Works by van den Ouweland, Ans

Results: 62
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    Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.

    Published in:
    Cancers, 2019, v. 11, n. 8, p. 1114, doi. 10.3390/cancers11081114
    By:
    • Chau, Cindy;
    • van Doorn, Remco;
    • van Poppelen, Natasha M.;
    • van der Stoep, Nienke;
    • Mensenkamp, Arjen R.;
    • Sijmons, Rolf H.;
    • van Paassen, Barbara W.;
    • van den Ouweland, Ans M. W.;
    • Naus, Nicole C.;
    • van der Hout, Annemieke H.;
    • Potjer, Thomas P.;
    • Bleeker, Fonnet E.;
    • Wevers, Marijke R.;
    • van Hest, Liselotte P.;
    • Jongmans, Marjolijn C. J.;
    • Marinkovic, Marina;
    • Bleeker, Jaco C.;
    • Jager, Martine J.;
    • Luyten, Gregorius P. M.;
    • Nielsen, Maartje
    Publication type:
    Article
    3

    Proper genomic profiling of (BRCA1-mutated) basal-like breast carcinomas requires prior removal of tumor infiltrating lymphocytes.

    Published in:
    Molecular Oncology, 2015, v. 9, n. 4, p. 877, doi. 10.1016/j.molonc.2014.12.012
    By:
    • Massink, Maarten P.G.;
    • Kooi, Irsan E.;
    • van Mil, Saskia E.;
    • Jordanova, Ekaterina S.;
    • Ameziane, Najim;
    • Dorsman, Josephine C.;
    • van Beek, Daphne M.;
    • van der Voorn, J. Patrick;
    • Sie, Daoud;
    • Ylstra, Bauke;
    • van Deurzen, Carolien H.M.;
    • Martens, John W.;
    • Smid, Marcel;
    • Sieuwerts, Anieta M.;
    • de Weerd, Vanja;
    • Foekens, John A.;
    • van den Ouweland, Ans M.W.;
    • van Dyk, Ewald;
    • Nederlof, Petra M.;
    • Waisfisz, Quinten
    Publication type:
    Article
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    Somatic aberrations of mismatch repair genes as a cause of microsatellite-unstable cancers.

    Published in:
    Journal of Pathology, 2014, v. 234, n. 4, p. 548, doi. 10.1002/path.4419
    By:
    • Geurts‐Giele, Willemina RR;
    • Leenen, Celine HM;
    • Dubbink, Hendrikus J;
    • Meijssen, Isabelle C;
    • Post, Edward;
    • Sleddens, Hein FBM;
    • Kuipers, Ernst J;
    • Goverde, Anne;
    • van den Ouweland, Ans MW;
    • van Lier, Margot GF;
    • Steyerberg, Ewout W;
    • van Leerdam, Monique E;
    • Wagner, Anja;
    • Dinjens, Winand NM
    Publication type:
    Article
    6

    Yield of routine molecular analyses in colorectal cancer patients ≤70 years to detect underlying Lynch syndrome.

    Published in:
    Journal of Pathology, 2012, v. 226, n. 5, p. 764, doi. 10.1002/path.3963
    By:
    • van Lier, Margot GF;
    • Leenen, Celine HM;
    • Wagner, Anja;
    • Ramsoekh, Dewkoemar;
    • Dubbink, Hendrikus J;
    • van den Ouweland, Ans MW;
    • Westenend, Pieter J;
    • de Graaf, Eelco JR;
    • Wolters, Leonieke MM;
    • Vrijland, Wietske W;
    • Kuipers, Ernst J;
    • van Leerdam, Monique E;
    • Steyerberg, Ewout W;
    • Dinjens, Winand NM
    Publication type:
    Article
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    Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12–q13.

    Published in:
    Human Genetics, 2000, v. 106, n. 1, p. 58, doi. 10.1007/s004399900227
    By:
    • Takahashi, Meiko;
    • Rapley, Elizabeth;
    • Biggs, Patrick J.;
    • Lakhani, Sunil R;
    • Cooke, David;
    • Hansen, Juliana;
    • Blair, Edward;
    • Hofmann, B.;
    • Siebert, Reiner;
    • Turner, Gwen;
    • Evans, D. Gareth;
    • Schrander-Stumpel, C.;
    • Beemer, Frits A.;
    • van Vloten, Willem A.;
    • Breuning, Martijn H.;
    • van den Ouweland, Ans;
    • Halley, Dicky;
    • Delpech, Bertrand;
    • Cleveland, Mark;
    • Leigh, Irene
    Publication type:
    Article
    9

    Novel Histopathological Patterns in Cortical Tubers of Epilepsy Surgery Patients with Tuberous Sclerosis Complex.

