Resultados da pesquisa - Bridget A. Fernandez

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  1. 1
    Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach

    Syndromic autism spectrum disorders: moving from a clinically defined to a molecularly defined approach Por Bridget A. Fernandez, Stephen W. Scherer

    Publicado em 2017
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  2. 2
    The Newfoundland population: a unique resource for genetic investigation of complex diseases

    The Newfoundland population: a unique resource for genetic investigation of complex diseases Por Proton Rahman, Albert Jones, Joseph Curtis, Sylvia E. Bartlett, Lynette Peddle, Bridget A. Fernandez, Nelson B. Freimer

    Publicado em 2003
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  3. 3
    Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive<i>WNT1</i>mutations

    Variable brain phenotype primarily affects the brainstem and cerebellum in patients with osteogenesis imperfecta caused by recessive<i>WNT1</i>mutations Por Kimberly A. Aldinger, Nancy J. Mendelsohn, Brian HY Chung, Wenjuan Zhang, Daniel H. Cohn, Bridget A. Fernandez, Fowzan S. Alkuraya, William B. Dobyns, Cynthia J. Curry

    Publicado em 2015
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  4. 4
    Contribution of SHANK3 Mutations to Autism Spectrum Disorder

    Contribution of SHANK3 Mutations to Autism Spectrum Disorder Por Rainald Moessner, Christian R. Marshall, James S. Sutcliffe, Jennifer Skaug, Dalila Pinto, John B. Vincent, Lonnie Zwaigenbaum, Bridget A. Fernandez, Wendy Roberts, Peter Szatmari, Stephen W. Scherer

    Publicado em 2007
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  5. 5
    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1

    Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1 Por Terry‐Lynn Young, Elizabeth Ives, Edward Lynch, Richard Person, Sandra S. Snook, L MacLaren, Tracey Cater, Aliesha Griffin, Bridget A. Fernandez, M K Lee, Mary‐Claire King, T Cator

    Publicado em 2001
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  6. 6
    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion

    Cerebellar and posterior fossa malformations in patients with autism‐associated chromosome 22q13 terminal deletion Por Kimberly A. Aldinger, Jillene Kogan, Virginia Kimonis, Bridget A. Fernandez, Denise Horn, Eva Klopocki, Brian Hon‐Yin Chung, Annick Toutain, Rosanna Weksberg, Kathleen J. Millen, A. James Barkovich, William B. Dobyns

    Publicado em 2012
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  7. 7
    Autism spectrum disorder: advances in evidence-based practice

    Autism spectrum disorder: advances in evidence-based practice Por Evdokia Anagnostou, Lonnie Zwaigenbaum, Peter Szatmari, Éric Fombonne, Bridget A. Fernandez, Marc Woodbury‐Smith, Jessica Brian, Susan E. Bryson, Isabel M. Smith, Irene Drmic, Janet A. Buchanan, Wendy Roberts, Stephen W. Scherer

    Publicado em 2014
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  8. 8
    Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study

    Clinical and genetic epidemiology of Bardet-Biedl syndrome in Newfoundland: A 22-year prospective, population-based, cohort study Por Susan Moore, Jane S. Green, Yanli Fan, Ashvinder K. Bhogal, Elizabeth Dicks, Bridget A. Fernandez, Mark Stefanelli, Christopher Murphy, B. Cramer, John Dean, Philip L. Beales, Nicholas Katsanis, Anne S. Bassett, William S. Davidson, Patrick S. Parfrey

    Publicado em 2005
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  9. 9
    A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features

    A Newfoundland cohort of familial and sporadic idiopathic pulmonary fibrosis patients: clinical and genetic features Por Bridget A. Fernandez, George A Fox, Rick Bhatia, Eric Sala, Barbara Noble, Nash Denic, Dzintra Fernandez, Nigel Duguid, A. Dohey, Fady Kamel, Laura Edwards, Krista Mahoney, Susan Stuckless, Patrick S. Parfrey, Michael O. Woods

    Publicado em 2012
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  10. 10
    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

    Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome Por Marjolein H. Willemsen, Bridget A. Fernandez, Carlos A. Bacino, Erica H. Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema‐Raddatz, Stephen W. Scherer, Christian R. Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

