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pro vyhledávání: '"Forzano, F."'
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Akademický článek
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
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Autor:
Forzano, F, Antonova, O, Clarke, A, de Wert, G, Hentze, S, Jamshidi, Y, Moreau, Y, Perola, M, Prokopenko, I, Read, A, Reymond, A, Stefansdottir, V, van El, C, Genuardi, M, Executive Committee of the European Society of Human Genetics, Public and Professional Policy Committee of the European Society
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::e4cecdd9c0f1e30b6941814a2ccf1777
https://openaccess.sgul.ac.uk/id/eprint/113991/3/s41431-021-01000-x.pdf
https://openaccess.sgul.ac.uk/id/eprint/113991/3/s41431-021-01000-x.pdf
Autor:
Modenato, C., Kumar, K., Moreau, C., Martin-Brevet, S., Huguet, G., Schramm, C., Jean-Louis, M., Martin, C. -O., Younis, N., Tamer, P., Douard, E., Thebault-Dagher, F., Cote, V., Charlebois, A. -R., Deguire, F., Maillard, A. M., Rodriguez-Herreros, B., Pain, A., Richetin, S., Addor, M. -C., Andrieux, J., Arveiler, B., Baujat, G., Sloan-Bena, F., Belfiore, M., Bonneau, D., Bouquillon, S., Boute, O., Brusco, A., Busa, T., Caberg, J. -H., Campion, D., Colombert, V., Cordier, M. -P., David, A., Debray, F. -G., Delrue, M. -A., Doco-Fenzy, M., Dunkhase-Heinl, U., Edery, P., Fagerberg, C., Faivre, L., Forzano, F., Genevieve, D., Gerard, M., Giachino, D., Guichet, A., Guillin, O., Heron, D., Isidor, B., Jacquette, A., Jaillard, S., Journel, H., Keren, B., Lacombe, D., Lebon, S., Le Caignec, C., Lemaitre, M. -P., Lespinasse, J., Mathieu-Dramart, M., Mercier, S., Mignot, C., Missirian, C., Petit, F., Pilekaer Sorensen, K., Pinson, L., Plessis, G., Prieur, F., Raymond, A., Rooryck-Thambo, C., Rossi, M., Sanlaville, D., Schlott Kristiansen, B., Schluth-Bolard, C., Till, M., Van Haelst, M., Van Maldergem, L., 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., Olson, J. E., 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., Laguerre, K., Levy, S., Cavanagh, A. L., Llorens, A. V., Campe, K. L., Luks, T. L., Marco, E. J., Martin, S., Martin, A. J., Marzano, G., Masson, C., Mcgovern, K. E., Keehn, R. M. N., 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-Packard, B., Gallagher, A. S., Swarnakar, V., Thieu, T., Triantafallou, C., Vaughan, R., Wakahiro, M., Wallace, A., Ward, T., Wenegrat, J., Wolken, A., Melie-Garcia, L., Kushan, L., Silva, A. I., van den Bree, M. B. M., Linden, D. E. J., Owen, M. J., Hall, J., Lippe, S., Chakravarty, M., Bzdok, D., Bearden, C. E., Draganski, B., Jacquemont, S.
Publikováno v:
Translational Psychiatry, 11(1):399. Nature Publishing Group
Translational Psychiatry
Translational psychiatry, vol 11, iss 1
16p11.2 European Consortium & Simons Searchlight Consortium 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Translational psychiatry, vol. 11, no. 1, pp. 399
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
Modenato, C, Kumar, K, Moreau, C, Martin-Brevet, S, Huguet, G, Schramm, C, Jean-Louis, M, Martin, C O, Younis, N, Tamer, P, Douard, E, Thébault-Dagher, F, Côté, V, Charlebois, A R, Deguire, F, Maillard, A M, Rodriguez-Herreros, B, Pain, A, Richetin, S, 16p11.2 European Consortium, Simons Searchlight Consortium, Melie-Garcia, L, Kushan, L, Silva, A I, van den Bree, M B M, Linden, D E J, Owen, M J, Hall, J, Lippé, S, Chakravarty, M, Bzdok, D, Bearden, C E, Draganski, B, Jacquemont, S, Dunkhase-Heinl, U, Fagerberg, C, Pilekær Sørensen, K & Schlott Kristiansen, B 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Translational Psychiatry
Translational psychiatry, vol 11, iss 1
16p11.2 European Consortium & Simons Searchlight Consortium 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Translational psychiatry, vol. 11, no. 1, pp. 399
Translational Psychiatry, Vol 11, Iss 1, Pp 1-10 (2021)
Modenato, C, Kumar, K, Moreau, C, Martin-Brevet, S, Huguet, G, Schramm, C, Jean-Louis, M, Martin, C O, Younis, N, Tamer, P, Douard, E, Thébault-Dagher, F, Côté, V, Charlebois, A R, Deguire, F, Maillard, A M, Rodriguez-Herreros, B, Pain, A, Richetin, S, 16p11.2 European Consortium, Simons Searchlight Consortium, Melie-Garcia, L, Kushan, L, Silva, A I, van den Bree, M B M, Linden, D E J, Owen, M J, Hall, J, Lippé, S, Chakravarty, M, Bzdok, D, Bearden, C E, Draganski, B, Jacquemont, S, Dunkhase-Heinl, U, Fagerberg, C, Pilekær Sørensen, K & Schlott Kristiansen, B 2021, ' Effects of eight neuropsychiatric copy number variants on human brain structure ', Translational Psychiatry, vol. 11, no. 1, 399 . https://doi.org/10.1038/s41398-021-01490-9
Many copy number variants (CNVs) confer risk for the same range of neurodevelopmental symptoms and psychiatric conditions including autism and schizophrenia. Yet, to date neuroimaging studies have typically been carried out one mutation at a time, sh
Autor:
Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Maurizio, G., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Stefánsdottir, V., Ulph, F.
