Søgeresultater - Kathleen Freson

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  1. 1
    Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with variable skewed X inactivation

    Different substitutions at residue D218 of the X-linked transcription factor GATA1 lead to altered clinical severity of macrothrombocytopenia and anemia and are associated with var... af Kathleen Freson

    Udgivet 2002
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  2. 2
    Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders

    Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders af L Corbeel, Kathleen Freson

    Udgivet 2008
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  3. 3
    High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders

    High‐throughput sequencing approaches for diagnosing hereditary bleeding and platelet disorders af Kathleen Freson, Ernest Turro

    Udgivet 2017
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  4. 4
    Inherited platelet disorders

    Inherited platelet disorders af Alan T. Nurden, Kathleen Freson, Uri Seligsohn

    Udgivet 2012
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  5. 5
    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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  6. 6
    Inherited platelet disorders: toward DNA-based diagnosis

    Inherited platelet disorders: toward DNA-based diagnosis af Claire Lentaigne, Kathleen Freson, Michael Laffan, Ernest Turro, Willem H. Ouwehand

    Udgivet 2016
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  7. 7
    A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1

    A novel mechanism of sustained platelet αIIbβ3 activation via PEAR1 af Alexandre Kauskot, Michela Di Michele, Serena Loyen, Kathleen Freson, Peter Verhamme, Marc Hoylaerts

    Udgivet 2012
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  8. 8
    DNA methylation in imprinted genes<scp><i>IGF2</i></scp>and<scp><i>GNASXL</i></scp>is associated with prenatal maternal stress

    DNA methylation in imprinted genes<scp><i>IGF2</i></scp>and<scp><i>GNASXL</i></scp>is associated with prenatal maternal stress af Elise Vangeel, Benedetta Izzi, Titia Hompes, Kristof Vansteelandt, Diether Lambrechts, Kathleen Freson, Stephan Claes

    Udgivet 2015
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  9. 9
    A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder

    A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder af Cédric Hermans, Christine Wittevrongel, Chantal Thys, Peter A. Smethurst, Chris Van Geet, Kathleen Freson

    Udgivet 2009
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  10. 10
    PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway

    PEAR1 attenuates megakaryopoiesis via control of the PI3K/PTEN pathway af Alexandre Kauskot, Christophe Vandenbriele, Sophie Louwette, Rik Gijsbers, Thomas Tousseyn, Kathleen Freson, Peter Verhamme, Marc Hoylaerts

    Udgivet 2013
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  11. 11
    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders

    Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders af Daniel Greene, Chantal Thys, Ian Berry, Joanna Jarvis, Els Ortibus, Andrew Mumford, Kathleen Freson, Ernest Turro

    Udgivet 2024
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  12. 12
    Review article: blood platelet number and function in chronic liver disease and cirrhosis

    Review article: blood platelet number and function in chronic liver disease and cirrhosis af Peter Witters, Kathleen Freson, Chris Verslype, K. Peerlinck, Marc Hoylaerts, Frederik Nevens, Chris Van Geet, David Cassiman

    Udgivet 2008
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  13. 13
    Allele-specific DNA methylation reinforces PEAR1 enhancer activity

    Allele-specific DNA methylation reinforces PEAR1 enhancer activity af Benedetta Izzi, Mariaelena Pistoni, Katrien Cludts, Pinar Akkor, Diether Lambrechts, Catherine M. Verfaillie, Peter Verhamme, Kathleen Freson, Marc Hoylaerts

    Udgivet 2016
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  14. 14
    The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure

    The TUBB1 Q43P functional polymorphism reduces the risk of cardiovascular disease in men by modulating platelet function and structure af Kathleen Freson, Rita De Vos, Christine Wittevrongel, Chantal Thys, Johan Defoor, Luc Vanhees, Jos Vermylen, Kathelijne Peerlinck, Chris Van Geet

    Udgivet 2005
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  15. 15
    Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region

    Chronic Fatigue Syndrome and DNA Hypomethylation of the Glucocorticoid Receptor Gene Promoter 1F Region af Elise Vangeel, Filip Van Den Eede, Titia Hompes, Benedetta Izzi, Jurgen Del‐Favero, Greta Moorkens, Diether Lambrechts, Kathleen Freson, Stephan Claes

    Udgivet 2015
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  16. 16
    Maternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during Pregnancy

    Maternal Methyl-Group Donor Intake and Global DNA (Hydroxy)Methylation before and during Pregnancy af Sara Pauwels, Radu Corneliu Duca, Roland Devlieger, Kathleen Freson, Dany P.L. Straetmans, Erik Van Herck, Inge Huybrechts, Gurdun Koppen, Lode Godderis

    Udgivet 2016
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  17. 17
    Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation

    Dietary and supplemental maternal methyl-group donor intake and cord blood DNA methylation af Sara Pauwels, Manosij Ghosh, Radu Corneliu Duca, Bram Bekaert, Kathleen Freson, Inge Huybrechts, Sabine A. S. Langie, Gudrun Koppen, Roland Devlieger, Lode Godderis

    Udgivet 2016
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  18. 18
    Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants

    Maternal intake of methyl-group donors affects DNA methylation of metabolic genes in infants af Sara Pauwels, Manosij Ghosh, Radu Corneliu Duca, Bram Bekaert, Kathleen Freson, Inge Huybrechts, Sabine A. S. Langie, Gudrun Koppen, Roland Devlieger, Lode Godderis

    Udgivet 2017
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  19. 19
    Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation

    Platelet characteristics in patients with X-linked macrothrombocytopenia because of a novel GATA1mutation af Kathleen Freson, Koenraad Devriendt, Gert Matthijs, Achiel Van Hoof, Rita De Vos, Chantal Thys, Kristien Minner, Marc Hoylaerts, Jos Vermylen, Chris Van Geet

    Udgivet 2001
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  20. 20
    The Influence of the Duration of Breastfeeding on the Infant’s Metabolic Epigenome

    The Influence of the Duration of Breastfeeding on the Infant’s Metabolic Epigenome af Sara Pauwels, Lin Symons, Eva-Lynn Vanautgaerden, Manosij Ghosh, Radu Corneliu Duca, Bram Bekaert, Kathleen Freson, Inge Huybrechts, Sabine A. S. Langie, Gudrun Koppen, Roland Devlieger, Lode Godderis

    Udgivet 2019
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