Resultats de la cerca - Anath C. Lionel

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  1. 1
    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome

    Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome per Anne S. Bassett, Christian R. Marshall, Anath C. Lionel, Eva W.C. Chow, Stephen W. Scherer

    Publicat 2008
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  2. 2
    1q21.1 Microduplication expression in adults

    1q21.1 Microduplication expression in adults per Alessia Dolcetti, Candice K. Silversides, Christian R. Marshall, Anath C. Lionel, Dimitri J. Stavropoulos, Stephen W. Scherer, Anne S. Bassett

    Publicat 2012
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  3. 3
    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes

    15q11.2 Duplication Encompassing Only the<i>UBE3A</i>Gene Is Associated with Developmental Delay and Neuropsychiatric Phenotypes per Abdul Noor, Lucie Dupuis, Kirti Mittal, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Tracy Stockley, John B. Vincent, Roberto Mendoza‐Londono, Dimitri J. Stavropoulos

    Publicat 2015
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  4. 4
    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism

    Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism per Hyun Ji Noh, Chris P. Ponting, Hannah Boulding, Stephen Meader, Catalina Betancur, Joseph D. Buxbaum, Dalila Pinto, Christian R. Marshall, Anath C. Lionel, Stephen W. Scherer, Caleb Webber

    Publicat 2013
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  5. 5
    Patient-Reported Outcome Measures in Cancer Care

    Patient-Reported Outcome Measures in Cancer Care per Amaris Balitsky, Daniel Rayner, Joanne Britto, Anath C. Lionel, Lydia Ginsberg, Wanjae Cho, Ann Mary Wilfred, Huda Sardar, Nathan Cantor, Hira Mian, Mark N. Levine, Gordon H Guyatt

    Publicat 2024
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  6. 6
    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways

    Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways per Candice K. Silversides, Anath C. Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy J. Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Publicat 2012
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  7. 7
    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature

    Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature per Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett

    Publicat 2014
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  8. 8
    A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder

    A Discovery Resource of Rare Copy Number Variations in Individuals with Autism Spectrum Disorder per Aparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, John Wei, Anath C. Lionel, Daisuke Sato, Jessica Rickaby, Chao Lu, Peter Szatmari, Wendy Roberts, Bridget A. Fernandez, Christian R. Marshall, Eli Hatchwell, Peggy S. Eis, Stephen W. Scherer

    Publicat 2012
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  9. 9
    Copy number variation in Han Chinese individuals with autism spectrum disorder

    Copy number variation in Han Chinese individuals with autism spectrum disorder per Matthew J. Gazzellone, Xue Zhou, Anath C. Lionel, Mohammed Uddin, Bhooma Thiruvahindrapuram, Shuang Liang, Caihong Sun, Jia Wang, Mingyang Zou, Kristiina Tammimies, Susan Walker, Thanuja Selvanayagam, John Wei, Zhuozhi Wang, Lijie Wu, Stephen W. Scherer

    Publicat 2014
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  10. 10
    Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity

    Single cell-derived clonal analysis of human glioblastoma links functional and genomic heterogeneity per Mona Meyer, Jüri Reimand, Xiaoyang Lan, Renee Head, Xueming Zhu, Michelle Kushida, Jane Bayani, Jessica C. Pressey, Anath C. Lionel, Ian D. Clarke, Michael D. Cusimano, Jeremy A. Squire, Stephen W. Scherer, Mark Bernstein, Melanie A. Woodin, Gary D. Bader, Peter B. Dirks

    Publicat 2015
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  11. 11
    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems

    CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy and neurobehavioural problems per Sébastien Chénier, Grace Yoon, Bob Argiropoulos, Julie Lauzon, Rachel Laframboise, Joo Wook Ahn, Caroline Mackie Ogilvie, Anath C. Lionel, Christian R. Marshall, Andrea K. Vaags, Bita Hashemi, Karine Boisvert, Géraldine Mathonnet, Frédérique Tihy, Joyce So, Stephen W. Scherer, Emmanuelle Lemyre, Dimitri J. Stavropoulos

    Publicat 2014
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  12. 12
    SINGLE CELL DERIVED CLONAL ANALYSIS OF HUMAN GLIOBLASTOMA LINKS FUNCTIONAL AND GENOMIC HETEROGENEITY

    SINGLE CELL DERIVED CLONAL ANALYSIS OF HUMAN GLIOBLASTOMA LINKS FUNCTIONAL AND GENOMIC HETEROGENEITY per Peter B. Dirks, M D Meyer, Jüri Reimand, Xiaoyang Lan, Renee Head, Xiaoping Zhu, Michelle Kushida, Jane Bayani, Jessica C. Pressey, Anath C. Lionel, Ian D. Clarke, Michael D. Cusimano, Jeremy A. Squire, Stephen W. Scherer, Mark Bernstein, Melanie A. Woodin, Gary D. Bader

    Publicat 2014
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  13. 13
    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

    Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants per Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tomas Fitzgerald, Anath C. Lionel, Bhooma Thiruvahindrapuram, Jeffrey R. MacDonald, Ryan E. Mills, Aparna Prasad, Kristin Noonan, Susan Gribble, Elena Prigmore, Patricia K. Donahoe, Richard S. Smith, Ji Hyeon Park, Matthew E. Hurles, Nigel P. Carter, Charles Lee, Stephen W. Scherer, Lars Feuk

    Publicat 2011
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  14. 14
    Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

    Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons per Éric Deneault, Sean H. White, Deivid C. Rodrigues, P. Joel Ross, Muhammad Faheem, Kirill Zaslavsky, Zhuozhi Wang, Roumiana Alexandrova, Giovanna Pellecchia, Wei Wei, Alina Piekna, Gaganjot Kaur, Jennifer Howe, Vickie Kwan, Bhooma Thiruvahindrapuram, Susan Walker, Anath C. Lionel, Peter Pasceri, Daniele Merico, Ryan K. C. Yuen, Karun K. Singh, James Ellis, Stephen W. Scherer

    Publicat 2018
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  15. 15
    A high-resolution copy-number variation resource for clinical and population genetics

    A high-resolution copy-number variation resource for clinical and population genetics per Mohammed Uddin, Bhooma Thiruvahindrapuram, Susan Walker, Zhuozhi Wang, Pingzhao Hu, Sylvia Lamoureux, John Wei, Jeffrey R. MacDonald, Giovanna Pellecchia, Chao Lu, Anath C. Lionel, Matthew J. Gazzellone, John McLaughlin, Catherine Brown, Irene L. Andrulis, Julia A. Knight, Jo-Anne Herbrick, Richard F. Wintle, Peter N. Ray, Dimitri J. Stavropoulos, Christian R. Marshall, Stephen W. Scherer

    Publicat 2014
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  16. 16
    Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

    Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder per Andrea K. Vaags, Anath C. Lionel, Daisuke Sato, McKinsey L. Goodenberger, Quinn Stein, Sarah Curran, Caroline Mackie Ogilvie, Joo Wook Ahn, Irene Drmic, Lili Senman, Christina Chrysler, Ann Thompson, Carolyn Russell, Aparna Prasad, Susan Walker, Dalila Pinto, Christian R. Marshall, Dimitri J. Stavropoulos, Lonnie Zwaigenbaum, Bridget A. Fernandez, Éric Fombonne, Patrick Bolton, David Collier, Jennelle C. Hodge, Wendy Roberts, Peter Szatmari, Stephen W. Scherer

    Publicat 2011
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  17. 17
    Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease

    Rare Copy Number Variants Contribute to Congenital Left-Sided Heart Disease per Marc‐Phillip Hitz, Louis-Philippe Lemieux-Perreault, Christian R. Marshall, Yassamin Feroz-Zada, Robbie Davies, Shi Wei Yang, Anath C. Lionel, Guylaine D’Amours, Emmanuelle Lemyre, Rebecca Cullum, Jean‐Luc Bigras, Maryse Thibeault, Philippe Chétaille, Alexandre Montpetit, Paul Khairy, Bert Overduin, Sabine Klaassen, Pamela A. Hoodless, Philip Awadalla, Julie Hussin, Youssef Idaghdour, Mona Nemer, Alexandre F.R. Stewart, Cornelius F. Boerkoel, Stephen W. Scherer, Andréa Richter, Marie‐Pierre Dubé, Grégor Andelfinger

    Publicat 2012
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  18. 18
    SHANK1 Deletions in Males with Autism Spectrum Disorder

    SHANK1 Deletions in Males with Autism Spectrum Disorder per Daisuke Sato, Anath C. Lionel, Claire S. Leblond, Aparna Prasad, Dalila Pinto, Susan Walker, Irene O’Connor, Carolyn Russell, Irene Drmic, Fadi F. Hamdan, Jacques L. Michaud, Volker Endris, Ralph Roeth, Richard Delorme, Guillaume Huguet, Marion Leboyer, Maria Råstam, Christopher Gillberg, Mark Lathrop, Dimitri J. Stavropoulos, Evdokia Anagnostou, Rosanna Weksberg, Éric Fombonne, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Gudrun Rappold, Christian R. Marshall, Thomas Bourgeron, Peter Szatmari, Stephen W. Scherer

    Publicat 2012
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  19. 19
    Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

    Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures per Anath C. Lionel, Andrea K. Vaags, Daisuke Sato, Matthew J. Gazzellone, Elyse Mitchell, Hongyang Chen, Gregory Costain, Susan Walker, Gerald Egger, Bhooma Thiruvahindrapuram, Daniele Merico, Aparna Prasad, Evdokia Anagnostou, Éric Fombonne, Lonnie Zwaigenbaum, Wendy Roberts, Peter Szatmari, Bridget A. Fernandez, Lyudmila Georgieva, Linda M. Brzustowicz, Katharina M. Roetzer, Wolfgang Kaschnitz, John B. Vincent, Christian Windpassinger, Christian R. Marshall, Rosario Rich Trifiletti, Salman Kirmani, George Kirov, Erwin Petek, Jennelle C. Hodge, Anne S. Bassett, Stephen W. Scherer

    Publicat 2013
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  20. 20
    Structural Variation of Chromosomes in Autism Spectrum Disorder

    Structural Variation of Chromosomes in Autism Spectrum Disorder per Christian R. Marshall, Abdul Noor, John B. Vincent, Anath C. Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren, Bhooma Thiruvahindrapduram, Andreas Fiebig, Stefan Schreiber, Jan M. Friedman, Cees Ketelaars, Yvonne J. Vos, Can Fıçıcıoğlu, Susan J. Kirkpatrick, Rob Nicolson, Leon Sloman, Anne Summers, Clare Gibbons, Ahmad S. Teebi, David Chitayat, Rosanna Weksberg, Ann Thompson, Cathy Vardy, Vicki Crosbie, Sandra Luscombe, Rebecca Baatjes, Lonnie Zwaigenbaum, Wendy Roberts, Bridget A. Fernandez, Peter Szatmari, Stephen W. Scherer

    Publicat 2008
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