Publikováno v:
Forzano, F, Antonova, O, Clarke, A, de Wert, G, Hentze, S, Jamshidi, Y, Moreau, Y, Perola, M, Prokopenko, I, Read, A, Reymond, A, Stefansdottir, V, van El, C, Genuardi, M, Maurizio, G, Peterlin, B, Oliveira, C, Writzl, K, Houge, G D, Cordier, C, de Wert, G, Howard, H, Macek, M, Melegh, B, Mendes, A, Radojkovic, D, Rial-Sebbag, E, Stefánsdottir, V, Ulph, F & van El, C 2022, ' Correction: The use of polygenic risk scores in pre-implantation genetic testing: an unproven, unethical practice (European Journal of Human Genetics, (2022), 30, 5, (493-495), 10.1038/s41431-021-01000-x) ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01067-0
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3818::e2e114c673b14919c8594654eb325917
https://doi.org/10.1038/s41431-022-01067-0
https://doi.org/10.1038/s41431-022-01067-0
Autor:
Forzano, F., Antonova, O., Clarke, A., de Wert, G., Hentze, S., Jamshidi, Y., Moreau, Y., Perola, M., Prokopenko, I., Read, A., Reymond, A., Stefansdottir, V., van El, C., Genuardi, M., Peterlin, B., Oliveira, C., Writzl, K., Houge, G.D., Cordier, C., Howard, H., Macek, M., Melegh, B., Mendes, A., Radojkovic, D., Rial-Sebbag, E., Ulph, F.
Publikováno v:
Forzano, F, Antonova, O, Clarke, A, de Wert, G, Hentze, S, Jamshidi, Y, Moreau, Y, Perola, M, Prokopenko, I, Read, A, Reymond, A, Stefansdottir, V, van El, C, Genuardi, M, Genuardi, M, Peterlin, B, Oliveira, C, Writzl, K, Houge, G D, Cordier, C, Howard, H, Macek, M, Melegh, B, Mendes, A, Radojkovic, D, Rial-Sebbag, E & Ulph, F 2022, ' Correction to: Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’ (European Journal of Human Genetics, (2022), 10.1038/s41431-022-01241-4) ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-022-01263-y
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3818::0c63492c9718a41522c80e9260baf88b
https://research.manchester.ac.uk/en/publications/39ae9bd1-0ad4-4f75-b771-26d6fe119f8c
https://research.manchester.ac.uk/en/publications/39ae9bd1-0ad4-4f75-b771-26d6fe119f8c
Autor:
Russell P. Saneto, Jason S. Hauptman, Oyama N, Saitta Sc, Conti, William B. Dobyns, Gonzalez L, Sulc J, Edward J. Novotny, Jeffrey G. Ojemann, Kapur Rp, Doherty Es, Berkseth M, Jason N. Wright, Forzano F, Renzo Guerrini, Filomena Pirozzi, Seth D. Friedman, Ghayda M. Mirzaa, Andrew E. Timms, Pao E, Shear R
Focal malformations of cortical development (FMCD) including focal cortical dysplasia (FCD), hemimegalencephaly (HMEG) and megalencephaly (MEG), constitute a spectrum of neurodevelopmental disorders associated with brain overgrowth, cellular and arch
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::27206a21f1de75a906091c808d7130cf
https://doi.org/10.1101/2021.06.09.21257462
https://doi.org/10.1101/2021.06.09.21257462
Autor:
Fellmann, F., van El, C.G., Charron, P., Michaud, K., Howard, H.C., Boers, S.N., Clarke, A.J., Duguet, A.M., Forzano, F., Kauferstein, S., Kayserili, H., Lucassen, A., Mendes, Á., Patch, C., Radojkovic, D., Rial-Sebbag, E., Sheppard, M.N., Tassé, A.M., Temel, S.G., Sajantila, A., Basso, C., Wilde, AAM, Cornel, M.C.
Publikováno v:
European journal of human genetics, vol. 27, no. 12, pp. 1763-1773
Sudden cardiac death (SCD) accounts for 10-20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1900::b6a5b711cebb1f46664bdc2b5d192969
https://serval.unil.ch/resource/serval:BIB_1F50978130CD.P001/REF.pdf
https://serval.unil.ch/resource/serval:BIB_1F50978130CD.P001/REF.pdf
Autor:
Pagnamenta, A, Kaisaki, P, Bennett, F, Burkitt-Wright, E, Martin, H, Ferla, M, Taylor, J, Gompertz, L, Lahiri, N, Tatton-Brown, K, Newbury-Ecob, R, Henderson, A, Joss, S, Weber, A, Carmichael, J, Turnpenny, P, McKee, S, Forzano, F, Ashraf, T, Bradbury, K, Shears, D, Kini, U, De Burca, A, Study, The DDD, Blair, E, Stewart, H
Publikováno v:
Clinical Genetics
Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::eb3e2d121fdc789a91dfe6d6f9ef8d4b
https://doi.org/10.1111/cge.13533
https://doi.org/10.1111/cge.13533