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Browsing by Author Ausems, M.G.E.M.

Full Text	Issue Date	Title	Author(s)
	2010	Association of the variants CASP8 D302H and CASP10 V410I with breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.	Engel, C.; Versmold, B.; Wappenschmidt, B.; Simard, J.; Easton, D.F., et al
	2010	Physical activity and the risk of breast cancer in BRCA1/2 mutation carriers.	Pijpe, A.; Manders, P.; Brohet, R.M.; Collee, J.M.; Verhoef, S., et al
	2010	Genetic testing in Li-Fraumeni syndrome: uptake and psychosocial consequences.	Lammens, C.R.; Aaronson, N.K.; Wagner, A.; Sijmons, R.H.; Ausems, M.G.E.M., et al
	2010	Regular surveillance for Li-Fraumeni Syndrome: advice, adherence and perceived benefits.	Lammens, C.R.; Bleiker, E.M.A.; Aaronson, N.K.; Wagner, A.; Sijmons, R.H., et al
	2010	Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction.	Antoniou, A.C.; Beesley, J.; McGuffog, L.; Sinilnikova, O.M.; Healey, S., et al
	2010	Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of Lynch syndrome patients.	Klift, H.M. van der; Tops, C.M.; Bik, E.C.; Boogaard, M.W.; Borgstein, A.M., et al
	2010	TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes.	Ruijs, M.W.; Verhoef, S.; Rookus, M.A.; Pruntel, R.; Hout, A.H. van der, et al
	2009	Chromosome 8q23.3 and 11q23.1 variants modify colorectal cancer risk in Lynch syndrome.	Wijnen, J.T.; Brohet, R.M.; Eijk, R. van; Jagmohan-Changur, S.; Middeldorp, A., et al
	2009	Attitude towards pre-implantation genetic diagnosis for hereditary cancer.	Lammens, C.; Bleiker, E.M.A.; Aaronson, N.K.; Vriends, A.H.; Ausems, M.G.E.M., et al
	2009	A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example	Mohammadi, L.; Vreeswijk, M.P.; Oldenburg, R.; Ouweland, A.M.W. van den; Oosterwijk-Wakka, J.C., et al
	2009	A method to assess the clinical significance of unclassified variants in the BRCA1 and BRCA2 genes based on cancer family history.	Gomez Garcia, E.B.; Oosterwijk-Wakka, J.C.; Timmermans, M.; Asperen, C.J. van; Hogervorst, F.B.L., et al
	2007	[DNA-based diagnosis of hereditary tumour predisposition]	Menko, F.H.; Ligtenberg, M.J.L.; Brouwer, T.; Hahn, D.E.; Ausems, M.G.E.M.
	2006	A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.	Hout, A.H. van der; Ouweland, A.M.W. van den; Luijt, R.B. van der; Gille, H.J.; Bodmer, D., et al
	2005	Multiplicity in polyp count and extracolonic manifestations in 40 Dutch patients with MYH associated polyposis coli (MAP).	Nielsen, M.; Franken, P.F.; Reinards, T.H.; Weiss, M.M.; Wagner, A., et al
	2005	Cancer risks in BRCA2 families: estimates for sites other than breast and ovary.	Asperen, C.J. van; Brohet, R.M.; Meijers-Heijboer, E.J.; Hoogerbrugge-van der Linden, N.; Verhoef, S., et al
	2004	Clinical and molecular cytogenetic studies in a case with partial trisomy 12p due to a de novo supernumerary ring chromosome.	Ausems, M.G.E.M.; Schuil, J.; Ravenswaaij-Arts, C.M.A. van; Pater, J.M. de
	1997	Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation : Clinical, biochemical and DNA analyses in a four-generation family	Ausems, M.G.E.M.; Bakker, E.; Berger, R.A.; Duran, M.; Diggelen, O.P. van, et al
	1996	Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation	Diggelen, O.P. van; Zaremba, J.; He, W.; Keulemans, J.L.M.; Boer, A.M., et al
	1996	Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II.	Ausems, M.G.E.M.; Kroos, M.A.; Kraan, M. van der; Smeitink, J.A.M.; Kleijer, W.J., et al
	1995	Glycogen storage disease type II : frequency of three common mutant alleles and their associated clinical phenotypes studies in 121 patients	Kroos, M.A.; Kraan, M. van der; Diggelen, O.P. van; Kleijer, W.J.; Reuser, A.J.J., et al