Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Autor: Colin D. Ferrie, Johannes S H Vles, Cyril Goizet, Dominique Roland, Alec Aeby, Simon Attard Montalto, Bruce E. Hayward, Yanick J. Crow, Pierre Landrieu, Yong-hui Jiang, Stavit A. Shalev, John P McClure, Willam S Benko, Carlos A. Bacino, Kevin Rostasy, Pam Tomlin, John Dean, Andrew P. Jackson, Catherine Dery, Helen Cox, Peter Corry, John Tolmie, Daniel R. Carvalho, Sameer M. Zuberi, Sunita Seal, Bruno Barroso, Federica Vagnarelli, Margo L. Whiteford, Sally Ann Lynch, Giovanni Lanzi, Hans-Jurgen Christen, Enrico Bertini, Suzanna G.M. Frints, Gyan P Sinha, Bernhard Weschke, Amy Kao, Ken K. Nischal, Kate Chandler, Raphael Schiffmann, Ben C.J. Hamel, Simona Orcesi, Andrew Green, Blanca Gener, Pierre Lebon, Daphna Marom, R. Curtis Rogers, Gillian I. Rice, Ian M. Carr, Agnes Guet, C Sierra Corcoles, Raoul C.M. Hennekam, Sabine Scholl-Bürgi, Teresa Patrick, Claire F Taylor, Dieter Kotzot, Mary D. King, Evangeline Wassmer, Claudine De Praeter, Nathalie Van der Aa, Christopher J. Burke, Edward Blair, Wilfried Kratzer, Han G. Brunner, Marianne Till, Marie-Laure Moutard, Lieven Lagae, Adeline Vanderver, Frances M. Cowan, Andrea Leitch, Julie S. Prendiville, Didier Lacombe, Michèl A.A.P. Willemsen, E G Hermione Lyall, Thomas Voit, Rekha Parmar, John R. Østergaard, Tracy A Briggs, John H. Livingston, Doriette Soler, Andrew J. Kornberg, Marie Husson, Marjo S. van der Knaap, Francoise Goutieres, Enza Maria Valente, Arvid Heiberg, Helen Kingston, John B.P. Stephenson, Joerg Klepper, Serge B. Melançon, Peter Baxter, Amparo Sanchis, Louise Brueton, Andreas Zankl, Elisa Fazzi, Rasieka Jayatunga, David T. Bonthron, Michael J. Lyons, Stefano D'Arrigo, Uta Tacke, Elisabeth Rosser, Carsten Bergmann, Agathe Roubertie, Kim Flintoff, Ronen Spiegel, Rudy Van Coster, Roberta Biancheri, Tiong Yang Tan, Corinne De Laet, Jean Aicardi, Sarina G. Kant, Magnhild Rasmussen, Robert McWilliam, Charles Marques Lourenço, Leena D Mewasingh, Angels García-Cazorla, Rafael Artuch, Nenad Blau, Ming K. Lim

Publikováno v: American journal of human genetics, 81(4), 713-725. Cell Press
Scopus
Repositório Institucional da UNESP
Universidade Estadual Paulista (UNESP)
instacron:UNESP
American Journal of Human Genetics, 81, 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Ostergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Déry, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutières, F, Green, A J, Guët, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, Van Der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Bürgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tiong, Y T, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van Der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutières syndrome ', American journal of human genetics, vol. 81, no. 4, pp. 713-725 . https://doi.org/10.1086/521373
American Journal of Human Genetics, 81, 4, pp. 713-25
Rice, G, Patrick, T, Parmar, R, Taylor, C F, Aeby, A, Aicardi, J, Artuch, R, Montalto, S A, Bacino, C A, Barroso, B, Baxter, P, Benko, W S, Bergmann, C, Bertini, E, Biancheri, R, Blair, E M, Blau, N, Bonthron, D T, Briggs, T, Brueton, L A, Brunner, H G, Burke, C J, Carr, I M, Carvalho, D R, Chandler, K E, Christen, H-J, Corry, P C, Cowan, F M, Cox, H, D'Arrigo, S, Dean, J, De Laet, C, De Praeter, C, Dery, C, Ferrie, C D, Flintoff, K, Frints, S G M, Garcia-Cazorla, A, Gener, B, Goizet, C, Goutieres, F, Green, A J, Guet, A, Hamel, B C J, Hayward, B E, Heiberg, A, Hennekam, R C, Husson, M, Jackson, A P, Jayatunga, R, Jiang, Y-H, Kant, S G, Kao, A, King, M D, Kingston, H M, Klepper, J, van der Knaap, M S, Kornberg, A J, Kotzot, D, Kratzer, W, Lacombe, D, Lagae, L, Landrieu, P G, Lanzi, G, Leitch, A, Lim, M J, Livingston, J H, Lourenco, C M, Lyall, E G H, Lynch, S A, Lyons, M J, Marom, D, McClure, J P, McWilliam, R, Melancon, S B, Mewasingh, L D, Moutard, M-L, Nischal, K K, Østergaard, J R, Prendiville, J, Rasmussen, M, Rogers, R C, Roland, D, Rosser, E M, Rostasy, K, Roubertie, A, Sanchis, A, Schiffmann, R, Scholl-Burgi, S, Seal, S, Shalev, S A, Corcoles, C S, Sinha, G P, Soler, D, Spiegel, R, Stephenson, J B P, Tacke, U, Tan, T Y, Till, M, Tolmie, J L, Tomlin, P, Vagnarelli, F, Valente, E M, Van Coster, R N A, Van der Aa, N, Vanderver, A, Vles, J S H, Voit, T, Wassmer, E, Weschke, B, Whiteford, M L, Willemsen, M A A, Zankl, A, Zuberi, S M, Orcesi, S, Fazzi, E, Lebon, P & Crow, Y J 2007, ' Clinical and molecular phenotype of Aicardi-Goutieres syndrome. ', American Journal of Human Genetics, vol. 81, no. 4, pp. 713-25 . https://doi.org/10.1086/521373
The American journal of human genetics

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https://doi.org/10.1086/521373

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Externí odkaz: https://doaj.org/article/1ddaeb0d885f481ebf394724ac03cb10