Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Jansen, Casper"'
Autor:
Diack AB, Ritchie DL, Peden AH, Brown D, Boyle A, Morabito L, Maclennan D, Burgoyne P, Jansen C, Knight RS, Piccardo P, Ironside JW, Manson JC
Publikováno v:
Emerging infectious diseases [Emerg Infect Dis] 2014 Dec; Vol. 20 (12), pp. 1969-79.
Autor:
Bratosiewicz-Wąsik J; Department and Institute of Microbiology and Virology, Medical University of Silesia, Katowice, Poland. jbrat@sum.edu.pl, Smoleń-Dzirba J, Rozemuller AJ, Jansen C, Spliet W, Jansen GH, Wąsik TJ, Liberski PP
Publikováno v:
Prion [Prion] 2012 Sep-Oct; Vol. 6 (4), pp. 413-6. Date of Electronic Publication: 2012 Aug 16.
Autor:
Bratosiewicz-Wąsik J; Department and Institute of Microbiology and Virology, Medical University of Silesia, Katowice, Poland. jbrat@sum.edu.pl, Smoleń-Dzirba J, Watała C, Rozemuller AJ, Jansen C, Spliet W, Jansen GH, Wąsik TJ, Liberski PP
Publikováno v:
Folia neuropathologica [Folia Neuropathol] 2012; Vol. 50 (1), pp. 68-73.
Autor:
Jansen C; Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Utrecht, the Netherlands. c.jansen@umcutrecht.nl, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ
Publikováno v:
Journal of neuropathology and experimental neurology [J Neuropathol Exp Neurol] 2011 Aug; Vol. 70 (8), pp. 698-702.
Autor:
Jansen C; Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, Heidelberglaan 100, 3584 CX, Utrecht, The Netherlands. c.jansen@umcutrecht.nl, Voet W, Head MW, Parchi P, Yull H, Verrips A, Wesseling P, Meulstee J, Baas F, van Gool WA, Ironside JW, Rozemuller AJ
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2011 Jan; Vol. 121 (1), pp. 59-68. Date of Electronic Publication: 2010 Mar 03.
Autor:
Jansen C; Dutch Surveillance Centre for Prion Diseases, University Medical Centre Utrecht, 3584 CX Utrecht, The Netherlands. c.jansen@umcutrecht.nl, Parchi P, Capellari S, Vermeij AJ, Corrado P, Baas F, Strammiello R, van Gool WA, van Swieten JC, Rozemuller AJ
Publikováno v:
Acta neuropathologica [Acta Neuropathol] 2010 Feb; Vol. 119 (2), pp. 189-97. Date of Electronic Publication: 2009 Nov 13.
Autor:
Minikel, Eric Vallabh, Vallabh, Sonia M., Lek, Monkol, Estrada, Karol, Samocha, Kaitlin E., Sathirapongsasuti, J. Fah, McLean, Cory Y., Tung, Joyce Y., Yu, Linda P.C., Gambetti, Pierluigi, Blevins, Janis, Zhang, Shulin, Cohen, Yvonne, Chen, Wei, Yamada, Masahito, Hamaguchi, Tsuyoshi, Sanjo, Nobuo, Mizusawa, Hidehiro, Nakamura, Yosikazu, Kitamoto, Tetsuyuki, Collins, Steven J., Boyd, Alison, Will, Robert G., Knight, Richard, Ponto, Claudia, Zerr, Inga, Kraus, Theo F.J., Eigenbrod, Sabina, Giese, Armin, Calero, Miguel, de Pedro-Cuesta, Jesús, Haïk, Stéphane, Laplanche, Jean-Louis, Bouaziz-Amar, Elodie, Brandel, Jean-Philippe, Capellari, Sabina, Parchi, Piero, Poleggi, Anna, Ladogana, Anna, O'Donnell-Luria, Anne H., Karczewski, Konrad J., Marshall, Jamie L., Boehnke, Michael, Laakso, Markku, Mohlke, Karen L., Kähler, Anna, Chambert, Kimberly, McCarroll, Steven, Sullivan, Patrick F., Hultman, Christina M., Purcell, Shaun M., Sklar, Pamela, van der Lee, Sven J., Rozemuller, Annemieke, Jansen, Casper, Hofman, Albert, Kraaij, Robert, van Rooij, Jeroen G.J., Ikram, M. Arfan, Uitterlinden, André G., van Duijn, Cornelia M., Daly, Mark J., MacArthur, Daniel G.
