Works by Duran, Karen

Results: 32
    1

    In Vitro Systematic Drug Testing Reveals Carboplatin, Paclitaxel, and Alpelisib as a Potential Novel Combination Treatment for Adult Granulosa Cell Tumors.

    Published in:
    Cancers, 2021, v. 13, n. 3, p. 368, doi. 10.3390/cancers13030368
    By:
    • Roze, Joline;
    • Sendino Garví, Elena;
    • Stelloo, Ellen;
    • Stangl, Christina;
    • Sereno, Ferdinando;
    • Duran, Karen;
    • Groeneweg, Jolijn;
    • Paijens, Sterre;
    • Nijman, Hans;
    • van Meurs, Hannah;
    • van Lonkhuijzen, Luc;
    • Piek, Jurgen;
    • Lok, Christianne;
    • Jonges, Geertruida;
    • Witteveen, Petronella;
    • Verheijen, René;
    • van Haaften, Gijs;
    • Zweemer, Ronald;
    • Monroe, Glen
    Publication type:
    Article
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    GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

    Published in:
    Human Molecular Genetics, 2019, v. 28, n. 1, p. 96, doi. 10.1093/hmg/ddy330
    By:
    • Rumping, Lynne;
    • Tessadori, Federico;
    • Pouwels, Petra J W;
    • Vringer, Esmee;
    • Wijnen, Jannie P;
    • Bhogal, Alex A;
    • Savelberg, Sanne M C;
    • Duran, Karen J;
    • Bakkers, Mark J G;
    • Ramos, Rúben J J;
    • Schellekens, Peter A W;
    • Kroes, Hester Y;
    • Klomp, Dennis W J;
    • Black, Graeme C M;
    • Taylor, Rachel L;
    • Bakkers, Jeroen P W;
    • Prinsen, Hubertus C M T;
    • Knaap, Marjo S van der;
    • Dansen, Tobias B;
    • Rehmann, Holger
    Publication type:
    Article
    4

    Recurrent Respiratory Syncytial Virus Infection in a CD14-Deficient Patient.

    Published in:
    2022
    By:
    • Besteman, Sjanna B;
    • Phung, Emily;
    • Raeven, Henriette H M;
    • Amatngalim, Gimano D;
    • Rumpret, Matevž;
    • Crabtree, Juliet;
    • Schepp, Rutger M;
    • Rodenburg, Lisa W;
    • Siemonsma, Susanna G;
    • Verleur, Nile;
    • Slooten, Rianne van;
    • Duran, Karen;
    • Haaften, Gijs W van;
    • Beekman, Jeffrey M;
    • Chang, Lauren A;
    • Meyaard, Linde;
    • van der Bruggen, Tjomme;
    • Berbers, Guy A M;
    • Derksen, Nicole;
    • Nierkens, Stefan
    Publication type:
    journal article
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    Identification of human D lactate dehydrogenase deficiency.

    Published in:
    Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-09458-6
    By:
    • Monroe, Glen R.;
    • van Eerde, Albertien M.;
    • Tessadori, Federico;
    • Duran, Karen J.;
    • Savelberg, Sanne M. C.;
    • van Alfen, Johanna C.;
    • Terhal, Paulien A.;
    • van der Crabben, Saskia N.;
    • Lichtenbelt, Klaske D.;
    • Fuchs, Sabine A.;
    • Gerrits, Johan;
    • van Roosmalen, Markus J.;
    • van Gassen, Koen L.;
    • van Aalderen, Mirjam;
    • Koot, Bart G.;
    • Oostendorp, Marlies;
    • Duran, Marinus;
    • Visser, Gepke;
    • de Koning, Tom J.;
    • Calì, Francesco
    Publication type:
    Article
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    Alergia alimentaria no mediada por IgE.

    Published in:
    Revista Alergia de Mexico, 2023, v. 70, n. 4, p. 265, doi. 10.29262/ram.v70i4.1338
    By:
    • Isabel Rojo-Gutiérrez, María;
    • Ballesteros-González, Diego;
    • Karen Ortiz-Durán, Ana
    Publication type:
    Article
    11
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    Cantú syndrome: Findings from 74 patients in the International Cantú Syndrome Registry.

    Published in:
    American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2019, v. 181, n. 4, p. 658, doi. 10.1002/ajmg.c.31753
    By:
    • Grange, Dorothy K.;
    • Roessler, Helen I.;
    • McClenaghan, Conor;
    • Duran, Karen;
    • Shields, Kathleen;
    • Remedi, Maria S.;
    • Knoers, Nine V. A. M.;
    • Lee, Jin‐Moo;
    • Kirk, Edwin P.;
    • Scurr, Ingrid;
    • Smithson, Sarah F.;
    • Singh, Gautam K.;
    • Haelst, Mieke M.;
    • Nichols, Colin G.;
    • Haaften, Gijs
    Publication type:
    Article
    13
    14

    Mate pair sequencing for the detection of chromosomal aberrations in patients with intellectual disability and congenital malformations.

