Somatic APC mosaicism: an underestimated cause of polyposis coli von Hes, F J, Nielsen, M, Bik, E C, Konvalinka, D, Wijnen, J T, Bakker, E, Vasen, H F A, Breuning, M H, Tops, C M J

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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients von Hensen, E. F., Siemers, M. D., Jansen, J. C., Corssmit, E. P. M., Romijn, J. A., Tops, C. M. J., van der Mey, A. G. L., Devilee, P., Cornelisse, C. J., Bayley, J. P., Vriends, A. H. J. T.

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Contribution of bi-allelic germline MUTYH mutations to early-onset and familial colorectal cancer and to low number of adenomatous polyps: case-series and literature review von Knopperts, A. P., Nielsen, M., Niessen, R. C., Tops, C. M. J., Jorritsma, B., Varkevisser, J., Wijnen, J., Siezen, C. L. E., Heine-Bröring, R. C., van Kranen, H. J., Vos, Y. J., Westers, H., Kampman, E., Sijmons, R. H., Hes, F. J.

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High frequency of copy-neutral LOH in MUTYH-associated polyposis carcinomas von Middeldorp, A, van Puijenbroek, M, Nielsen, M, Corver, WE, Jordanova, ES, ter Haar, N, Tops, CMJ, Vasen, HFA, Lips, EH, van Eijk, R, Hes, FJ, Oosting, J, Wijnen, J, van Wezel, T, Morreau, H

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Evaluation of current prediction models for Lynch syndrome: updating the PREMM5 model to identify PMS2 mutation carriers von Goverde, A., Spaander, M. C. W., Nieboer, D., van den Ouweland, A. M. W., Dinjens, W. N. M., Dubbink, H. J., Tops, C. J., ten Broeke, S. W., Bruno, M. J., Hofstra, R. M. W., Steyerberg, E. W., Wagner, A.

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High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands von Hensen, EF, van Duinen, N, Jansen, JC, Corssmit, EPM, Tops, CMJ, Romijn, JA, Vriends, AHJT, van der Mey, AGL, Cornelisse, CJ, Devilee, P, Bayley, JP

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The use of genetic testing in hereditary colorectal cancer syndromes: genetic testing in HNPCC, (A)FAP and MAP von Ramsoekh, D, van Leerdam, ME, Tops, CMJ, Dooijes, D, Steyerberg, EW, Kuipers, EJ, Wagner, A

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Germline mutations in APC and MUTYH are responsible for the majority of families with attenuated familial adenomatous polyposis von Nielsen, M, Hes, FJ, Nagengast, FM, Weiss, MM, Mathus-Vliegen, EM, Morreau, H, Breuning, MH, Wijnen, JT, Tops, CMJ, Vasen, HFA

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Childhood brain tumours due to germline bi-allelic mismatch repair gene mutations von Johannesma, PC, van der Klift, HM, van Grieken, NCT, Troost, D, te Riele, H, Jacobs, MAJM, Postma, TJ, Heideman, DAM, Tops, CMJ, Wijnen, JT, Menko, FH

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Pitfalls in molecular analysis for mismatch repair deficiency in a family with biallelic pms2 germline mutations von Leenen, CHM, Geurts-Giele, WRR, Dubbink, HJ, Reddingius, R, van den Ouweland, AM, Tops, CMJ, van de Klift, HM, Kuipers, EJ, van Leerdam, ME, Dinjens, WNM, Wagner, A

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Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP) von Nielsen, M, Franken, P F, Reinards, T H C M, Weiss, M M, Wagner, A, van der Klift, H, Kloosterman, S, Houwing-Duistermaat, J J, Aalfs, C M, Ausems, M G E M, Bröcker-Vriends, A H J T, Gomez Garcia, E B, Hoogerbrugge, N, Menko, F H, Sijmons, R H, Verhoef, S, Kuipers, E J, Morreau, H, Breuning, M H, Tops, C M J, Wijnen, J T, Vasen, H F A, Fodde, R, Hes, F J

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Mutations in SDHD are the major determinants of the clinical characteristics of Dutch head and neck paraganglioma patients: SDHD and Dutch patients with paraganglioma von Hensen, E. F., Siemers, M. D., Jansen, J. C., Corssmit, E. P. M., Romijn, J. A., Tops, C. M. J., van der Mey, A. G. L., Devilee, P., Cornelisse, C. J., Bayley, J. P., Vriends, A. H. J. T.

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Molecular genetic tests as a guide to surgical management of familial adenomatous polyposis von Vasen, HFA, van der Luijt, RB, Slors, JFM, Buskens, E, de Ruiter, P, Baeten, CGM, Schouten, WR, Oostvogel, HJM, Kuijpers, JHC, Tops, CMJ, Khan, P Meera

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Close linkage of a highly polymorphic marker (D5S37) to familial adenomatous polyposis (FAP) and confirmation of FAP localization on chromosome 5q21-q22 von MEERA KHAN, P, TOPS, C. M. J, VERSPAGET, H. M, DEN HARTOG JAGER, F. C. A, LAMERS, C. B. H. W, BROEK, M. V. D, BREUKEL, C, WIJNEN, J. T, OLDENBURG, M, BOS, J. V. D, VAN LEEUWEN-CORNELISSE, I. S. J, VASEN, H. F. A, GRIFFIOEN, G

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APC mutation in the alternatively spliced region of exon 9 associated with late onset familial adenomatous polyposis von VAN DER LUIJT, R. B, VASEN, H. F. A, TOPS, C. M. J, BREUKEL, C, FODDE, R, MEERA KHAN, P

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A new deletion polymorphism at D5S71 raises the linkage information on adenomatous polyposis coli : implications for presymptomatic diagnosis von TOPS, C. M. J, BREUKEL, C, MEERA KHAN, P, VAN DER KLIFT, H. M, LEEUWEN, I. S. J. V, WIJNEN, J. T, GRIFFIOEN, G, VASEN, H. F. A, DEN HARTOG JAGER, F. C. A, NAGENGAST, F. M, LAMERS, C. B. H. W

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Germline mutations in APC and MUTHY are responsible for the majority of families with attenuated familial adenomatous polyposis von NIELSEN, M, HES, F. J, NAGENGAST, F. M, WEISS, M. M, MATHUS-VLIEGEN, E. M, MORREAU, H, BREUNING, M. H, WIJNEN, J. T, TOPS, C. M. J, VASEN, H. F. A

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Mapping of two new markers within the smallest interval harboring the spinal muscular atrophy locus by family and radiation hybrid analysis von BRAHE, C, VELONA, I, NERI, G, VAN DER STEEGE, G, ZAPPATA, S, VAN DE VEEN, A. Y, OSINGA, J, TOPS, C. M. J, FODDE, R, KHAN, P. M, BUYS, C. H. C. M

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Presymptomatic diagnosis of familial adenomatous polyposis by bridging DNA markers von TOPS, C. M. J, GRIFFIOEN, G, MEERA KHAN, P, VASEN, H. F. A, BREUKEL, C, VAN DER KLIFT, H. M, WIJNEN, J. T, LEEUWEN, I. S. J. V, DEN HARTOG JAGER, F. C. A, NAGENGAST, F. M, LAMERS, C. B. H. W

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Non-allelic heterogeneity of familial adenomatous polyposis von Tops, Carli M. J., Van Der Klift, Heleen M., Van Der Luijt, Rob B., Griffioen, Gerrit, Taal, Babs G., Vasen, Hans F. A., Khan, P. Meera

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