Experiences of pediatric cancer patients (age 12-18 years) with extensive germline sequencing for cancer predisposition: a qualitative study
Bon, Sebastian B B, Wouters, Roel H P, Bakhuizen, Jette J, Jongmans, Marjolijn C J, van den Heuvel-Eibrink, Marry M, Grootenhuis, Martha A
Published in European journal of human genetics : EJHG (01.05.2024)
Published in European journal of human genetics : EJHG (01.05.2024)
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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism
Lezzerini, Marco, Penzo, Marianna, O’Donohue, Marie-Françoise, Marques dos Santos Vieira, Carolina, Saby, Manon, Elfrink, Hyung L, Diets, Illja J, Hesse, Anne-Marie, Couté, Yohann, Gastou, Marc, Nin-Velez, Alexandra, Nikkels, Peter G J, Olson, Alexandra N, Zonneveld-Huijssoon, Evelien, Jongmans, Marjolijn C J, Zhang, GuangJun, van Weeghel, Michel, Houtkooper, Riekelt H, Wlodarski, Marcin W, Kuiper, Roland P, Bierings, Marc B, van der Werff ten Bosch, Jutte, Leblanc, Thierry, Montanaro, Lorenzo, Dinman, Jonathan D, Da Costa, Lydie, Gleizes, Pierre-Emmanuel, MacInnes, Alyson W
Published in Nucleic acids research (24.01.2020)
Published in Nucleic acids research (24.01.2020)
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Journal Article
Somatic reversion events point towards RPL4 as a novel disease gene in a condition resembling Diamond-Blackfan Anemia
Jongmans, Marjolijn C J, Diets, Illja J, Quarello, Paola, Garelli, Emanuela, Kuiper, Roland P, Pfundt, Rolph
Published in Haematologica (Roma) (01.12.2018)
Published in Haematologica (Roma) (01.12.2018)
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Journal Article
Wilms tumour surveillance in at-risk children: Literature review and recommendations from the SIOP-Europe Host Genome Working Group and SIOP Renal Tumour Study Group
Hol, Janna A., Jewell, Rosalyn, Chowdhury, Tanzina, Duncan, Catriona, Nakata, Kayo, Oue, Takaharu, Gauthier-Villars, Marion, Littooij, Annemieke S., Kaneko, Yasuhiko, Graf, Norbert, Bourdeaut, Franck, van den Heuvel-Eibrink, Marry M., Pritchard-Jones, Kathy, Maher, Eamonn R., Kratz, Christian P., Jongmans, Marjolijn C.J.
Published in European journal of cancer (1990) (01.08.2021)
Published in European journal of cancer (1990) (01.08.2021)
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Journal Article
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy
Blanchard, Maxime G, Willemsen, Marjolein H, Walker, Jaclyn B, Dib-Hajj, Sulayman D, Waxman, Stephen G, Jongmans, Marjolijn CJ, Kleefstra, Tjitske, van de Warrenburg, Bart P, Praamstra, Peter, Nicolai, Joost, Yntema, Helger G, Bindels, René JM, Meisler, Miriam H, Kamsteeg, Erik-Jan
Published in Journal of medical genetics (01.05.2015)
Published in Journal of medical genetics (01.05.2015)
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Journal Article
Immunotherapy holds the key to cancer treatment and prevention in Constitutional Mismatch Repair Deficiency (CMMRD) syndrome
Westdorp, Harm, Kolders, Sigrid, Hoogerbrugge, Nicoline, de Vries, I. Jolanda M, Jongmans, Marjolijn C.J, Schreibelt, Gerty
Published in Cancer letters (10.09.2017)
Published in Cancer letters (10.09.2017)
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Journal Article
TRIM28 haploinsufficiency predisposes to Wilms tumor
Diets, Illja J., Hoyer, Juliane, Ekici, Arif B., Popp, Bernt, Hoogerbrugge, Nicoline, Reijmersdal, Simon V., Bhaskaran, Rajith, Hadjihannas, Michel, Vasileiou, Georgia, Thiel, Christian T., Seven, Didem, Uebe, Steffen, Ilencikova, Denisa, Waanders, Esmé, Mavinkurve‐Groothuis, Annelies M.C., Roeleveld, Nel, Krijger, Ronald R., Wegert, Jenny, Graf, Norbert, Vokuhl, Christian, Agaimy, Abbas, Gessler, Manfred, Reis, André, Kuiper, Roland P., Jongmans, Marjolijn C.J., Metzler, Markus
Published in International journal of cancer (15.08.2019)
Published in International journal of cancer (15.08.2019)
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Journal Article
Cancer risk in patients with Noonan syndrome carrying a PTPN11 mutation
JONGMANS, Marjolijn C. J, VAN DER BURGT, Ineke, KIEMENEY, Lambertus A. L. M, HOOGERBRUGGE, Nicoline, HOOGERBRUGGE, Peter M, NOORDAM, Kees, YNTEMA, Helger G, NILLESEN, Willy M, KUIPER, Roland P, LIGTENBERG, Marjolijn J. L, VAN KESSEL, Ad Geurts, VAN KRIEKEN, J. Han J. M
Published in European journal of human genetics : EJHG (01.08.2011)
Published in European journal of human genetics : EJHG (01.08.2011)
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Journal Article
Characteristics and outcome of children with renal tumors in the Netherlands: The first five-year's experience of national centralization
Roy, Prakriti, van Peer, Sophie E, de Witte, Martin M, Tytgat, Godelieve A M, Karim-Kos, Henrike E, van Grotel, Martine, van de Ven, Cees P, Mavinkurve-Groothuis, Annelies M C, Merks, Johannes H M, Kuiper, Roland P, Hol, Janna A, Janssens, Geert O R, de Krijger, Ronald R, Jongmans, Marjolijn C J, Drost, Jarno, van der Steeg, Alida F W, Littooij, Annemieke S, Wijnen, Marc H W A, van Tinteren, Harm, van den Heuvel-Eibrink, Marry M
