Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Eva W C, Chow"'
Autor:
Yingjie Zhao, Yujue Wang, Lijie Shi, Donna M. McDonald-McGinn, T. Blaine Crowley, Daniel E. McGinn, Oanh T. Tran, Daniella Miller, Jhih-Rong Lin, Elaine Zackai, H. Richard Johnston, Eva W. C. Chow, Jacob A. S. Vorstman, Claudia Vingerhoets, Therese van Amelsvoort, Doron Gothelf, Ann Swillen, Jeroen Breckpot, Joris R. Vermeesch, Stephan Eliez, Maude Schneider, Marianne B. M. van den Bree, Michael J. Owen, Wendy R. Kates, Gabriela M. Repetto, Vandana Shashi, Kelly Schoch, Carrie E. Bearden, M. Cristina Digilio, Marta Unolt, Carolina Putotto, Bruno Marino, Maria Pontillo, Marco Armando, Stefano Vicari, Kathleen Angkustsiri, Linda Campbell, Tiffany Busa, Damian Heine-Suñer, Kieran C. Murphy, Declan Murphy, Sixto García-Miñaúr, Luis Fernández, International 22q11.2 Brain and Behavior Consortium (IBBC), Zhengdong D. Zhang, Elizabeth Goldmuntz, Raquel E. Gur, Beverly S. Emanuel, Deyou Zheng, Christian R. Marshall, Anne S. Bassett, Tao Wang, Bernice E. Morrow
Publikováno v:
npj Genomic Medicine, Vol 8, Iss 1, Pp 1-15 (2023)
Abstract Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate i
Externí odkaz:
https://doaj.org/article/8c4a618d8f784a9c9f58db40b2e0cf57
Autor:
Daniel E. McGinn, T. Blaine Crowley, Tracy Heung, Oanh Tran, Edward Moss, Elaine H. Zackai, Beverly S. Emanuel, Eva W. C. Chow, Bernice E. Morrow, Ann Swillen, Anne S. Bassett, Donna M. McDonald-McGinn
Publikováno v:
Genes; Volume 13; Issue 10; Pages: 1800
Learning and intellectual disabilities are hallmark features of 22q11.2 deletion syndrome. Data are limited, however, regarding influences on full-scale IQ (FSIQ). Here, we investigated possible 22q11.2 deletion parent-of-origin effects. In 535 indiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6468bab070fc9796f70a3930443f19d3
https://lirias.kuleuven.be/handle/20.500.12942/706653
https://lirias.kuleuven.be/handle/20.500.12942/706653
Autor:
Nancy J Butcher, Daniele Merico, Mehdi Zarrei, Lucas Ogura, Christian R Marshall, Eva W C Chow, Anthony E Lang, Stephen W Scherer, Anne S Bassett
Publikováno v:
PLoS ONE, Vol 12, Iss 4, p e0173944 (2017)
To investigate disease risk mechanisms of early-onset Parkinson's disease (PD) associated with the recurrent 22q11.2 deletion, a genetic risk factor for early-onset PD.In a proof-of-principle study, we used whole-genome sequencing (WGS) to investigat
Externí odkaz:
https://doaj.org/article/43ac587b2c854714b561bb6561f988ae
Autor:
Sarah L, Malecki, Spencer, Van Mil, Justin, Graffi, Elemi, Breetvelt, Maria, Corral, Erik, Boot, Eva W C, Chow, Marcos, Sanches, Amol A, Verma, Anne S, Bassett
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)
Multimorbidity is increasing in younger adults but is understudied in this population. We used 22q11.2 deletion syndrome (22q11.2DS) as a genetic model to investigate multimorbidity in young to middle-aged adults.Using the Anatomical Therapeutic Chem
Autor:
Butcher NJ; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Fung WL; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Fitzpatrick L; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Guna A; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Andrade DM; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Lang AE; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Chow EW; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada., Bassett AS; Nancy J. Butcher, MSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Institute of Medical Science, University of Toronto, Toronto; Wai Lun Alan Fung, MD, ScD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto General Research Institute, University Health Network, Toronto, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome and Department of Psychiatry, University Health Network and Department of Psychiatry, University of Toronto, Toronto; Laura Fitzpatrick, Alina Guna, BSc, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; Danielle M. Andrade, MD, MSc, FRCPC, Division of Neurology, Department of Medicine, University of Toronto, Toronto; Anthony E. Lang, MD, FRCPC, Institute of Medical Science, University of Toronto, Division of Neurology, Department of Medicine, University of Toronto, Tanz Centre for Research in Neurodegenerative Diseases, Department of Medicine, University of Toronto, Toronto Western Hospital Research Institute, University Health Network and Edmond J. Safra Program in Parkinson's Disease, Toronto Western Hospital, Toronto; Eva W. C. Chow, MD, MPH, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health and Department of Psychiatry, University of Toronto, Toronto; Anne S. Bassett, MD, FRCPC, Clinical Genetics Research Program, Centre for Addiction and Mental Health, Institute of Medical Science, University of Toronto, Toronto General Research Institute, University Health Network, The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome, Department of Medicine and Department of Psychiatry, University Health Network, Department of Psychiatry, University of Toronto, Ontario, Canada.
Publikováno v:
The British journal of psychiatry : the journal of mental science [Br J Psychiatry] 2015 Jun; Vol. 206 (6), pp. 484-91. Date of Electronic Publication: 2015 Mar 05.