    Published in:
    European Journal of Human Genetics, 2014, v. 22, n. 5, p. 652, doi. 10.1038/ejhg.2013.220
    By:
    • Vergult, Sarah;
    • Van Binsbergen, Ellen;
    • Sante, Tom;
    • Nowak, Silke;
    • Vanakker, Olivier;
    • Claes, Kathleen;
    • Poppe, Bruce;
    • Van der Aa, Nathalie;
    • van Roosmalen, Markus J;
    • Duran, Karen;
    • Tavakoli-Yaraki, Masoumeh;
    • Swinkels, Marielle;
    • van den Boogaard, Marie-José;
    • van Haelst, Mieke;
    • Roelens, Filip;
    • Speleman, Frank;
    • Cuppen, Edwin;
    • Mortier, Geert;
    • Kloosterman, Wigard P;
    • Menten, Björn
    Publication type:
    Article
    15

    Discovery of variants unmasked by hemizygous deletions.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 7, p. 748, doi. 10.1038/ejhg.2011.263
    By:
    • Hochstenbach, Ron;
    • Poot, Martin;
    • Nijman, Isaac J;
    • Renkens, Ivo;
    • Duran, Karen J;
    • van'T Slot, Ruben;
    • van Binsbergen, Ellen;
    • van der Zwaag, Bert;
    • Vogel, Maartje J;
    • Terhal, Paulien A;
    • Ploos van Amstel, Hans Kristian;
    • Kloosterman, Wigard P;
    • Cuppen, Edwin
    Publication type:
    Article
    16
    17

    Heterozygous KIDINS220/ARMS nonsense variants cause spastic paraplegia, intellectual disability, nystagmus, and obesity.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 11, p. 2158, doi. 10.1093/hmg/ddw082
    By:
    • Josifova, Dragana J.;
    • Monroe, Glen R.;
    • Tessadori, Federico;
    • Graaff, Esther de;
    • van der Zwaag2, Bert;
    • Mehta, Sarju G.;
    • Harakalova, Magdalena;
    • Duran, Karen J.;
    • Savelberg, Sanne M.C.;
    • Nijman, Isaäc J.;
    • Jungbluth, Heinz;
    • Hoogenraad, Casper C.;
    • Bakkers, Jeroen;
    • Knoers, Nine V.;
    • Firth, Helen V.;
    • Beales, Philip L.;
    • Haaften, Gijs van;
    • van Haelst, Mieke M.
    Publication type:
    Article
    18
    19

    Genes in the Ureteric Budding Pathway: Association Study on Vesico-Ureteral Reflux Patients.

    Published in:
    PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0031327
    By:
    • Eerde, Albertien M. van;
    • Duran, Karen;
    • Riel, Els van;
    • Kovel, Carolien G. F. de;
    • Koeleman, Bobby P. C.;
    • Knoers, Nine V. A. M.;
    • Renkema, Kirsten Y.;
    • van der Horst, Henricus J. R;
    • Bökenkamp, Arend;
    • van Hagen, Johanna M.;
    • van den Berg, Leonard H.;
    • Wolffenbuttel, Katja P.;
    • van den Hoek, Joop;
    • Feitz, Wouter F.;
    • de Jong, Tom P. V. M.;
    • Giltay, Jacques C.;
    • Wijmenga, Cisca
    Publication type:
    Article
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    29

    Dominant missense mutations in ABCC9 cause Cantú syndrome.

    Published in:
    Nature Genetics, 2012, v. 44, n. 7, p. 793, doi. 10.1038/ng.2324
    By:
    • Harakalova, Magdalena;
    • van Harssel, Jeske J T;
    • Terhal, Paulien A;
    • van Lieshout, Stef;
    • Duran, Karen;
    • Renkens, Ivo;
    • Amor, David J;
    • Wilson, Louise C;
    • Kirk, Edwin P;
    • Turner, Claire L S;
    • Shears, Debbie;
    • Garcia-Minaur, Sixto;
    • Lees, Melissa M;
    • Ross, Alison;
    • Venselaar, Hanka;
    • Vriend, Gert;
    • Takanari, Hiroki;
    • Rook, Martin B;
    • van der Heyden, Marcel A G;
    • Asselbergs, Folkert W
    Publication type:
    Article
    30
    31

    Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder.

    Published in:
    2017
    By:
    • Lipstein, Noa;
    • Verhoeven-Duif, Nanda M.;
    • Michelassi, Francesco E.;
    • Calloway, Nathaniel;
    • van Hasselt, Peter M.;
    • Pienkowska, Katarzyna;
    • van Haaften, Gijs;
    • van Haelst, Mieke M.;
    • van Empelen, Ron;
    • Cuppen, Inge;
    • van Teeseling, Heleen C.;
    • Evelein, Annemieke M. V.;
    • Vorstman, Jacob A.;
    • Thoms, Sven;
    • Jahn, Olaf;
    • Duran, Karen J.;
    • Monroe, Glen R.;
    • Ryan, Timothy A.;
    • Taschenberger, Holger;
    • Dittman, Jeremy S.
    Publication type:
    journal article
    32

    Destabilized SMC5/6 complex leads to chromosome breakage syndrome with severe lung disease.

    Published in:
    2016
    By:
    • van der Crabben, Saskia N.;
    • Hennus, Marije P.;
    • McGregor, Grant A.;
    • Ritter, Deborah I.;
    • Nagamani, Sandesh C. S.;
    • Wells, Owen S.;
    • Harakalova, Magdalena;
    • Chinn, Ivan K.;
    • Alt, Aaron;
    • Vondrova, Lucie;
    • Hochstenbach, Ron;
    • van Montfrans, Joris M.;
    • Terheggen-Lagro, Suzanne W.;
    • van Lieshout, Stef;
    • van Roosmalen, Markus J.;
    • Renkens, Ivo;
    • Duran, Karen;
    • Nijman, Isaac J.;
    • Kloosterman, Wigard P.;
    • Hennekam, Eric
    Publication type:
    journal article