Works matching AU van Veghel-Plandsoen, Monique


Results: 7
    1
    2

    High‐yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.

    Published in:
    Human Mutation, 2022, v. 43, n. 12, p. 2130, doi. 10.1002/humu.24487
    By:
    • Douben, Hannie C. W.;
    • Nellist, Mark;
    • van Unen, Leontine;
    • Elfferich, Peter;
    • Kasteleijn, Esmee;
    • Hoogeveen‐Westerveld, Marianne;
    • Louwen, Jesse;
    • van Veghel‐Plandsoen, Monique;
    • de Valk, Walter;
    • Saris, Jasper J.;
    • Hendriks, Femke;
    • Korpershoek, Esther;
    • Hoefsloot, Lies H.;
    • van Vliet, Margreethe;
    • van Bever, Yolande;
    • van de Laar, Ingrid;
    • Aten, Emmelien;
    • Lachmeijer, Augusta M. A.;
    • Taal, Walter;
    • van den Bersselaar, Lisa
    Publication type:
    Article
    3

    Low-penetrance susceptibility to breast cancer due to CHEK2<sup>*</sup>1100delC in noncarriers of BRCA1 or BRCA2 mutations.

    Published in:
    Nature Genetics, 2002, v. 31, n. 1, p. 55
    By:
    • Meijers-Heijboer, Hanne;
    • van den Ouweland, Ans;
    • Klijn, Jan;
    • Wasielewski, Marijke;
    • de Snoo, Anja;
    • Oldenburg, Rogier;
    • Hollestelle, Antoinette;
    • Houben, Mark;
    • Crepin, Ellen;
    • van Veghel-Plandsoen, Monique;
    • Elstrodt, Fons;
    • van Duijn, Cornelia;
    • Bartels, Carina;
    • Meijers, Carel;
    • Schutte, Mieke;
    • McGuffog, Lesley;
    • Thompson, Deborah;
    • Easton, Douglas F.;
    • Sodha, Nayanta
    Publication type:
    Article
    4

    Targeted Next Generation Sequencing reveals previously unidentified TSC1 and TSC2 mutations.

    Published in:
    BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0155-4
    By:
    • Nellist, Mark;
    • Brouwer, Rutger W. W.;
    • Kockx, Christel E. M.;
    • van Veghel-Plandsoen, Monique;
    • Withagen-Hermans, Caroline;
    • Prins-Bakker, Lida;
    • Hoogeveen-Westerveld, Marianne;
    • Mrsic, Alan;
    • van den Berg, Mike M. P.;
    • Koopmans, Anna E.;
    • de Wit, Marie-Claire;
    • Jansen, Floor E.;
    • Maat-Kievit, Anneke J. A.;
    • van den Ouweland, Ans;
    • Halley, Dicky;
    • de Klein, Annelies;
    • van IJcken, Wilfred F. J.
    Publication type:
    Article
    5
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    7

    What proportion of couples with a history of recurrent pregnancy loss and with a balanced rearrangement in one parent can potentially be identified through cell-free DNA genotyping?

    Published in:
    Molecular Cytogenetics (17558166), 2023, v. 16, n. 1, p. 1, doi. 10.1186/s13039-023-00657-x
    By:
    • van Zutven, Laura J. C. M.;
    • Mijalkovic, Jona;
    • van Veghel-Plandsoen, Monique;
    • Goense, Margaret;
    • Polak, Marike;
    • Knapen, Maarten F. C. M.;
    • de Weerd, Sabina;
    • Joosten, Marieke;
    • Diderich, Karin E. M.;
    • Hoefsloot, Lies H.;
    • Van Opstal, Diane;
    • Srebniak, Malgorzata I.
    Publication type:
    Article