Early development of respiratory rhythm generation in mice and chicks

Autor: Guimarães L, Dominquez-del-Toro E, Chatonnet F, Abadie V, Jungbluth S, Fortin G, Champagnat J

Publikováno v: Respiratory Research, Vol 2, Iss Suppl 1, p 1.1 (2001)

Externí odkaz: https://doaj.org/article/e1dda289dc674b9f84d0baeac9c64838

The use of three-dimensional reconstructions of CT scans to evaluate anomalies of hyoid bone in Pierre Robin sequence: A retrospective study

Autor: Giudice, A., Belhous, K., Barone, S., Soupre, V., Morice, A., Vazquez, M.-P., Boddeart, N., Abadie, V., Picard, A.

Publikováno v: In Journal of Stomatology oral and Maxillofacial Surgery September 2020 121(4):357-362

Immunization and multiple sclerosis: Recommendations from the French Multiple Sclerosis Society

Autor: Abadie, V., Achour, C., Ader, F., Alchaar, H., Alkhedr, A., Andreux, F., Androdias, G., Arjmand, R., Audoin, B., Audry, D., Aufauvre, D., Autreaux, C., Ayrignac, X., Bailbe, M., Benazet, M., Bensa, C., Bensmail, D., Berger, E., Bernady, P., Bertagna, Y., Biotti, D., Blanchard-Dauphin, A., Bonenfant, J., Bonnan, M., Bonnemain, B., Borgel, F., Botelho-Nevers, E., Boucly, S., Bourre, B., Boutière, C., Branger, P., Brassat, D., Bresch, S., Breuil, V., Brochet, B., Brugeilles, H., Bugnon, P., Cabre, P., Camdessanché, J.-P., Carra-Dalière, C., Casez, O., Chamouard, J.-M., Chassande, B., Chataignier, P., Chbicheb, M., Chenet, A., Ciron, J., Clavelou, P., Cohen, M., Colamarino, R., Collongues, N., Coman, I., Corail, P.-R., Courtois, S., Coustans, M., Creange, A., Creisson, E., Daluzeau, N., Davenas, C., De Seze, J., Debouverie, M., Depaz, R., Derache, N., Divio, L., Douay, X., Dulau, C., Durand-Dubief, F., Edan, G., Elias, Z., Fagniez, O., Faucher, M., Faucheux, J.-M., Fournier, M., Gagneux-Brunon, A., Gaida, P., Galli, P., Gallien, P., Gaudelus, J., Gault, D., Gayou, A., Genevray, M., Gentil, A., Gere, J., Gignoux, L., Giroux, M., Givron, P., Gout, O., Grimaud, J., Guennoc, A.-M., Hadhoum, N., Hautecoeur, P., Heinzlef, O., Jaeger, M., Jeannin, S., Kremer, L., Kwiatkowski, A., Labauge, P., Labeyrie, C., Lachaud, S., Laffont, I., Lanctin-Garcia, C., Lannoy, J., Lanotte, L., Laplaud, D., Latombe, D., Lauxerois, M., Le Page, E., Lebrun-Frenay, C., Lejeune, P., Lejoyeux, P., Lemonnier, B., Leray, E., Loche, C.-M., Louapre, C., Lubetzki, C., Maarouf, A., Mada, B., Magy, L., Maillart, E., Manchon, E., Marignier, R., Marque, P., Mathey, G., Maurousset, A., Mekies, C., Merienne, M., Michel, L., Milor, A.-M., Moisset, X., Montcuquet, A., Moreau, T., Morel, N., Moussa, M., Naudillon, J.-P., Normand, M., Olive, P., Ouallet, J.-C., Outteryck, O., Pacault, C., Papeix, C., Patry, I., Peaureaux, D., Pelletier, J., Pichon, B., Pittion, S., Planque, E., Pouget, M.-C., Pourcher, V., Radot, C., Robert, I., Rocher, F., Ruet, A., Saint-Val, C., Salle, J.-Y., Salmon, A., Sartori, E., Schaeffer, S., Stankhof, B., Taithe, F., Thouvenot, E., Tizon, C., Tourbah, A., Tourniaire, P., Vaillant, M., Vermersch, P., Vidil, S., Wahab, A., Warter, M.-H., Wiertlewski, S., Wiplosz, B., Wittwer, B., Zaenker, C., Zephir, H., Lebrun, C., Vukusic, S. ^*

Publikováno v: In Revue Neurologique June 2019 175(6):341-357

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism

Autor: Chopra, M., McEntagart, M., Clayton-Smith, J., Platzer, K., Shukla, A., Girisha, K.M., Kaur, A., Kaur, P., Pfundt, R., Veenstra-Knol, H., Mancini, G.M.S., Cappuccio, G., Brunetti-Pierri, N., Kortum, F., Hempel, M., Denecke, J., Lehman, A., Kleefstra, T., Stuurman, K.E., Wilke, M., Thompson, M.L., Bebin, E.M., Bijlsma, E.K., Hoffer, M.J.V., Peeters-Scholte, C., Slavotinek, A., Weiss, W.A., Yip, T., Hodoglugil, U., Whittle, A., Monda, J., Neira, J., Yang, S., Kirby, A., Pinz, H., Lechner, R., Sleutels, F., Helbig, I., McKeown, S., Helbig, K., Willaert, R., Juusola, J., Semotok, J., Hadonou, M., Short, J., Yachelevich, N., Lala, S., Fernandez-Jaen, A., Pelayo, J.P., Klockner, C., Kamphausen, S.B., Abou Jamra, R., Arelin, M., Innes, A.M., Niskakoski, A., Amin, S., Williams, M., Evans, J., Smithson, S., Smedley, D., Burca, A., Kini, U., Delatycki, M.B., Gallacher, L., Yeung, A., Pais, L., Field, M., Martin, E., Charles, P., Courtin, T., Keren, B., Iascone, M., Cereda, A., Poke, G., Abadie, V., Chalouhi, C., Parthasarathy, P., Halliday, B.J., Robertson, S.P., Lyonnet, S., Amiel, J., Gordon, C.T., CAUSES Study, Genomics England Res Consortium

Publikováno v: American Journal of Human Genetics, 108, 1138-1150
American Journal of Human Genetics, 108, 6, pp. 1138-1150
Am J Hum Genet
American Journal of Human Genetics, 108(6), 1138-1150. Cell Press
American Journal of Human Genetics, 108(6), 1138-1150. CELL PRESS

ANKRD17 is an ankyrin repeat-containing protein thought to play a role in cell cycle progression, whose ortholog in Drosophila functions in the Hippo pathway as a co-factor of Yorkie. Here, we delineate a neurodevelopmental disorder caused by de novo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0aad380f9aaa6b9e305df2f86f3fae1
https://doi.org/10.1016/j.ajhg.2021.04.007