Søgeresultater - Kate Downes

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  1. 1
    Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders

    Strengths and limitations of high‐throughput sequencing for the diagnosis of inherited bleeding and platelet disorders af Fabienne Ver Donck, Kate Downes, Kathleen Freson

    Udgivet 2020
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  2. 2
    Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells

    Macropinocytic entry of isolated mitochondria in epidermal growth factor-activated human osteosarcoma cells af Dipali Patel, Joanna Rorbach, Kate Downes, Maciej Szukszto, Marcin Ł. Pękalski, Michal Minczuk

    Udgivet 2017
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  3. 3
    Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families

    Follow-up of 1715 SNPs from the Wellcome Trust Case Control Consortium genome-wide association study in type I diabetes families af Jonathan D. Cooper, Neil Walker, Deborah J. Smyth, Kate Downes, Barry Healy, John A. Todd

    Udgivet 2009
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  4. 4
    Reduced Expression of IFIH1 Is Protective for Type 1 Diabetes

    Reduced Expression of IFIH1 Is Protective for Type 1 Diabetes af Kate Downes, Marcin Ł. Pękalski, Karen L. Angus, Matthew P. Hardy, Sarah Nutland, Deborah J. Smyth, Neil Walker, Chris Wallace, John A. Todd

    Udgivet 2010
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  5. 5
    <i>FUT2</i> Nonsecretor Status Links Type 1 Diabetes Susceptibility and Resistance to Infection

    <i>FUT2</i> Nonsecretor Status Links Type 1 Diabetes Susceptibility and Resistance to Infection af Deborah J. Smyth, Jason D. Cooper, Joanna M. M. Howson, Clarke Pamela, Kate Downes, Trupti Mistry, Helen Stevens, Neil Walker, John A. Todd

    Udgivet 2011
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  6. 6
    How common are single gene mutations as a cause for lacunar stroke?

    How common are single gene mutations as a cause for lacunar stroke? af Rhea Tan, Matthew Traylor, Karyn Mégy, Daniel Duarte, Sri V. V. Deevi, Olga Shamardina, Rutendo Mapeta, Willem H. Ouwehand, Stefan Gräf, Kate Downes, Hugh S. Markus

    Udgivet 2019
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  7. 7
    Type 1 Diabetes-Associated <i>IL2RA</i> Variation Lowers IL-2 Signaling and Contributes to Diminished CD4+CD25+ Regulatory T Cell Function

    Type 1 Diabetes-Associated <i>IL2RA</i> Variation Lowers IL-2 Signaling and Contributes to Diminished CD4+CD25+ Regulatory T Cell Function af Garima Garg, J.R. Tyler, Jennie H. M. Yang, Antony J. Cutler, Kate Downes, Marcin Ł. Pękalski, Gwynneth L. Bell, Sarah Nutland, Mark Peakman, John A. Todd, Linda S. Wicker, Timothy Tree

    Udgivet 2012
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  8. 8
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci

    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci af Jason D. Cooper, Deborah J. Smyth, Adam M. Smiles, Vincent Plagnol, Neil Walker, James E. Allen, Kate Downes, Jeffrey C. Barrett, Barry Healy, Josyf C. Mychaleckyj, James H. Warram, John A. Todd

    Udgivet 2008
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  9. 9
    Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH

    Curated disease‐causing genes for bleeding, thrombotic, and platelet disorders: Communication from the SSC of the ISTH af Karyn Mégy, Kate Downes, Ilenia Simeoni, Loredana Bury, Joannella Morales, Rutendo Mapeta, Daniel B. Bellissimo, Paul F. Bray, Anne Goodeve, Paolo Gresele, Michele P. Lambert, Pieter H. Reitsma, Willem H. Ouwehand, Kathleen Freson

    Udgivet 2019
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  10. 10
    GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis

    GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thr... af Karyn Mégy, Kate Downes, Marie‐Christine Morel‐Kopp, José María Bastida, Shannon Brooks, Loredana Bury, Eva Leinøe, Keith Gomez, Neil V. Morgan, Maha Othman, Willem H. Ouwehand, Juliana Perez Botero, José Rivera, Harald Schulze, David‐Alexandre Trégouët, Kathleen Freson

    Udgivet 2021
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  11. 11
    Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing

    Genome-wide analysis of allelic expression imbalance in human primary cells by high-throughput transcriptome resequencing af Graham Heap, Jennie H. M. Yang, Kate Downes, Barry Healy, Karen A. Hunt, Nicholas Bockett, Lude Franke, P Dubois, Charles A. Mein, Richard Dobson, Thomas J. Albert, Matthew J. Rodesch, David Clayton, John A. Todd, David A. van Heel, Vincent Plagnol

    Udgivet 2009
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  12. 12
    Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease

    Shared and Distinct Genetic Variants in Type 1 Diabetes and Celiac Disease af Deborah J. Smyth, Vincent Plagnol, Neil Walker, Jason D. Cooper, Kate Downes, Jennie H. M. Yang, Joanna M. M. Howson, Helen Stevens, Ross McManus, Cisca Wijmenga, Graham Heap, P Dubois, David Clayton, Karen A. Hunt, David A. van Heel, John A. Todd