Published in PloS one (13.01.2022)
Published in PloS one (13.01.2022)
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Journal Article
Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
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.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
The Results of CHD7 Analysis in Clinically Well-Characterized Patients with Kallmann Syndrome
Bergman, Jorieke E. H, de Ronde, Willem, Jongmans, Marjolijn C. J, Wolffenbuttel, Bruce H. R, Drop, Sten L. S, Hermus, Ad, Bocca, Gianni, Hoefsloot, Lies H, van Ravenswaaij-Arts, Conny M. A
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
Published in The journal of clinical endocrinology and metabolism (01.05.2012)
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Journal Article
Clinical and Molecular Characteristics and Outcome of Cystic Partially Differentiated Nephroblastoma and Cystic Nephroma: A Narrative Review of the Literature
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
Published in Cancers (27.02.2021)
Published in Cancers (27.02.2021)
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Journal Article
Assessment of Cancer Predisposition Syndromes in a National Cohort of Children With a Neoplasm
Bakhuizen, Jette J, Hopman, Saskia M J, Bosscha, Machteld I, Dommering, Charlotte J, van den Heuvel-Eibrink, Marry M, Hol, Janna A, Kester, Lennart A, Koudijs, Marco J, Langenberg, Karin P S, Loeffen, Jan L C, van der Lugt, Jasper, Moll, Annette C, van Noesel, Max M, Smetsers, Stephanie E, de Vos-Kerkhof, Evelien, Merks, Johannes H M, Kuiper, Roland P, Jongmans, Marjolijn C J
Published in JAMA network open (01.02.2023)
Published in JAMA network open (01.02.2023)
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Journal Article
T‐cell lymphoblastic lymphoma in constitutional mismatch repair deficiency (CMMRD): Exploring treatment opportunities
Kroeze, Emma, Weijers, Dilys D., Kleisman, Michelle M., Ilan, Uri, Bladergroen, Reno S., Hagelaar, Rico, Meijerink, Jules P. P., Jongmans, Marjolijn C. J., Loeffen, Jan L. C., Kuiper, Roland P.
Published in HemaSphere (01.05.2024)
Published in HemaSphere (01.05.2024)
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Journal Article
Childhood tumours with a high probability of being part of a tumour predisposition syndrome; reason for referral for genetic consultation
Postema, Floor A.M, Hopman, Saskia M.J, Aalfs, Cora M, Berger, Lieke P.V, Bleeker, Fonnet E, Dommering, Charlotte J, Jongmans, Marjolijn C.J, Letteboer, Tom G.W, Olderode-Berends, Maran J.W, Wagner, Anja, Hennekam, Raoul C, Merks, Johannes H.M
Published in European journal of cancer (1990) (01.07.2017)
Published in European journal of cancer (1990) (01.07.2017)
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Journal Article
High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T‐cell Lymphoblastic Lymphoma Cohort
Kroeze, Emma, Weijers, Dilys D., Hagleitner, Melanie M., Groot‐Kruseman, Hester A., Jongmans, Marjolijn C. J., Kuiper, Roland P., Pieters, Rob, Meijerink, Jules P. P., Loeffen, Jan L. C.
Published in HemaSphere (01.01.2022)
Published in HemaSphere (01.01.2022)
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Journal Article
Platelet CD34 expression in a patient with a partial deletion of transcription factor subunit CBFB
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., Reijden, Bert A.
Published in American journal of hematology (01.06.2020)
Published in American journal of hematology (01.06.2020)
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Journal Article
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcoma
Jongmans, Marjolijn C. J., Hoogerbrugge, Peter M., Hilkens, Linda, Flucke, Uta, van der Burgt, Ineke, Noordam, Kees, Ruiterkamp-Versteeg, Martina, Yntema, Helger G., Nillesen, Willy M., Ligtenberg, Marjolijn J. L., van Kessel, Ad Geurts, Kuiper, Roland P., Hoogerbrugge, Nicoline
Published in Genes chromosomes & cancer (01.07.2010)
Published in Genes chromosomes & cancer (01.07.2010)
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A neonate with a unique non‐Down syndrome transient proliferative megakaryoblastic disease
Bertrums, Eline J. M., Buijs, Arjan, Grotel, Martine, Dors, Natasja, Rooij, Jasmijn D. E., Haas, Valerie, Hopman, Sanne, Jongmans, Marjolijn C. J., Zwaan, C. M., den Heuvel‐Eibrink, Marry M.
Published in Pediatric blood & cancer (01.03.2017)
Published in Pediatric blood & cancer (01.03.2017)
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Journal Article
Familial CHARGE syndrome and the CHD7 gene: A recurrent missense mutation, intrafamilial recurrence and variability
Jongmans, Marjolijn C.J., Hoefsloot, Lies H., van der Donk, Kim P., Admiraal, Ronald J., Magee, Alex, van de Laar, Ingrid, Hendriks, Yvonne, Verheij, Joke B.G.M., Walpole, Ian, Brunner, Han G., van Ravenswaaij, Conny M.A.
Published in American journal of medical genetics. Part A (01.01.2008)
Published in American journal of medical genetics. Part A (01.01.2008)
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