Cancer Risks for PMS2-Associated Lynch Syndrome
Ten Broeke, Sanne W, van der Klift, Heleen M, Tops, Carli M J, Aretz, Stefan, Bernstein, Inge, Buchanan, Daniel D, de la Chapelle, Albert, Capella, Gabriel, Clendenning, Mark, Engel, Christoph, Gallinger, Steven, Gomez Garcia, Encarna, Figueiredo, Jane C, Haile, Robert, Hampel, Heather L, Hopper, John L, Hoogerbrugge, Nicoline, von Knebel Doeberitz, Magnus, Le Marchand, Loic, Letteboer, Tom G W, Jenkins, Mark A, Lindblom, Annika, Lindor, Noralane M, Mensenkamp, Arjen R, Møller, Pål, Newcomb, Polly A, van Os, Theo A M, Pearlman, Rachel, Pineda, Marta, Rahner, Nils, Redeker, Egbert J W, Olderode-Berends, Maran J W, Rosty, Christophe, Schackert, Hans K, Scott, Rodney, Senter, Leigha, Spruijt, Liesbeth, Steinke-Lange, Verena, Suerink, Manon, Thibodeau, Stephen, Vos, Yvonne J, Wagner, Anja, Winship, Ingrid, Hes, Frederik J, Vasen, Hans F A, Wijnen, Juul T, Nielsen, Maartje, Win, Aung Ko
Published in Journal of clinical oncology (10.10.2018)
Published in Journal of clinical oncology (10.10.2018)
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Lynch syndrome caused by germline PMS2 mutations: delineating the cancer risk
ten Broeke, Sanne W, Brohet, Richard M, Tops, Carli M, van der Klift, Heleen M, Velthuizen, Mary E, Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G W, Menko, Fred H, Lindblom, Annika, Mensenkamp, Arjen R, Moller, Pal, van Os, Theo A, Rahner, Nils, Redeker, Bert J W, Sijmons, Rolf H, Spruijt, Liesbeth, Suerink, Manon, Vos, Yvonne J, Wagner, Anja, Hes, Frederik J, Vasen, Hans F, Nielsen, Maartje, Wijnen, Juul T
Published in Journal of clinical oncology (01.02.2015)
Published in Journal of clinical oncology (01.02.2015)
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Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2→qter)
Rump, P, Dijkhuizen, T, Sikkema-Raddatz, B, Lemmink, HH, Vos, YJ, Verheij, JBGM, Van Ravenswaaij, CMA
Published in Clinical genetics (01.11.2008)
Published in Clinical genetics (01.11.2008)
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The effect of genotypes and parent of origin on cancer risk and age of cancer development in PMS2 mutation carriers
Suerink, Manon, van der Klift, Heleen M., ten Broeke, Sanne W., Dekkers, Olaf M., Bernstein, Inge, Capellá Munar, Gabriel, Gomez Garcia, Encarna, Hoogerbrugge, Nicoline, Letteboer, Tom G.W., Menko, Fred H., Lindblom, Annika, Mensenkamp, Arjen, Moller, Pal, van Os, Theo A., Rahner, Nils, Redeker, Bert J.W., Olderode, Maran, Spruijt, Liesbeth, Vos, Yvonne J., Wagner, Anja, Morreau, Hans, Hes, Frederik J., Vasen, Hans F.A., Tops, Carli M., Wijnen, Juul T., Nielsen, Maartje
Published in Genetics in medicine (01.04.2016)
Published in Genetics in medicine (01.04.2016)
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Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature
Verheij, Johanna B.G.M., Sival, Deborah A., van der Hoeven, Johannes H., Vos, Yvonne J., Meiners, Linda C., Brouwer, Oebele F., van Essen, Anthonie J.
Published in European journal of paediatric neurology (2006)
Published in European journal of paediatric neurology (2006)
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Two mismatch repair gene mutations found in a colon cancer patient: which one is pathogenic?
KARIOLA, Reetta, OTWAY, Robyn, LÖNNQVIST, Karin E, RAEVAARA, Tiina E, MACRAE, Finlay, VOS, Yvonne J, KOHONEN-CORISH, Maija, HOFSTRA, Robert M. W, NYSTRÖM-LAHTI, Minna
Published in Human genetics (01.02.2003)
Published in Human genetics (01.02.2003)
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A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration : evidence for a founder effect
RUMP, P, LEMMINK, H. H, VERSCHUUREN-BEMELMANS, C. C, GROOTSCHOLTEN, P. M, FOCK, J. M, HAYFLICK, S. J, WESTAWAY, S. K, VOS, Y. J, VAN ESSEN, A. J
Published in Neurogenetics (01.12.2005)
Published in Neurogenetics (01.12.2005)
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X-linked hydrocephalus: a novel missense mutation in the L1CAM gene
Sztriha, L.ászló, Vos, Yvonne J, Verlind, Edwin, Johansen, Johan, Berg, Bertel
Published in Pediatric neurology (01.10.2002)
Published in Pediatric neurology (01.10.2002)
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Description and functional analysis of a novel in frame mutation linked to hereditary non-polyposis colorectal cancer
Raevaara, T E, Timoharju, T, Lönnqvist, K E, Kariola, R, Steinhoff, M, Hofstra, R M W, Mangold, E, Vos, Y J, Nyström-Lahti, M
Published in Journal of medical genetics (01.10.2002)
Published in Journal of medical genetics (01.10.2002)
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