    Published in:
    PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157396
    By:
    • Mühlebner, Angelika;
    • van Scheppingen, Jackelien;
    • Hulshof, Hanna M.;
    • Scholl, Theresa;
    • Iyer, Anand M.;
    • Anink, Jasper J.;
    • van den Ouweland, Ans M. W.;
    • Nellist, Mark D.;
    • Jansen, Floor E.;
    • Spliet, Wim G. M.;
    • Krsek, Pavel;
    • Benova, Barbora;
    • Zamecnik, Josef;
    • Crino, Peter B.;
    • Prayer, Daniela;
    • Czech, Thomas;
    • Wöhrer, Adelheid;
    • Rahimi, Jasmin;
    • Höftberger, Romana;
    • Hainfellner, Johannes A.
    Publication type:
    Article
    10

    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
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    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
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    The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene.

    Published in:
    BMC Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12863-016-0346-9
    By:
    • Farkas, Katalin;
    • Deák, Barbara Kocsis;
    • Sánchez, Laura Cubells;
    • Martínez, Ana Mercedes Victoria;
    • Corell, Juan José Vilata;
    • Botella, Alfredo Montoro;
    • Benito, Goitzane Marcaida;
    • López, Raquel Rodríguez;
    • Vanecek, Tomas;
    • Kazakov, Dmitry V.;
    • Kromosoeto, Joan N. R.;
    • van den Ouweland, Ans M. W.;
    • Varga, János;
    • Széll, Márta;
    • Nagy, Nikoletta
    Publication type:
    Article
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    Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex.

    Published in:
    Human Mutation, 2012, v. 33, n. 3, p. 476, doi. 10.1002/humu.22007
    By:
    • Hoogeveen-Westerveld, Marianne;
    • Ekong, Rosemary;
    • Povey, Sue;
    • Karbassi, Izabela;
    • Batish, Sat Dev;
    • den Dunnen, Johan T.;
    • van Eeghen, Agnies;
    • Thiele, Elizabeth;
    • Mayer, Karin;
    • Dies, Kira;
    • Wen, Li;
    • Thompson, Catherine;
    • Sparagana, Steven P.;
    • Davies, Peter;
    • Aalfs, Cora;
    • van den Ouweland, Ans;
    • Halley, Dicky;
    • Nellist, Mark
    Publication type:
    Article
    21

    Recurrence and variability of germline EPCAM deletions in Lynch syndrome.

    Published in:
    Human Mutation, 2011, v. 32, n. 4, p. 407, doi. 10.1002/humu.21446
    By:
    • Kuiper, Roland P.;
    • Vissers, Lisenka E. L. M.;
    • Venkatachalam, Ramprasath;
    • Bodmer, Danielle;
    • Hoenselaar, Eveline;
    • Goossens, Monique;
    • Haufe, Aline;
    • Kamping, Eveline;
    • Niessen, Renée C.;
    • Hogervorst, Frans B. L.;
    • Gille, Johan J. P.;
    • Redeker, Bert;
    • Tops, Carli M. J.;
    • van Gijn, Marielle E.;
    • van den Ouweland, Ans M.W.;
    • Rahner, Nils;
    • Steinke, Verena;
    • Kahl, Philip;
    • Holinski-Feder, Elke;
    • Morak, Monika
    Publication type:
    Article
    22

    Legius syndrome in fourteen families.

    Published in:
    Human Mutation, 2011, v. 32, n. 1, p. E1985, doi. 10.1002/humu.21404
    By:
    • Denayer, Ellen;
    • Chmara, Magdalena;
    • Brems, Hilde;
    • Kievit, Anneke Maat;
    • van Bever, Yolande;
    • Van den Ouweland, Ans MW;
    • Van Minkelen, Rick;
    • de Goede-Bolder, Arja;
    • Oostenbrink, Rianne;
    • Lakeman, Phillis;
    • Beert, Eline;
    • Ishizaki, Takuma;
    • Mori, Tomoaki;
    • Keymolen, Kathelijn;
    • Van den Ende, Jenneke;
    • Mangold, Elisabeth;
    • Peltonen, Sirkku;
    • Brice, Glen;
    • Rankin, Julia;
    • Van Spaendonck-Zwarts, Karin Y
    Publication type:
    Article
    23

    Leiden open variation database of the MUTYH gene.

