Search Results - "Niessen, R. C."

Tumours with loss of MSH6 expression are MSI-H when screened with a pentaplex of five mononucleotide repeats by You, J-F, Buhard, O, Ligtenberg, M J L, Kets, C M, Niessen, R C, Hofstra, R M W, Wagner, A, Dinjens, W N M, Colas, C, Lascols, O, Collura, A, Flejou, J-F, Duval, A, Hamelin, R

“…Background: Microsatellite instability (MSI) is commonly screened using a panel of two mononucleotide and three dinucleotide repeats as recommended by a…”
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A novel mutation in MED12 causes FG syndrome (Opitz-Kaveggia syndrome) by Rump, P, Niessen, RC, Verbruggen, KT, Brouwer, OF, de Raad, M, Hordijk, R

“…Rump P, Niessen RC, Verbruggen KT, Brouwer OF, de Raad M, Hordijk R. A novel mutation in MED12 causes FG syndrome (Opitz–Kaveggia syndrome). Opitz–Kaveggia…”
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Identification of mismatch repair gene mutations in young patients with colorectal cancer and in patients with multiple tumours associated with hereditary non-polyposis colorectal cancer by Niessen, R C, Berends, M J W, Wu, Y, Sijmons, R H, Hollema, H, Ligtenberg, M J L, de Walle, H E K, de Vries, E G E, Karrenbeld, A, Buys, C H C M, van der Zee, A G J, Hofstra, R M W, Kleibeuker, J H

“…Background: Patients with early-onset colorectal cancer (CRC) or those with multiple tumours associated with hereditary non-polyposis colorectal cancer (HNPCC)…”
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High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability by DAVALOS, V, DOPESO, H, LEON, L, NIESSEN, R. C, KELLER, G, DALLENBACH-HELLWEG, G, ESPIN, E, ARMENGOL, M, PLAJA, A, PERUCHO, M, IMAI, K, YAMAMOTO, H, VELHO, S, GEBERT, J. F, DIAZ-CHICO, J. C, HOFSTRA, R. M, WOERNER, S. M, SERUCA, R, SCHWARTZ, S, ARANGO, D, FERREIRA, A. M, CIRNES, L, DIAZ-CHICO, N, BILBAO, C, RAMIREZ, R, RODRIGUEZ, G, FALCON, O

“…The EPH/EFN family of receptor tyrosine kinases regulates cell adhesion and migration and has an important role in controlling cell positioning in the normal…”
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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 by 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.

“…In the absence of a polyposis phenotype, colorectal cancer (CRC) patients referred for genetic testing because of early-onset disease and/or a positive family…”
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Hereditary non-polyposis colorectal cancer: identification of mutation carriers and assessing pathogenicity of mutations by Niessen, R. C., Sijmons, R. H., Berends, M. J. W., Ou, J., Hofstra, R. M. W., Kleibeuker, J. H.

“…Hereditary non-polyposis colorectal cancer (HNPCC), also referred to as Lynch syndrome, is an autosomal dominantly inherited disorder that is characterized by…”
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MUTYH and the mismatch repair system : partners in crime? by NIESSEN, Renée C, SIJMONS, Rolf H, DE BOCK, Geertruida H, BUYS, Charles H. C. M, KLEIBEUKER, Jan H, HOFSTRA, Robert M. W, OU, J, OLTHOF, Sandra G. M, OSINGA, Jan, LIGTENBERG, Marjolijn J, HOGERVORST, Frans B. L, WEISS, Marjan M, TOPS, Carli M. J, HES, Frederik J

“…Biallelic germline mutations of MUTYH-a gene encoding a base excision repair protein-are associated with an increased susceptibility of colorectal cancer…”
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BRAF-V600E is not involved in the colorectal tumorigenesis of HNPCC in patients with functional MLH1 and MSH2 genes by Domingo, Enric, Niessen, Renée C, Oliveira, Carla, Alhopuro, Pia, Moutinho, Catia, Espín, Eloi, Armengol, Manel, Sijmons, Rolf H, Kleibeuker, Jan H, Seruca, Raquel, Aaltonen, Lauri A, Imai, Kohzoh, Yamamoto, Hiroyuki, Schwartz, Jr, Simó, Hofstra, Robert M W

“…Recently, it was shown that the oncogenic activation of BRAF, a member of the RAS/RAF family of kinases, by the V600E mutation is characteristic for sporadic…”
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High EPHB2 mutation rate in gastric but not endometrial tumors with microsatellite instability by Davalos, V, Dopeso, H, Velho, S, Ferreira, A M, Cirnes, L, Diaz-Chico, N, Bilbao, C, Ramirez, R, Rodriguez, G, Falcon, O, Leon, L, Niessen, R C, Keller, G, Dallenbach-Hellweg, G, Espin, E, Armengol, M, Plaja, A, Perucho, M, Imai, K, Yamamoto, H, Gebert, J F, Diaz-Chico, J C, Hofstra, R M, Woerner, S M, Seruca, R, Schwartz Jr, S, Arango, D

“…The EPH/EFN family of receptor tyrosine kinases regulates cell adhesion and migration and has an important role in controlling cell positioning in the normal…”
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Pigmentary mosaicism following the lines of Blaschko in a girl with a double aneuploidy mosaicism: (47,XX,+7/45,X) by Niessen, Renée C., Jonkman, Marcel F., Muis, Nies, Hordijk, Roel, van Essen, Anthonie J.

“…We report on a 6‐year‐old girl with linear streaks of apparent hypopigmentation and hyperpigmentation following the Blaschko lines, growth retardation,…”
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Colorectal cancer and the CHEK2 1100delC mutation by de Jong, Mirjam M., Nolte, Ilja M., te Meerman, Gerard J., van der Graaf, Winette T. A., Mulder, Marcel J., van der Steege, Gerrit, Bruinenberg, Marcel, Schaapveld, Michael, Niessen, Renée C., Berends, Maran J. W., Sijmons, Rolf H., Hofstra, Robert M. W., de Vries, Elisabeth G. E., Kleibeuker, Jan H.

“…The CHEK2 1100delC mutation was recently identified as a low‐penetrance breast cancer susceptibility allele. The mutation occurred more frequently in families…”
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