The impact of concurrent X chromosome anomalies on diagnosis and bleeding phenotype in children with hemophilia: A single‐institution case series

Autor: Elizabeth Soffer, Karlene Coleman, Glaivy Batsuli

Publikováno v: Pediatric Blood & Cancer. 70

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e3ff79d151d484ef578e0643c9ddc124
https://doi.org/10.1002/pbc.30400

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

Examining the Overlap between Autism Spectrum Disorder and 22q11.2 Deletion Syndrome

Autor: Samuel Fernandez-Carriba, Karlene Coleman, David W. Evans, Andrew Evans, Opal Y. Ousley, Joseph F. Cubells, Kimberly Rockers, Erica L. Smearman, Michael J. Morrier

Publikováno v: International Journal of Molecular Sciences; Volume 18; Issue 5; Pages: 1071
International Journal of Molecular Sciences, Vol 18, Iss 5, p 1071 (2017)
International Journal of Molecular Sciences

22q11.2 deletion syndrome (22q11.2DS) is a genomic disorder reported to associate with autism spectrum disorders (ASDs) in 15–50% of cases; however, others suggest that individuals with 22q11.2DS present psychiatric or behavioral features associate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfbbd61b5b1e559ce12d9a82f4508d23

Axis I psychiatric diagnoses in adolescents and young adults with 22q11 deletion syndrome

Autor: Erica L. Smearman, Joseph F. Cubells, Elaine F. Walker, Kimberly Rockers, Samuel Fernandez-Carriba, Opal Y. Ousley, Karlene Coleman

Publikováno v: European Psychiatry. 28:417-422

Background22q11.2 deletion syndrome (22q11DS) associates with schizophrenia spectrum disorders (SSDs), autism spectrum disorders (ASDs), and other psychiatric disorders, but co-occurrence of diagnoses are not well described.MethodsWe evaluated the co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5700eaf61ee1d7b92e4c64e5cf30051b
https://doi.org/10.1016/j.eurpsy.2013.06.002

Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

Autor: Anne S. Bassett, Marcella Devoto, Nicole Philip, Stephan Eliez, Ann Swillen, Deanne Taylor, Carrie E. Bearden, Koen Devriendt, Molly B. Sheridan, Beverly S. Emanuel, Elizabeth Goldmuntz, Silvia E. Racedo, Maria Cristina Digilio, Michael Xie, Elaine H. Zackai, Bruno Dallapiccola, Jacob A. S. Vorstman, Bernice E. Morrow, Karlene Coleman, Amy E. Roberts, Bruno Marino, Tony J. Simon, Jeroen Breckpot, Elisabeth E. Mlynarski, Eva W.C. Chow, Doron Gothelf, Donna M. McDonald-McGinn, Tingwei Guo, Małgorzata Piotrowicz, Damian Heine Suñer, Wendy R. Kates

Publikováno v: Human genetics, vol 135, iss 3
Human Genetics, Vol. 135, No 3 (2016) pp. 273-285
Mlynarski, EE; Xie, M; Taylor, D; Sheridan, MB; Guo, T; Racedo, SE; et al.(2016). Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Human Genetics, 135(3), 273-285. doi: 10.1007/s00439-015-1623-9. UC Davis: Retrieved from: http://www.escholarship.org/uc/item/49g9k7pj

© 2016, Springer-Verlag Berlin Heidelberg. The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variabl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30205f5fd91172f1e023fd6b4058f25c
https://escholarship.org/uc/item/49g9k7pj