical Genetics. A, Vol. 176, No 10 (2018) pp. 2172-2181
American Journal of Medical Genetics Part A, 176(10), 2172-2181. Wiley
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
American journal of medical genetics. Part A, vol 176, iss 10

The 22q11.2 deletion syndrome is caused by non-allelic homologous recombination events during meiosis between low copy repeats (LCR22) termed A, B, C, and D. Most patients have a typical LCR22A-D (AD) deletion of 3 million base pairs (Mb). In this re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c08da23afa70859c4fc6d6aa3b110d39
https://doi.org/10.1002/ajmg.a.40359

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

Autor: Wolfram Demaerel, Matthew S. Hestand, Elfi Vergaelen, Ann Swillen, Marcos López-Sánchez, Luis A. Pérez-Jurado, Donna M. McDonald-McGinn, Elaine Zackai, Beverly S. Emanuel, Bernice E. Morrow, Jeroen Breckpot, Koenraad Devriendt, Joris R. Vermeesch, Kevin Antshel, Celso Arango, Marco Armando, Anne Bassett, Carrie Bearden, Erik Boot, Marta Bravo-Sanchez, Elemi Breetvelt, Tiffany Busa, Nancy Butcher, Linda Campbell, Miri Carmel, Eva Chow, T. Blaine Crowley, Joseph Cubells, David Cutler, Maria Cristina Digilio, Sasja Duijff, Stephan Eliez, Beverly Emanuel, Michael Epstein, Rens Evers, Luis Fernandez Garcia-Moya, Ania Fiksinski, David Fraguas, Wanda Fremont, Rosemarie Fritsch, Sixto Garcia-Minaur, Aaron Golden, Doron Gothelf, Tingwei Guo, Ruben Gur, Raquel Gur, Damian Heine-Suner, Matthew Hestand, Stephen Hooper, Wendy Kates, Leila Kushan, Alejandra Laorden-Nieto, Johanna Maeder, Bruno Marino, Christian Marshall, Kathryn McCabe, Donna McDonald-McGinn, Elena Michaelovosky, Bernice Morrow, Edward Moss, Jennifer Mulle, Declan Murphy, Kieran Murphy, Clodagh Murphy, Maria Niarchou, Claudia Ornstein, Michael Owen, Nicole Philip, Gabriela Repetto, Maude Schneider, Vandana Shashi, Tony Simon, Flora Tassone, Marta Unolt, Therese van Amelsvoort, Marianne van den Bree, Esther Van Duin, Joris Vermeesch, Stefano Vicari, Claudia Vingerhoets, Jacob Vorstman, Steve Warren, Ronnie Weinberger, Omri Weisman, Abraham Weizman, Zhengdong Zhang, Michael Zwick

Publikováno v: The American Journal of Human Genetics. 101:616-622

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=doi_________::3c668c64c8777e7b474558524a21aed9
https://doi.org/10.1016/j.ajhg.2017.09.002

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

Publikováno v: The American Journal of Human Genetics. 103:457

(The American Journal of Human Genetics 101, 616–622; October 5, 2017) This article has been retracted at the request of the authors. In this article, we claimed the presence of nested inversion polymorphisms, spanning the LCR22-B/D or LCR22-C/D lo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d117da35c3a2f68c69992a1cff22be9a
https://doi.org/10.1016/j.ajhg.2018.08.011

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