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variant cancer patient tsc 1 colorectal colorectal cancer mutation protein tsc 1 variants polyposi tsc 2 variants substitution analysis wild-type mutyh tsc 2 wild-type tsc 1 signal control change figure database mutyh-associated control patients tuberin hamartin wild-type tsc 1–tsc survival tuberou sclerosis acid substitutions study genetic effect domain table t 389/s ratio university assay nellist mutyh-associated polyposis function l 117p variants result tsc 1 function region tuberous sclerosis repair 1–tsc missense ratio genet department l 50p transcript stage assessment tsc 2 lovd n-terminal tumor 389/ phosphorylation sampson jr van den ouweland diagnosis netherland coiled-coil activity mutyh variants colon citation purposes page number prediction level sampson expression leiden information isoform individual
5 Most Recent Publications
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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex
(Article)
Hoogeveen-Westerveld, M. Wentink, M. Bergoffen, J. Shashi, V. Elmslie, F. Kwiatkowski, D. Sampson, J. Vidales, C. Dzarir, J. Garcia-Planells, J. Dies, K. Maat-Kievit, A.A. Heuvel, D. van den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M. Mozaffari, E. Ekong, R. Povey, S. Dunnen, J.T. den Metcalfe, K. Vallee, S. Krueger, S. |
2011-04-01
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Survival of MUTYH-associated polyposis patients with colorectal cancer and matched control colorectal cancer patients
(Article)
Nielsen, M. Steenbergen, L.N. van Hes, F.J. Jones, N. Vogt, S. Vasen, H.F. Morreau, H. Aretz, S. Sampson, J. Dekkers, O.M. Janssen-Heijnen, M.L.G. |
2010-11-01
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Reproducibility, accuracy, and predictors of accuracy for the detection of coronary atherosclerotic plaque composition by computed tomography: An ex vivo comparison to intravascular ultrasound
(Article)
Out, A.A. Tops, C.M.J. Fostira, F. Franken, P.F. Gaustadnes, M. Heinimann, K. Hodgson, S.V. Hogervorst, F.B.L. Holinski-Feder, E. Lagerstedt, K. Olschwang, S. Ouweland, A.M.W. van den Nielsen, M. Redeker, E.J.W. Scott, R.J. Vankeirsbilck, B. Gronlund, R.V. Wijnen, J.T. Wikman, F.P. Aretz, S. Sampson, J. Devilee, P. Dunnen, J.T. den Weiss, M.M. Hes, F.J. Minderhout, I.J.H.M. van Fokkema, I.F.A.C. Buisine, M-P. Claes, K. Colas, C. Fodde, R. |
2010-11-01
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Identification of a region required for TSC1 stability by functional analysis of TSC1 missense mutations found in individuals with tuberous sclerosis complex
(Article)
Mozaffari, E. Hoogeveen-Westerveld, M. Kwiatkowski, D. Sampson, J. Ekong, R. Povey, S. Dunnen, J.T. den Ouweland, A.M.W. van den Halley, D.J.J. Nellist, M.D. |
2009-09-11
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Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products
(Article)
Nellist, M.D. Nagelkerken, B. Cheadle, J. Snell, R. Sampson, J. Sluijs, P. van der Halley, D.J.J. Ouweland, A.M.W. van den Reuser, A.J.J. Slegtenhorst, M.A. van |
1998-01-01
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