检索结果 - David A. Dyment

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  1. 1
    Multiple sclerosis in stepsiblings: recurrence risk and ascertainment

    Multiple sclerosis in stepsiblings: recurrence risk and ascertainment 由 David A. Dyment

    出版 2006
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  2. 2
    Genetics of multiple sclerosis

    Genetics of multiple sclerosis 由 David A. Dyment, George C. Ebers, A. Dessa Sadovnick

    出版 2004
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  3. 3
    Epilepsy genetics: Current knowledge, applications, and future directions

    Epilepsy genetics: Current knowledge, applications, and future directions 由 Kenneth A. Myers, Devon L. Johnstone, David A. Dyment

    出版 2018
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  4. 4
    Twin concordance and sibling recurrence rates in multiple sclerosis

    Twin concordance and sibling recurrence rates in multiple sclerosis 由 Cristen J. Willer, David A. Dyment, Neil Risch, A. Dessa Sadovnick, George C. Ebers

    出版 2003
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  5. 5
    Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

    Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature 由 Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment, Hussein Daoud

    出版 2016
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  6. 6
    Effect of immigration on multiple sclerosis sex ratio in Canada: the Canadian Collaborative Study

    Effect of immigration on multiple sclerosis sex ratio in Canada: the Canadian Collaborative Study 由 S-M. Orton, S. V. Ramagopalan, Denise Brocklebank, Blanca Herrera, David A. Dyment, Irene M. Yee, A. Dessa Sadovnick, George C. Ebers

    出版 2009
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  7. 7
    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery

    Care4Rare Canada: Outcomes from a decade of network science for rare disease gene discovery 由 Kym M. Boycott, Taila Hartley, Kristin D. Kernohan, David A. Dyment, Heather Howley, A. Micheil Innes, François Bernier, Michael Brudno

    出版 2022
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  8. 8
    Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance

    Complex interactions among MHC haplotypes in multiple sclerosis: susceptibility and resistance 由 David A. Dyment, Blanca Herrera, M. Zameel Cader, Cristen J. Willer, Matthew R. Lincoln, A. Dessa Sadovnick, Neil Risch, George C. Ebers

    出版 2005
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  9. 9
    HLA class I alleles tag <i>HLA-DRB1</i> * <i>1501</i> haplotypes for differential risk in multiple sclerosis susceptibility

    HLA class I alleles tag <i>HLA-DRB1</i> * <i>1501</i> haplotypes for differential risk in multiple sclerosis susceptibility 由 Michael J. Chao, Martin Barnardo, Matthew R. Lincoln, Sreeram V. Ramagopalan, Blanca Herrera, David A. Dyment, Alexandre Montpetit, A. Dessa Sadovnick, Julian C. Knight, George C. Ebers

    出版 2008
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  10. 10
    Epistasis among<i>HLA-DRB1, HLA-DQA1,</i>and<i>HLA-DQB1</i>loci determines multiple sclerosis susceptibility

    Epistasis among<i>HLA-DRB1, HLA-DQA1,</i>and<i>HLA-DQB1</i>loci determines multiple sclerosis susceptibility 由 Matthew R. Lincoln, Sreeram V. Ramagopalan, Michael J. Chao, Blanca Herrera, Gabriele C. DeLuca, Sarah-Michelle Orton, David A. Dyment, A. Dessa Sadovnick, George C. Ebers

    出版 2009
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  11. 11
    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy

    Homozygous mutations in<i>MFN2</i>cause multiple symmetric lipomatosis associated with neuropathy 由 Sarah L. Sawyer, Andy Cheuk‐Him Ng, A. Micheil Innes, Justin D. Wagner, David A. Dyment, Martine Tétreault, Jacek Majewski, Kym M. Boycott, Robert A. Screaton, Garth A. Nicholson

    出版 2015
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  12. 12
    Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype

    Biallelic Mutations in <i>BRCA1</i> Cause a New Fanconi Anemia Subtype 由 Sarah L. Sawyer, Lei Tian, Marketta Kähkönen, Jeremy Schwartzentruber, Martin Kircher, Jacek Majewski, David A. Dyment, A. Micheil Innes, Kym M. Boycott, Lisa A. Moreau, Jukka S. Moilanen, Roger A. Greenberg

