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pro vyhledávání: '"M.J.A. van Kempen"'
Akademický článek
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Autor:
Grazia M.S. Mancini, Cacha M.P.C.D. Peeters-Scholte, Paul B. Augustijn, Dick Lindhout, Eva H. Brilstra, A I Kistemaker, M.J.A. van Kempen, H A Newman, Oebele F. Brouwer, Katherine L. Helbig, Rinze F. Neuteboom, Marjolein Kriek, Bobby P. C. Koeleman, Patrick Rump, Yvonne J. Vos, I M de Lange, K. Hodges, Nine V A M Knoers
Publikováno v:
Neurogenetics, 18(3), 147-153. SPRINGER
neurogenetics, 18(3), 147-153
Neurogenetics
Neurogenetics, 18(3), 147. Springer Verlag
Neurogenetics, 18(3), 147-153. Springer-Verlag
neurogenetics, 18(3), 147-153
Neurogenetics
Neurogenetics, 18(3), 147. Springer Verlag
Neurogenetics, 18(3), 147-153. Springer-Verlag
Pathogenic variants in the PCDH19 gene are associated with epilepsy, intellectual disability (ID) and behavioural disturbances. Only heterozygous females and mosaic males are affected, likely due to a disease mechanism named cellular interference. Un
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a554e3716d9f3a84abb0166073ce0be3
https://research.rug.nl/en/publications/3dd56f82-3354-47f4-b279-a897bf99d84e
https://research.rug.nl/en/publications/3dd56f82-3354-47f4-b279-a897bf99d84e
Autor:
Willem F. M. Arts, Dick Lindhout, P. De Jonghe, Katia Hardies, J. F. de Rijk-van Andel, Eva H. Brilstra, András Fogarasi, J. J. T. van Harssel, M. V. de Jonge, Anna Jansen, W. B. Gunning, Arvid Suls, Nienke E. Verbeek, M.J.A. van Kempen, E. van Daalen, Helene Verhelst, R. Vermeulen, Sarah Weckhuysen, Anna Kelemen, C. G. F. de Kovel, Bobby P. C. Koeleman
Publikováno v:
van Harssel, J J T, Weckhuysen, S, van Kempen, M J A, Hardies, K, Verbeek, N E, de Kovel, C G F, Gunning, W B, van Daalen, E, de Jonge, M V, Jansen, A C, Vermeulen, R J, Arts, W F M, Verhelst, H, Fogarasi, A, de Rijk-van Andel, J, Kelemen, A, Lindhout, D, De Jonghe, P, Koeleman, B P C, Suls, A & Brilstra, E H 2013, ' Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders ', Neurogenetics, vol. 14, no. 1, pp. 23-34 . https://doi.org/10.1007/s10048-013-0353-1
Vrije Universiteit Brussel
Neurogenetics, 14(1), 23-34. Springer-Verlag
Neurogenetics
Neurogenetics, 14(1), 23-34. Springer Verlag
Vrije Universiteit Brussel
Neurogenetics, 14(1), 23-34. Springer-Verlag
Neurogenetics
Neurogenetics, 14(1), 23-34. Springer Verlag
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transm
Autor:
F.E.J. Coenjaerts, Brenda R. Kwak, Marc Chanson, Marc Bacchetta, Lucile Miquerol, Isabelle Roth, Zhihong Yang, T. A. B. van Veen, Urban Deutsch, Christos Chadjichristos, Habo J. Jongsma, M.J.A. van Kempen, M. Z. Richani Sarieddine, Tecla Dudez, K.E.L. Scheckenbach, Hema Viswambharan, Bernard Foglia, C. de Wit
Publikováno v:
Circulation
Circulation, 2010, 121 (1), pp.123-131. ⟨10.1161/CIRCULATIONAHA.109.867176⟩
Circulation, American Heart Association, 2010, 121 (1), pp.123-131
Circulation, Vol. 121, No 1 (2010) pp. 123-131
Circulation, 2010, 121 (1), pp.123-131. ⟨10.1161/CIRCULATIONAHA.109.867176⟩
Circulation, American Heart Association, 2010, 121 (1), pp.123-131
Circulation, Vol. 121, No 1 (2010) pp. 123-131
Background— Endothelial dysfunction is the initiating event of atherosclerosis. The expression of connexin40 (Cx40), an endothelial gap junction protein, is decreased during atherogenesis. In the present report, we sought to determine whether Cx40
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bc33fba1a1aaaf799eda2172df5013a
https://hal.science/hal-00566980
https://hal.science/hal-00566980
Autor:
E. E. Verheijck, Habo J. Jongsma, Lennart N. Bouman, M Veereschild, M.J.A. van Kempen, J Lurvink
Publikováno v:
Cardiovascular research, 52(1), 40-50. Oxford University Press
Objective: The sinoatrial (SA) node consists of a relatively small number of poorly coupled cells. It is not well understood how these pacemaker cells drive the surrounding atrium and at the same time are protected from its hyperpolarizing influence.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::77d8aeeaf1388fcfcacceaa704d59c06
https://pure.amc.nl/en/publications/electrophysiological-features-of-the-mouse-sinoatrial-node-in-relation-to-connexin-distribution(2c48d0c6-4d58-41e2-800c-e147d44ffa69).html
https://pure.amc.nl/en/publications/electrophysiological-features-of-the-mouse-sinoatrial-node-in-relation-to-connexin-distribution(2c48d0c6-4d58-41e2-800c-e147d44ffa69).html
Autor:
Habo J. Jongsma, M.J.A. van Kempen
Publikováno v:
Histochemistry and cell biology. 112(6)
Intercellular communication between cells of the vessel wall is established by a combination of diffusion and convection of humoral and endothelial factors in the extracellular fluid or by direct intercellular contacts present in the form of gap junc
Autor:
H.V.M. (Harold) van Rijen, D. Gros, Martin B. Rook, Habo J. Jongsma, A. C. G. Van Ginneken, M.J.A. van Kempen, L. Analbers
Publikováno v:
The American journal of physiology. 272(1 Pt 1)
We investigated the expression pattern of gap junctional proteins (connexins, Cx) in situ and in vitro and their functional characteristics in cultured human umbilical vein endothelial cells (HUVEC) and cultured human umbilical artery endothelial cel
Autor:
Habo J. Jongsma, T. Jarry-Guichard, D. Gros, I. Ten Velde, Antoon F.M. Moorman, M.J.A. van Kempen, B. Delorme, Jean-Paul Briand, M. Théveniau, Bernard Maro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5bbbfa64d1a0d48938529a435af6cc5
https://doi.org/10.1016/b978-0-444-81929-1.50039-3
https://doi.org/10.1016/b978-0-444-81929-1.50039-3
Autor:
Christos Chadjichristos, Brenda R. Kwak, T. A. B. van Veen, M.J.A. van Kempen, U. Deutsch, C. de Wit, Isabelle Roth, B. Hoepfl
Publikováno v:
Vascular Pharmacology. 45:e90
Akademický článek
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