    Published in:
    2010
    By:
    • Out, Astrid A.;
    • Tops, Carli M.J.;
    • Nielsen, Maartje;
    • Weiss, Marjan M.;
    • van Minderhout, Ivonne J.H.M.;
    • Fokkema, Ivo F.A.C.;
    • Buisine, Marie-Pierre;
    • Claes, Kathleen;
    • Colas, Chrystelle;
    • Fodde, Riccardo;
    • Fostira, Florentia;
    • Franken, Patrick F.;
    • Gaustadnes, Mette;
    • Heinimann, Karl;
    • Hodgson, Shirley V.;
    • Hogervorst, Frans B.L.;
    • Holinski-Feder, Elke;
    • Lagerstedt-Robinson, Kristina;
    • Olschwang, Sylviane;
    • Ans M.W., van den Ouweland
    Publication type:
    Other
    24

    Genetic analysis of von Hippel-Lindau disease.

    Published in:
    2010
    By:
    • Nordstrom-O'Brien, Morgan;
    • van der Luijt, Rob B.;
    • van Rooijen, Ellen;
    • van den Ouweland, Ans M.;
    • Majoor-Krakauer, Danielle F.;
    • Lolkema, Martijn P.;
    • van Brussel, Aram;
    • Voest, Emile E.;
    • Giles, Rachel H.
    Publication type:
    Other
    25

    A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

    Published in:
    Human Mutation, 2006, v. 27, n. 7, p. 654, doi. 10.1002/humu.20340
    By:
    • Hout, Annemarie H. van der;
    • Ouweland, Ans M.W. van den;
    • Luijt, Rob B. van der;
    • Gille, Hans J.P.;
    • Bodmer, Daniëlle;
    • Brüggenwirth, Hennie;
    • Mulder, Inge M.;
    • Vlies, Pieter van der;
    • Elfferich, Peter;
    • Huisman, Maarten T.;
    • Berge, Annelies M. ten;
    • Kromosoeto, Joan;
    • Jansen, Rumo P.M.;
    • Zon, Patrick H.A. van;
    • Vriesman, Thyrsa;
    • Arts, Neeltje;
    • Lange, Majella Boutmy-de;
    • Oosterwijk, Jan C.;
    • Meijers-Heijboer, Hanne;
    • Ausems, Margreet G.E.M.
    Publication type:
    Article
    26

    Deletions spanning the neurofibromatosis type 1 gene: Implications for genotype-phenotype correlations in neurofibromatosis type 1?

    Published in:
    Human Mutation, 1997, v. 9, n. 5, p. 458, doi. 10.1002/(SICI)1098-1004(1997)9:5&lt;458::AID-HUMU13&gt;3.0.CO;2-1
    By:
    • Cnossen, Marjon H.;
    • van der Est, Mieke N.;
    • Breuning, Martijn H.;
    • van Asperen, Christi J.;
    • Breslau-Siderius, Elisabeth J.;
    • van der Ploeg, Ans T.;
    • de Goede-Bolder, Arja;
    • van den Ouweland, Ans M. W.;
    • Halley, Dicky J. J.;
    • Niermeijer, Martinus F.
    Publication type:
    Article
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    Saethre–Chotzen syndrome: long‐term outcome of a syndrome‐specific management protocol.

    Published in:
    Developmental Medicine & Child Neurology, 2021, v. 63, n. 1, p. 104, doi. 10.1111/dmcn.14670
    By:
    • Den Ottelander, Bianca K;
    • Van Veelen, Marie‐Lise C;
    • De Goederen, Robbin;
    • Van De Beeten, Stephanie DC;
    • Dremmen, Marjolein HG;
    • Loudon, Sjoukje E;
    • Versnel, Sarah L;
    • Van Den Ouweland, Ans MW;
    • Van Dooren, Marieke F;
    • Joosten, Koen FM;
    • Mathijssen, Irene MJ
    Publication type:
    Article
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    Targeted sequencing by proximity ligation for comprehensive variant detection and local haplotyping.