More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance - the probability that a carrier of the purported disease-causing genotype will indeed develop the disease - is generally unknown. Here we assess
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::50bda88ba0709477ca81fe0407596e97
https://europepmc.org/articles/PMC4774245/
https://europepmc.org/articles/PMC4774245/
Autor:
Sabina Capellari, André G. Uitterlinden, M. Arfan Ikram, Anna Poleggi, Wei Chen, Alison Boyd, Konrad J. Karczewski, Steven A. McCarroll, Sven J. van der Lee, Steven J. Collins, Sabina Eigenbrod, Jamie L. Marshall, Annemieke J. M. Rozemuller, Karen L. Mohlke, Pamela Sklar, Mark J. Daly, Richard Knight, Miguel Calero, Markku Laakso, Robert Kraaij, Sonia M Vallabh, Cornelia M. van Duijn, Tetsuyuki Kitamoto, Jean Philippe Brandel, Daniel G. MacArthur, Stéphane Haïk, Pierluigi Gambetti, Kaitlin E. Samocha, Monkol Lek, Casper Jansen, Kimberly Chambert, Shaun Purcell, Anna K. Kähler, Michael Boehnke, Piero Parchi, Karol Estrada, Claudia Ponto, Linda P.C. Yu, Nobuo Sanjo, Jeroen van Rooij, Anna Ladogana, Hidehiro Mizusawa, Joyce Y. Tung, Yvonne Cohen, Shulin Na Zhang, Janis Blevins, Christina M. Hultman, Masahito Yamada, Elodie Bouaziz-Amar, Anne H. O’Donnell-Luria, Yosikazu Nakamura, Cory Y. McLean, Inga Zerr, Armin Giese, Albert Hofman, Patrick F. Sullivan, Jean-Louis Laplanche, Eric Vallabh Minikel, Jesús de Pedro-Cuesta, Robert G. Will, J. Fah Sathirapongsasuti, Theo F. J. Kraus, Tsuyoshi Hamaguchi
Publikováno v:
Science Translational Medicine, 8(322):322ra9. American Association for the Advancement of Science
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169
Science Translational Medicine, 8(322). American Association for the Advancement of Science
Minikel, E V, Vallabh, S M, Lek, M, Estrada, K, Samocha, K E, Sathirapongsasuti, J F, McLean, C Y, Tung, J Y, Yu, L P C, Gambetti, P, Blevins, J, Zhang, S, Cohen, Y, Chen, W, Yamada, M, Hamaguchi, T, Sanjo, N, Mizusawa, H, Nakamura, Y, Kitamoto, T, Collins, S J, Boyd, A, Will, R G, Knight, R, Ponto, C, Zerr, I, Kraus, T F J, Eigenbrod, S, Giese, A, Calero, M, De Pedro-Cuesta, J, Haïk, S, Laplanche, J L, Bouaziz-Amar, E, Brandel, J P, Capellari, S, Parchi, P, Poleggi, A, Ladogana, A, O'Donnell-Luria, A H, Karczewski, K J, Marshall, J L, Boehnke, M, Laakso, M, Mohlke, K L, Kähler, A, Chambert, K, McCarroll, S, Sullivan, P F, Hultman, C M, Purcell, S M, Sklar, P, Van Der Lee, S J, Rozemuller, A, Jansen, C, Hofman, A, Kraaij, R, Van Rooij, J G J, Ikram, M A, Uitterlinden, A G, van Duijn, C M, Daly, M J & MacArthur, D G 2016, ' Quantifying prion disease penetrance using large population control cohorts ', Science Translational Medicine, vol. 8, no. 322, 322ra9 . https://doi.org/10.1126/scitranslmed.aad5169
More than 100,000 genetic variants are reported to cause Mendelian disease in humans, but the penetrance-the probability that a carrier of the purported disease-causing genotype will indeed develop the disease-is generally unknown. We assess the impa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345ca3279c0849399b5f2fe8df6626b2
http://hdl.handle.net/10044/1/56240
http://hdl.handle.net/10044/1/56240