    Publicado em 2009
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  11. 11
    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 Por 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

    Publicado em 2012
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  12. 12
    Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada

    Reduction in Neural-Tube Defects after Folic Acid Fortification in Canada Por Philippe De Wals, Fassiatou Tairou, Margot I. Van Allen, Soo-Hong Uh, R. Brian Lowry, Barbara Sibbald, Jane Evans, Michiel C. Van den Hof, Pamela Zimmer, Marian Crowley, Bridget A. Fernandez, Nora S. Lee, Theo Niyonsenga

    Publicado em 2007
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  13. 13
    WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta

    WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta Por Shawna M. Pyott, Thao Tran, Dru F. Leistritz, Melanie Pepin, Nancy J. Mendelsohn, Renee Temme, Bridget A. Fernandez, Solaf M. Elsayed, Ezzat Elsobky, I. C. Verma, Sreelata Nair, Emily H. Turner, Joshua D. Smith, Gail P. Jarvik, Peter H. Byers

    Publicado em 2013
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  14. 14
    Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

    Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder Por Bridget A. Fernandez, Wendy Roberts, Brian Hon‐Yin Chung, Rosanna Weksberg, M. Stephen Meyn, Peter Szatmari, A. M. Joseph-George, Seonaid Mackay, Kathy Whitten, Barbara Noble, Cathy Vardy, Victoria Crosbie, Sandra Luscombe, E.E. Tucker, Lesley Turner, Christian R. Marshall, Stephen W. Scherer

    Publicado em 2009
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  15. 15
    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome

    Haploinsufficiency of SF3B4, a Component of the Pre-mRNA Spliceosomal Complex, Causes Nager Syndrome Por François Bernier, Oana Caluseriu, Sarah Ng, Jeremy Schwartzentruber, Kati J. Buckingham, A. Micheil Innes, Ethylin Wang Jabs, Jeffrey W. Innis, Jane L. Schuette, Jerome L. Gorski, Peter H. Byers, Grégor Andelfinger, Victoria Mok Siu, Julie Lauzon, Bridget A. Fernandez, Margaret J. McMillin, Richard H. Scott, Hilary Racher, Jacek Majewski, Deborah A. Nickerson, Jay Shendure, Michael J. Bamshad, Jillian S. Parboosingh

    Publicado em 2012
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  16. 16
    FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

    FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project Por Chandree L. Beaulieu, Jacek Majewski, Jeremy Schwartzentruber, Mark E. Samuels, Bridget A. Fernandez, François Bernier, Michael Brudno, Bartha Maria Knoppers, Janet Marcadier, David A. Dyment, Shelin Adam, Dennis E. Bulman, Steven J.M. Jones, Denise Avard, Minh Thu Nguyen, François Rousseau, Christian R. Marshall, Richard F. Wintle, Yaoqing Shen, Stephen W. Scherer, Jan M. Friedman, Jacques L. Michaud, Kym M. Boycott

    Publicado em 2014
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  17. 17
    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

    The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists Por Kym M. Boycott, Taila Hartley, Shelin Adam, François Bernier, Karen Chong, Bridget A. Fernandez, Jan M. Friedman, Michael T. Geraghty, Stacey Hume, Bartha Maria Knoppers, Anne‐Marie Laberge, Jacek Majewski, Roberto Mendoza‐Londono, M. Stephen Meyn, Jacques L. Michaud, Tanya N. Nelson, Julie Richer, Bekim Sadiković, David Skidmore, Tracy Stockley, Sherry Taylor, Clara van Karnebeek, Ma’n H. Zawati, Julie Lauzon, Christine M. Armour

    Publicado em 2015
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  18. 18
    Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder

    Rare Deletions at the Neurexin 3 Locus in Autism Spectrum Disorder Por 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

    Publicado em 2011
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  19. 19
    SHANK1 Deletions in Males with Autism Spectrum Disorder

    SHANK1 Deletions in Males with Autism Spectrum Disorder Por 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

    Publicado em 2012
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  20. 20
    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 Por 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

    Publicado em 2013
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