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Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Autor: D'Angelo, D., Lebon, S., Chen, Q., Martin-Brevet, S., Snyder, L. G., Hippolyte, L., Hanson, E., Maillard, A. M., Faucett, W. A., Mace, A., Pain, A., Bernier, R., Chawner, S. J. R. A., David, A., Andrieux, J., Aylward, E., Baujat, G., Caldeira, I., Conus, P., Ferrari, C., Forzano, F., Gerard, M., Goin-Kochel, R. P., Grant, E., Hunter, J. V., Isidor, B., Jacquette, A., Jonch, A. E., Keren, B., Lacombe, D., Le Caignec, C., Martin, C. L., Mannik, K., Metspalu, A., Mignot, C., Mukherjee, P., Owen, M. J., Passeggeri, M., Rooryck-Thambo, C., Rosenfeld, J. A., Spence, S. J., Steinman, K. J., Tjernagel, J., Van Haelst, M., Shen, Y., Draganski, B., Sherr, E. H., Ledbetter, D. H., van den Bree, M. B. M., Beckmann, J. S., Spiro, J. E., Reymond, A., Jacquemont, S., Chung, W. K., Knoers, N. V. A. M., Martinet, D., Belfiore, M., Cuvellier, J. -C., Devries, B., Delrue, M. -A., Doco-Fenzy, M., Lebel, R., Leheup, B., Lewis, S., Mencarelli, M. A., Minet, J. -C., Vincent-Delorme, C., Moerman, A., Mucciolo, M., Ounap, K., Rajcan-Separovic, E., Renieri, A., Sanlaville, D., Faas, B. H., Koolen, D. A., Vulto-Van Silfhout, A., de Leeuw, N., Rosanfeld, J. A., Filges, I., Achatz, E., Roetzer, K. M., Bonneau, D., Guichet, A., Lazaro, L., Plessis, G., Kroisel, P. M., Reis, A., Jonveaux, P., Chantot-Bastaraud, S., Rauch, A., Demeer, B., Nordgren, A., Labalme, A., Ferrarini, A., Ramelli, G. P., Guilmatre, A., Joly-Helas, G., Haize, S., Layet, V., Le Gallic, S., de Freminville, B., Touraine, R., Van Binsbergen, E., Mathieu-Dramard, M., Barth, M., Blaumeiser, B., Masurel, A., Cailler, P., Olivier-Faivre, L., Malacarne, M., Coutton, C., Dieterich, K., Satre, V., Wallgren-Pettersson, C., Tensgrom, C., Kaksonen, S., Duban-Bedu, B., Holder, M., Rossi, M., Gaillard, D., Bock, D., Bednarek, N., Guillin, O., Bizzarri, V., Flori, E., Silengo, M., Kooy, R. F., Aboura, A., Beri, M., Delobel, B., Drunat, S., Jaros, Z., Kolk, A., Reigo, A., Zufferey, F., Beckmann, N., Faravelli, F., Alupay, H., Aaronson, B., Ackerman, S., Ankenman, K., Anwar, A., Atwell, C., Bowe, A., Beaudet, A. L., Benedetti, M., Berg, J., Berman, J., Berry, L. N., Bibb, A. L., Blaskey, L., Brennan, J., Brewton, C. M., Buckner, R., Bukshpun, P., Burko, J., Cali, P., Cerban, B., Chang, Y., Cheong, M., Chow, V., Chu, Z., Chudnovskaya, D., Cornew, L., Dale, C., Dell, J., Dempsey, A. G., Deschamps, T., Earl, R., Edgar, J., Elgin, J., Endre, J., Evans, Y. L., Findlay, A., Fischbach, G. D., Fisk, C., Fregeau, B., Gaetz, B., Gaetz, L., Garza, S., Gerdts, J., Glenn, O., Gobuty, S. E., Golembski, R., Greenup, M., Heiken, K., Hines, K., Hinkley, L., Jackson, F. I., Jenkins, J., Jeremy, R. J., Johnson, K., Kanne, S. M., Kessler, S., Khan, S. Y., Ku, M., Kuschner, E., Laakman, A. L., Lam, P., Lasala, M. W., Lee, H., La, K., Levy, S., Lian, A., Llorens, A. V., Loftus, K., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M., Miller, D. T., Miller, F. K., Moss, T. J., Murray, R., Nagarajan, S. S., Nowell, K. P., Owen, J., Paal, A. M., Packer, A., Page, P. Z., Paul, B. M., Peters, A., Peterson, D., Poduri, A., Pojman, N. J., Porche, K., Proud, M. B., Qasmieh, S., Ramocki, M. B., Reilly, B., Roberts, T. P. L., Shaw, D., Sinha, T., Smith, B., Snow, A., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A.