    Udgivet 2008
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  13. 13
    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

    Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia af Claire L. Shovlin, Ilenia Simeoni, Kate Downes, Zoe C. Frazer, Karyn Mégy, María E Bernabeu-Herrero, Abigail Shurr, Jennifer Brimley, Dilipkumar Patel, Loren Kell, Jonathan Stephens, Isobel G. Turbin, Micheala A. Aldred, Christopher J. Penkett, Willem H. Ouwehand, Luca Jovine, Ernest Turro

    Udgivet 2020
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  14. 14
    IL2RA Genetic Heterogeneity in Multiple Sclerosis and Type 1 Diabetes Susceptibility and Soluble Interleukin-2 Receptor Production

    IL2RA Genetic Heterogeneity in Multiple Sclerosis and Type 1 Diabetes Susceptibility and Soluble Interleukin-2 Receptor Production af Lisa M. Maier, Christopher E. Lowe, Jason D. Cooper, Kate Downes, David E. Anderson, Christopher Severson, Pamela Clark, Brian C. Healy, Neil Walker, Cristin Aubin, Jorge R. Oksenberg, Stephen L. Hauser, Alistair Compston, Stephen Sawcer, Philip L. De Jager, Linda S. Wicker, John A. Todd, David A. Hafler

    Udgivet 2009
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  15. 15
    Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource

    Cell-specific protein phenotypes for the autoimmune locus IL2RA using a genotype-selectable human bioresource af Calliope A. Dendrou, Vincent Plagnol, Erik Fung, Jennie H. M. Yang, Kate Downes, Jason D. Cooper, Sarah Nutland, Gillian Coleman, Matthew Himsworth, Matthew P. Hardy, Oliver S. Burren, Barry Healy, Neil Walker, Kerstin Koch, Willem H. Ouwehand, John R. Bradley, Nicholas J. Wareham, John A. Todd, Linda S. Wicker

    Udgivet 2009
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  16. 16
    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting

    GNE variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting af Shoshana Revel‐Vilk, Ela Shai, Ernest Turro, Nivin Jahshan, Esti Hi-Am, Galia Spectre, Hagit Daum, Yossef Kalish, Karina Althaus, Andreas Greinacher, Chaim Kaplinsky, Shai Izraeli, Rutendo Mapeta, Sri V. V. Deevi, Danuta Jarocha, Willem H. Ouwehand, Kate Downes, Mortimer Poncz, David Varon, Michele P. Lambert

    Udgivet 2018
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  17. 17
    Postthymic Expansion in Human CD4 Naive T Cells Defined by Expression of Functional High-Affinity IL-2 Receptors

    Postthymic Expansion in Human CD4 Naive T Cells Defined by Expression of Functional High-Affinity IL-2 Receptors af Marcin Ł. Pękalski, Ricardo C. Ferreira, Richard Coulson, Antony J. Cutler, Hui Guo, Deborah J. Smyth, Kate Downes, Calliope A. Dendrou, Xaquín Castro Dopico, Laura Esposito, Gillian Coleman, Helen Stevens, Sarah Nutland, Neil Walker, Catherine Guy, David B. Dunger, Chris Wallace, Timothy Tree, John A. Todd, Linda S. Wicker

    Udgivet 2013
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  18. 18
    Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems

    Distinct Trends of DNA Methylation Patterning in the Innate and Adaptive Immune Systems af Ronald P. Schuyler, Angelika Merkel, Emanuele Raineri, Lucia Altucci, Edo Vellenga, Joost H.A. Martens, Farzin Pourfarzad, Taco W. Kuijpers, Frances Burden, Samantha Farrow, Kate Downes, Willem H. Ouwehand, Laura Clarke, Avik Datta, Ernesto Lowy, Paul Flicek, Mattia Frontini, Hendrik G. Stunnenberg, José I. Martı́n-Subero, Marta Gut, Simon Heath

    Udgivet 2016
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  19. 19
    Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding

    Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding af Sarah K. Westbury, Matthias Canault, Daniel Greene, Emilsé Bermejo, Katharine Hanlon, Michele P. Lambert, Carolyn M. Millar, Paquita Nurden, Samya Obaji, Shoshana Revel‐Vilk, Chris Van Geet, Kate Downes, Sofia Papadia, Salih Tuna, Christopher D. Watt, Kathleen Freson, Michael Laffan, Willem H. Ouwehand, Marie‐Christine Alessi, Ernest Turro, Andrew Mumford

    Udgivet 2017
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  20. 20
    A Mutation in the Thyroid Hormone Receptor Alpha Gene

    A Mutation in the Thyroid Hormone Receptor Alpha Gene af Elena G. Bochukova, Nadia Schoenmakers, Maura Agostini, Erik Schoenmakers, Odelia Rajanayagam, Julia M. Keogh, Elana Henning, Jana Reinemund, Evelien Gevers, Margarita Sarri, Kate Downes, Amaka C Offiah, Assunta Albanese, David Halsall, John W. R. Schwabe, Murray Bain, Keith Lindley, Francesco Muntoni, Faraneh Vargha‐Khadem, Mehul Dattani, I. Sadaf Farooqi, Mark Gurnell, Krishna Chatterjee

    Udgivet 2011
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