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scopus: 6602962152

Spruijt, L.

(Liesbeth Spruijt)


family mutation cancer study mitochondrial partner surveillance distress netherland patient member level activity signi ficantly carrier mtdna signi haplogroup advice syndrome individual genetic control blood leber i activity protein lymphocytes neuropathy table breast family members blood lymphocytes result mitochondria risk family members ficantly concentration disease spouse support genet department worry score subject lhon mutation carriers attitude 11778 gra analysis tumor bene fits penetrance pedigree children breast cancer scale variable method dystonia rotenone sample spastic dystonia university history screening centre synthesis women respondent expression group diagnosis background enzyme 14484 trc li-fraumeni syndrome 14484 trc mutation failure sf -36 scales




7 Most Recent Publications

Distress in partners of individuals diagnosed with or at high risk of developing tumors due to rare hereditary cancer syndromes (Article)
Lammens, C.R.M. Bleiker, E.M.A. Luijt, R.B. van der Ouweland, A.M.W. van den Ruijs, M.W.G. Gundy, C. Nagtegaal, T. Aaronson, N.K. Verhoef, S. Ausems, M.G.E.M. Majoor-Krakauer, D.F. Sijmons, R.H. Hes, F.J. Gómez García, E.B. Os, T.A.M. van Spruijt, L.
2011-06-01
Regular surveillance for Li-fraumeni syndrome: advice, adherence and perceived benefits (Article)
Lammens, C.R.M. Bleiker, E.M.A. Gómez García, E.B. Cats, A. Nagtegaal, T. Verhoef, S. Aaronson, N.K. Wagner, A. Sijmons, R.H. Ausems, M.G.E.M. Vriends, A.H.J.T. Ruijs, M.W.G. Os, T.A.M. van Spruijt, L.
2010-12-01
Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation (Article)
Korsten, A. Coo, I.F.M. de Spruijt, L. Wit, L.E.A. de Smeets, H.J. Sluiter, W.
2010-02-01
Attitude towards pre-implantation genetic diagnosis for hereditary cancer (Article)
Lammens, C.R.M. Bleiker, E.M.A. Spruijt, L. Verhoef, S. Gómez García, E.B. Ruijs, M.W.G. Aaronson, N.K. Vriends, A.H.J.T. Jansweijer, M. Ausems, M.G.E.M. Wagner, A. Sijmons, R.H. Ouweland, A.M.W. van den Luijt, R.B. van der
2009-12-01
A simplified and reliable assay for complex I in human blood lymphocytes (Article)
Wit, L.E.A. de Spruijt, L. Schoonderwoerd, G.C. Coo, I.F.M. de Smeets, H.J. Scholte, H.R. Sluiter, W.
2007-09-30
Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background (Article)
Hudson, G. Carelli, V. Valentino, M.L. Huoponen, K. Savontaus, M.-L. Nikoskelainen, E. Sadun, A.A. Salomao, S.R. Belfort Jr., R. Griffiths, P. Man, P.Y.W. Coo, R.F. de Spruijt, L. Horvath, R. Zeviani, M. Smeets, H.J. Torroni, A. Chinnery, P.F. Gerards, M. Mowbray, C. Achilli, A. Pyle, A. Elson, J. Howell, N. La Morgia, C.
2007-08-01
A MELAS-associated ND1 mutation causing Leber hereditary optic neuropathy and spastic dystonia (Article)
Spruijt, L. Smeets, H.J. Hendrickx, A. Bettink-Remeijer, M.W. Maat-Kievit, A.A. Schoonderwoerd, K. Sluiter, W. Coo, I.F.M. de Hintzen, R.Q.
2007-06-01