Publikováno v: JAMA psychiatry
Cardiff University Experiences of Children With Copy Number Variants (ECHO) Study 2016, ' Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities ', JAMA Psychiatry, vol. 73, no. 1, pp. 20-30 . https://doi.org/10.1001/jamapsychiatry.2015.2123
JAMA PSYCHIATRY
JAMA psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 1, pp. 20-30
JAMA Psychiatry
Jama Psychiatry, vol. 73, no. 1, pp. 20-30
JAMA Psychiatry, 73(1), 20. American Medical Association
JAMA Psychiatry, 73(1), 20-30. American Medical Association
JAMA Psychiatry, 73, 20-30

Contains fulltext : 167711.pdf (Publisher’s version ) (Closed access) IMPORTANCE: The 16p11.2 BP4-BP5 duplication is the copy number variant most frequently associated with autism spectrum disorder (ASD), schizophrenia, and comorbidities such as de

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::221714038bda1846e56d6e2e8e45f87a
http://archpsyc.jamanetwork.com/article.aspx?articleid=2471269

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The 2018 Lake Louise Acute Mountain Sickness Score

Autor: Roach, Rc1, Hackett, Ph1, Oelz, O2, Bärtsch, P3, Luks, Am4, Macinnis, Mj5, Baillie, Jk, Achatz, E, Albert, E, Andrews, Js, Anholm, Jd, Ashraf, Mz, Auerbach, P, Basnyat, B, Beidleman, Ba, Berendsen, Rr, Berger, Mm, Bloch, Ke, Brugger, H, Cogo, A, Costa, Rg, Cumpstey, A, Cymerman, A, Debevec, T, Duncan, C, Dubowitz, D, Fago, A, Furian, M, Gaidica, M, Ganguli, P, Grocott, Mpw, Hammer, D, Hall, D, Hillebrandt, D, Hilty, Mp, Himashree, G, Honigman, B, Gilbert-Kawai, N, Kayser, B, Keyes, L, Koehle, M, Kohli, S, Kuenzel, A, Levine, Bd, Lichtblau, M, Macdonald, J, Maeder, Mb, Maggiorini, M, MARTIN BOHADA, Juan Dario, Masuyama, S, Mccall, J, Mcintosh, S, Millet, G, Moraga, F, Mounsey, C, Muza, Sr, Oliver, S, Pasha, Q, Paterson, R, Phillips, L, Pichon, A, Pickerodt, Pa, Pun, M, Rain, M, Rennie, D, Ri-Li, G, Roy, S, Verges, S, Dos Santos TBC, Schoene, Rb, Schoch, Od, Singh, S, Sooronbaev, T, Steinback, Cd, Stembridge, M, Stewart, G, Stobdan, T, Strapazzon, G, Subudhi, Aw, Swenson, E, Roger Thompson AA, van Patot MT, Twomey, R, Ulrich, S, Voituron, N, Wagner, Dr, Wang, Sh, West, Jb, Wilkes, M, Willmann, G, Yaron, M, Zafren, K.

Publikováno v: Roach, R C, Hackett, P H, Oelz, O, Bärtsch, P, Luks, A M, Macinnis, M J, Baillie, J K & Lake Louise AMS Score Consensus Committee 2018, ' The 2018 lake louise acute mountain sickness score ', High Altitude Medicine and Biology, vol. 19, no. 1, pp. 4-6 . https://doi.org/10.1089/ham.2017.0164
Roach, R C, Hackett, P H, Oelz, O, Bärtsch, P, Luks, A M & MacInnis, M J & Baillie, J K 2018, ' The 2018 Lake Louise Acute Mountain Sickness Score ', High Altitude Medicine & Biology, vol. 19, no. 1, pp. 4-6 . https://doi.org/10.1089/ham.2017.0164

Roach, Robert C., Peter H. Hackett, Oswald Oelz, Peter Bärtsch, Andrew M. Luks, Martin J. MacInnis, J. Kenneth Baillie, and The Lake Louise AMS Score Consensus Committee. The 2018 Lake Louise Acute Mountain Sickness Score. High Alt Med Biol 19:1–4

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76d6290cec8a19b0781018b693dfa9bc

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