    Published in:
    Nature Biotechnology, 2014, v. 32, n. 10, p. 1019, doi. 10.1038/nbt.2959
    By:
    • de Vree, Paula J P;
    • de Wit, Elzo;
    • Yilmaz, Mehmet;
    • van de Heijning, Monique;
    • Klous, Petra;
    • Verstegen, Marjon J A M;
    • Wan, Yi;
    • Teunissen, Hans;
    • Krijger, Peter H L;
    • Geeven, Geert;
    • Eijk, Paul P;
    • Sie, Daoud;
    • Ylstra, Bauke;
    • Hulsman, Lorette O M;
    • van Dooren, Marieke F;
    • van Zutven, Laura J C M;
    • van den Ouweland, Ans;
    • Verbeek, Sjef;
    • van Dijk, Ko Willems;
    • Cornelissen, Marion
    Publication type:
    Article
    34

    Genome-wide linkage scan in Dutch hereditary non-BRCA1/2 breast cancer families identifies 9q21-22 as a putative breast cancer susceptibility locus.

    Published in:
    Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 947, doi. 10.1002/gcc.20597
    By:
    • Oldenburg, Rogier A.;
    • Kroeze-Jansema, Karin H. G.;
    • Houwing-Duistermaat, Jeanine J.;
    • Bayley, Jean-Pierre;
    • Dambrot, Cheryl;
    • van Asperen, Christi J.;
    • van den Ouweland, Ans M. W.;
    • Bakker, Bert;
    • van Beers, Erik H.;
    • Nederlof, Petra M.;
    • Vasen, Hans;
    • Hoogerbrugge, Nicoline;
    • Cornelisse, Cees J.;
    • Meijers-Heijboer, Hanne;
    • Devilee, Peter
    Publication type:
    Article
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    Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.

    Published in:
    European Journal of Human Genetics, 2011, v. 19, n. 2, p. 157, doi. 10.1038/ejhg.2010.156
    By:
    • Van den Ouweland, Ans M. W.;
    • Elfferich, Peter;
    • Zonnenberg, Bernard A.;
    • Arts, Willem F.;
    • Kleefstra, Tjitske;
    • Nellist, Mark D.;
    • Millan, Jose M.;
    • Withagen-Hermans, Caroline;
    • Maat-Kievit, Anneke J. A.;
    • Halley, Dicky J. J.
    Publication type:
    Article
    40

    Missense mutations to the TSC1 gene cause tuberous sclerosis complex.

    Published in:
    European Journal of Human Genetics, 2009, v. 17, n. 3, p. 319, doi. 10.1038/ejhg.2008.170
    By:
    • Nellist, Mark;
    • van den Heuvel, Diana;
    • Schluep, Diane;
    • Exalto, Carla;
    • Goedbloed, Miriam;
    • Maat-Kievit, Anneke;
    • van Essen, Ton;
    • van Spaendonck-Zwarts, Karin;
    • Jansen, Floor;
    • Helderman, Paula;
    • Bartalini, Gabriella;
    • Vierimaa, Outi;
    • Penttinen, Maila;
    • van den Ende, Jenneke;
    • van den Ouweland, Ans;
    • Halley, Dicky
    Publication type:
    Article
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    Positional Cloning of a Gene Involved in Hereditary Multiple Exostoses.

    Published in:
    Human Molecular Genetics, 1996, v. 5, n. 10, p. 1547, doi. 10.1093/hmg/5.10.1547
    By:
    • Wuyts, Wim;
    • Van Hul, Wim;
    • Wauters, Jan;
    • Nemtsova, Marina;
    • Reyniers, Edwin;
    • Van Hul, Els;
    • De Boulle, Kristel;
    • de Vries, Bert B. A.;
    • Hendrickx, Jan;
    • Herrygers, Ilde;
    • Bossuyt, Paul;
    • Balemans, Wendy;
    • Fransen, Erik;
    • Vits, Lieve;
    • Coucke, Paul;
    • Nowak, Norma J.;
    • Shows, Thomas B.;
    • Mallet, Laurence;
    • van den Ouweland, Ans M. W.;
    • McGaughran, Julie
    Publication type:
    Article
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