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variant tsc 1 patient tsc 1 variants wild-type tsc 2 variants substitution factor embryo cv risk factors study analysis wild-type tsc 1 signal figure change rheb ϫ/ϫ embryos tsc 2 mutation protein wild-type tsc 1–tsc treatment acid substitutions hypertensive patients sclerosis tuberou population prevalence risk factors t 389/s ratio database tuberous sclerosis hypertension effect l 117p variants tsc 1 function control level phosphorylation nellist 1–tsc ratio disease function l 50p table activity hypertensive number assay assessment region italian tsc 2 lovd missense genetic 389/ expression result e 11.5 embryos van den ouweland netherlands mcjm sturkenboom netherland italy genet dutch prediction page number tsc 1-tsc citation purposes antihypertensive mouse l 50p variant rheb ϫ/ϫ mefs individual t 389/s ratios development n-terminal nellist m italian population
4 Most Recent Publications
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Rheb is essential for murine development
(Article)
Goorden, S.M.I. Hoogeveen-Westerveld, M. Cheng, C. Woerden, G.M. van Mozaffari, E. Post, L. Duckers, H.J. Nellist, M.D. Elgersma, Y. |
2011-04-01
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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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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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Prevalence and treatment of hypertensive patients with multiple concomitant cardiovascular risk factors in The Netherlands and Italy
(Article)
Sturkenboom, M.C.J.M. Dieleman, J.P. Picelli, G. Mazzaglia, G. Mozaffari, E. Filippi, A. Cricelli, C. Lei, J. van der |
2008-08-01
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