Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Jansen, Casper"'
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:
Cohen, Yvonne, Mizusawa, Hidehiro, Sklar, Pamela, Sanjo, Nobuo, Calero, Miguel, Kraus, Theo F.J., Hultman, Christina M., Kitamoto, Tetsuyuki, De Pedro-Cuesta, Jesús, Uitterlinden, André G., Kähler, Anna, Boyd, Alison, Collins, Steven J., Zerr, Inga, Sathirapongsasuti, J. Fah, Bouaziz-Amar, Elodie, Kraaij, Robert, Minikel, Eric Vallabh, Boehnke, Michael, Poleggi, Anna, Rozemuller, Annemieke, O'Donnell-Luria, Anne H., Laplanche, Jean-Louis, Samocha, Kaitlin E., Blevins, Janis, Lek, Monkol, Brandel, Jean-Philippe, McCarroll, Steven, Hamaguchi, Tsuyoshi, Giese, Armin, Chen, Wei, MacArthur, Daniel G., Haïk, Stéphane, Van Der Lee, Sven J., Karczewski, Konrad J., Will, Robert G., Sullivan, Patrick F., Jansen, Casper, Capellari, Sabina, Zhang, Shulin, Laakso, Markku, Ikram, M. Arfan, Van Rooij, Jeroen G. J., McLean, Cory Y., Mohlke, Karen L., Estrada, Karol, Van Duijn, Cornelia M., Nakamura, Yosikazu, Tung, Joyce Y., Gambetti, Pierluigi, Hofman, Albert, Ponto, Claudia, Marshall, Jamie L., Parchi, Piero, Vallabh, Sonia M., Knight, Richard, Daly, Mark J., Chambert, Kimberly, Yamada, Masahito, Yu, Linda P. C., Purcell, Shaun M., Ladogana, Anna, Eigenbrod, Sabina
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=doi_________::b332e39bb3feac276a9fa7d9c5de4f56
Autor:
Katie Williams, Annemieke J. M. Rozemuller, Andrew G. Hughson, Casper Jansen, Piero Parchi, Bruce Chesebro, Brent Race
Publikováno v:
Acta Neuropathologica Communinications, 6(1). BioMed Central
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)
Race, B, Williams, K, Hughson, A G, Jansen, C, Parchi, P, Rozemuller, A J M & Chesebro, B 2018, ' Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein ', Acta Neuropathologica Communinications, vol. 6, no. 1, pp. 13 . https://doi.org/10.1186/s40478-018-0516-2
Acta Neuropathologica Communications
Acta Neuropathologica Communications, Vol 6, Iss 1, Pp 1-16 (2018)
Race, B, Williams, K, Hughson, A G, Jansen, C, Parchi, P, Rozemuller, A J M & Chesebro, B 2018, ' Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein ', Acta Neuropathologica Communinications, vol. 6, no. 1, pp. 13 . https://doi.org/10.1186/s40478-018-0516-2
Human familial prion diseases are associated with mutations at 34 different prion protein (PrP) amino acid residues. However, it is unclear whether infectious prions are found in all cases. Mutant PrP itself may be neurotoxic, or alternatively, PrP m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b386d67a4bca3b68ddf0b90459151cf9
https://research.vumc.nl/en/publications/b54d1200-b4e4-49e4-911b-baa5d065bbfa
https://research.vumc.nl/en/publications/b54d1200-b4e4-49e4-911b-baa5d065bbfa
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