    出版 2014
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  13. 13
    A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis

    A predominant role for the HLA class II region in the association of the MHC region with multiple sclerosis 由 Matthew R. Lincoln, Alexandre Montpetit, M. Zameel Cader, Janna Saarela, David A. Dyment, Milvi Tiislar, Vincent Ferretti, Pentti J. Tienari, A. Dessa Sadovnick, Leena Peltonen, George C. Ebers, Thomas J. Hudson

    出版 2005
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  14. 14
    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis

    Identification of Novel Mutations Confirms<i>Pde4d</i>as a Major Gene Causing Acrodysostosis 由 Danielle C. Lynch, David A. Dyment, Lijia Huang, Sarah M. Nikkel, Didier Lacombe, Philippe M. Campeau, Brendan Lee, Carlos A. Bacino, Jacques L. Michaud, François Bernier, FORGE Canada Consortium, Jillian S. Parboosingh, A. Micheil Innes

    出版 2012
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  15. 15
    Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D

    Expression of the Multiple Sclerosis-Associated MHC Class II Allele HLA-DRB1*1501 Is Regulated by Vitamin D 由 Sreeram V Ramagopalan, Narelle Maugeri, Lahiru Handunnetthi, Matthew R. Lincoln, Sarah-Michelle Orton, David A. Dyment, Gabriele C. DeLuca, Blanca Herrera, Michael J. Chao, A. Dessa Sadovnick, George C. Ebers, Julian C. Knight

    出版 2009
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  16. 16
    An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the <i>HLA-DRB1</i> locus

    An extremes of outcome strategy provides evidence that multiple sclerosis severity is determined by alleles at the <i>HLA-DRB1</i> locus 由 Gabriele C. DeLuca, S. V. Ramagopalan, Blanca Herrera, David A. Dyment, Matthew R. Lincoln, Alexandre Montpetit, Maura Pugliatti, Martin Barnardo, Neil Risch, A. Dessa Sadovnick, Melody Chao, Stefano Sotgiu, Thomas J. Hudson, George C. Ebers

    出版 2007
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  17. 17
    De novo substitutions of TRPM3 cause intellectual disability and epilepsy

    De novo substitutions of TRPM3 cause intellectual disability and epilepsy 由 David A. Dyment, Paulien A. Terhal, Cecilie F. Rustad, Kristian Tveten, Christopher Griffith, Parul Jayakar, Marwan Shinawi, Sara Ellingwood, Rosemarie Smith, Koen L.I. van Gassen, Kirsty McWalter, A. Micheil Innes, Matthew A. Lines

    出版 2019
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  18. 18
    Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the <i>TYK2</i> gene

    Exome sequencing identifies a novel multiple sclerosis susceptibility variant in the <i>TYK2</i> gene 由 David A. Dyment, M. Zameel Cader, Michael J. Chao, Matthew R. Lincoln, Katie Morrison, Giulio Disanto, Julia M. Morahan, Gabriele C. DeLuca, A. Dessa Sadovnick, Pierre Lepage, Alexandre Montpetit, George C. Ebers, Sreeram V. Ramagopalan

    出版 2012
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  19. 19
    BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations

    BCL11A deletions result in fetal hemoglobin persistence and neurodevelopmental alterations 由 Anindita Basak, Miroslava Hančárová, Jacob C. Ulirsch, Tuğçe B. Balcı, Marie Trková, Michal Pelisek, Markéta Vlčková, Kateřina Mužíková, Jaroslav Čermák, Jan Trka, David A. Dyment, Stuart H. Orkin, Mark J. Daly, Zdeněk Sedláček, Vijay G. Sankaran

    出版 2015
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  20. 20
    DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

    DNM1L-related mitochondrial fission defect presenting as refractory epilepsy 由 Jason Vanstone, Amanda M Smith, Skye McBride, Thierry Naas, Martin Holčı́k, Ghadi Antoun, Mary‐Ellen Harper, Jean Michaud, Erick Sell, Pranesh Chakraborty, Martine Tétreault, Jacek Majewski, Stephen Baird, Kym M. Boycott, David A. Dyment, Alex MacKenzie, Matthew A. Lines

    出版 2015
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