Risultati della ricerca - Jongmans, Marjolijn C

Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan anemia di Jongmans, Marjolijn C. J., Diets, Illja J., Quarello, Paola, Garelli, Emanuela, Kuiper, Roland P., Pfundt, Rolph

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Surveillance recommendations for DICER1 pathogenic variant carriers: a report from the SIOPE Host Genome Working Group and CanGene-CanVar Clinical Guideline Working Group di Bakhuizen, Jette J., Hanson, Helen, van der Tuin, Karin, Lalloo, Fiona, Tischkowitz, Marc, Wadt, Karin, Jongmans, Marjolijn C. J.

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Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation di Janssen, Hennie C.J.P., Vulto-van Silfhout, Anneke T., Jongmans, Marjolijn C.J., van der Hout, Annemieke H., Overeem, Sebastiaan

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Cancer prevention by aspirin in children with Constitutional Mismatch Repair Deficiency (CMMRD) di Leenders, Erika K. S. M., Westdorp, Harm, Brüggemann, Roger J., Loeffen, Jan, Kratz, Christian, Burn, John, Hoogerbrugge, Nicoline, Jongmans, Marjolijn C. J.

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In Response to: Pediatric Myelodysplastic Syndrome with Germline RRAS Mutation: Expanding the Phenotype of RASopathies di van Engelen, Nienke, Diets, Illja, Bresters, Dorine, van den Bergen, Janneke C., Vrancken, Alexander F.J.E., Kuiper, Roland P., Jongmans, Marjolijn C.J.

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High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort di Kroeze, Emma, Weijers, Dilys D., Hagleitner, Melanie M., de Groot-Kruseman, Hester A., Jongmans, Marjolijn C. J., Kuiper, Roland P., Pieters, Rob, Meijerink, Jules P. P., Loeffen, Jan L. C.

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Challenges of Neoantigen Targeting in Lynch Syndrome and Constitutional Mismatch Repair Deficiency Syndrome di Abidi, Asima, Gorris, Mark A. J., Brennan, Evan, Jongmans, Marjolijn C. J., Weijers, Dilys D., Kuiper, Roland P., de Voer, Richarda M., Hoogerbrugge, Nicoline, Schreibelt, Gerty, de Vries, I. Jolanda M.

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Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature di van Peer, Sophie E., Pleijte, Corine J. H., de Krijger, Ronald R., Jongmans, Marjolijn C. J., Kuiper, Roland P., Lilien, Marc R., van Grotel, Martine, Graf, Norbert, van den Heuvel-Eibrink, Marry M., Hol, Janna A.

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Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation di Jongmans, Marjolijn C J, van der Burgt, Ineke, Hoogerbrugge, Peter M, Noordam, Kees, Yntema, Helger G, Nillesen, Willy M, Kuiper, Roland P, Ligtenberg, Marjolijn JL, van Kessel, Ad Geurts, van Krieken, J Han JM, Kiemeney, Lambertus ALM, Hoogerbrugge, Nicoline

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Analyzing structure–function relationships of artificial and cancer-associated PARP1 variants by reconstituting TALEN-generated HeLa PARP1 knock-out cells di Rank, Lisa, Veith, Sebastian, Gwosch, Eva C., Demgenski, Janine, Ganz, Magdalena, Jongmans, Marjolijn C., Vogel, Christopher, Fischbach, Arthur, Buerger, Stefanie, Fischer, Jan M.F., Zubel, Tabea, Stier, Anna, Renner, Christina, Schmalz, Michael, Beneke, Sascha, Groettrup, Marcus, Kuiper, Roland P., Bürkle, Alexander, Ferrando-May, Elisa, Mangerich, Aswin

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Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB di van Bergen, Maaike G.J.M., Saes, Joline L., Simons, Annet, Hebeda, Konnie M., Henskens, Yvonne M.C., Barteling, Wideke, Huys, Erik, Laros‐van Gorkom, Britta A.P., Schols, Saskia E.M., Preijers, Frank W., Jongmans, Marjolijn C.J., Jansen, Joop H., van der Reijden, Bert A.

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Universal Tumor DNA BRCA1/2 Testing of Ovarian Cancer: Prescreening PARPi Treatment and Genetic Predisposition di Vos, Janet R, Fakkert, Ingrid E, de Hullu, Joanne A, van Altena, Anne M, Sie, Aisha S, Ouchene, Hicham, Willems, Riki W, Nagtegaal, Iris D, Jongmans, Marjolijn C J, Mensenkamp, Arjen R, Woldringh, Gwendolyn H, Bulten, Johan, Leter, Edward M, Kets, C Marleen, Simons, Michiel, Ligtenberg, Marjolijn J L, Hoogerbrugge, Nicoline

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Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors di Sabatella, Mariangela, Mantere, Tuomo, Waanders, Esmé, Neveling, Kornelia, Mensenkamp, Arjen R, van Dijk, Freerk, Hehir‐Kwa, Jayne Y, Derks, Ronnie, Kwint, Michael, O'Gorman, Luke, Tropa Martins, Madalena, Gidding, Corrie EM, Lequin, Maarten H, Küsters, Benno, Wesseling, Pieter, Nelen, Marcel, Biegel, Jacklyn A, Hoischen, Alexander, Jongmans, Marjolijn C, Kuiper, Roland P

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Prevalence of (Epi)genetic Predisposing Factors in a 5-Year Unselected National Wilms Tumor Cohort: A Comprehensive Clinical and Genomic Characterization di Hol, Janna A., Kuiper, Roland P., van Dijk, Freerk, Waanders, Esmé, van Peer, Sophie E., Koudijs, Marco J., Bladergroen, Reno, van Reijmersdal, Simon V., Morgado, Lionel M., Bliek, Jet, Lombardi, Maria Paola, Hopman, Saskia, Drost, Jarno, de Krijger, Ronald R., van den Heuvel-Eibrink, Marry M., Jongmans, Marjolijn C.J.

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Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita di Jongmans, Marjolijn C.J., Verwiel, Eugene T.P., Heijdra, Yvonne, Vulliamy, Tom, Kamping, Eveline J., Hehir-Kwa, Jayne Y., Bongers, Ernie M.H.F., Pfundt, Rolph, van Emst, Liesbeth, van Leeuwen, Frank N., van Gassen, Koen L.I., Geurts van Kessel, Ad, Dokal, Inderjeet, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn J.L., Kuiper, Roland P.

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Clinical characteristics and outcomes of children with WAGR syndrome and Wilms tumor and/or nephroblastomatosis: The 30‐year SIOP‐RTSG experience di Hol, Janna A., Jongmans, Marjolijn C. J., Sudour‐Bonnange, Hélène, Ramírez‐Villar, Gema L., Chowdhury, Tanzina, Rechnitzer, Catherine, Pal, Niklas, Schleiermacher, Gudrun, Karow, Axel, Kuiper, Roland P., de Camargo, Beatriz, Avcin, Simona, Redzic, Danka, Wachtel, Antonio, Segers, Heidi, Vujanic, Gordan M., van Tinteren, Harm, Bergeron, Christophe, Pritchard‐Jones, Kathy, Graf, Norbert, van den Heuvel‐Eibrink, Marry M.

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Germ-line and somatic DICER1 mutations in pineoblastoma di de Kock, Leanne, Sabbaghian, Nelly, Druker, Harriet, Weber, Evan, Hamel, Nancy, Miller, Suzanne, Choong, Catherine S., Gottardo, Nicholas G., Kees, Ursula R., Rednam, Surya P., van Hest, Liselotte P., Jongmans, Marjolijn C., Jhangiani, Shalini, Lupski, James R., Zacharin, Margaret, Bouron-Dal Soglio, Dorothée, Huang, Annie, Priest, John R., Perry, Arie, Mueller, Sabine, Albrecht, Steffen, Malkin, David, Grundy, Richard G., Foulkes, William D.

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Bilateral Renal Tumors in Children: The First 5 Years’ Experience of National Centralization in The Netherlands and a Narrative Review of the Literature di van Peer, Sophie E., Hol, Janna A., van der Steeg, Alida F. W., van Grotel, Martine, Tytgat, Godelieve A. M., Mavinkurve-Groothuis, Annelies M. C., Janssens, Geert O. R., Littooij, Annemieke S., de Krijger, Ronald R., Jongmans, Marjolijn C. J., Lilien, Marc R., Drost, Jarno, Kuiper, Roland P., van Tinteren, Harm, Wijnen, Marc H. W. A., van den Heuvel-Eibrink, Marry M.

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

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Incidence of and Risk Factors for Histologically Confirmed Solid Benign Tumors Among Long-term Survivors of Childhood Cancer di Kok, Judith L., Teepen, Jop C., van der Pal, Helena J., van Leeuwen, Flora E., Tissing, Wim J. E., Neggers, Sebastian J. C. M. M., Loonen, Jacqueline J., Louwerens, Marloes, Versluys, Birgitta, van den Heuvel-Eibrink, Marry M., van Dulmen-den Broeder, Eline, Jaspers, Monique M. W., van Santen, Hanneke M., van der Heiden-van der Loo, Margriet, Janssens, Geert O., Maduro, John H., Bruggink, Annette H., Jongmans, Marjolijn C., Kremer, Leontien C. M., Ronckers, Cécile M.

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