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Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly

Autor: Kim, A., Savary, C., Dubourg, C., Carre, W., Mouden, C., Hamdi-Roze, H., Guyodo, H., Douce, J. le, Pasquier, L., Flori, E., Gonzales, M., Beneteau, C., Boute, O., Attie-Bitach, T., Roume, J., Goujon, L., Akloul, L., Odent, S., Watrin, E., Dupe, V., Tayrac, M. de, David, V., Genin, E., Campion, D., Dartigues, J.F.C.O., Deleuze, J.F., Lambert, J.C., Redon, R., Ludwig, T., Grenier-Boley, B., Letort, S., Lindenbaum, P., Meyer, V., Quenez, O., Dina, C., Bellenguez, C., Charbonnier-Le Clezio, C., Giemza, J., Chatel, S., Ferec, C., Marec, H. le, Letenneur, L., Nicolas, G., Rouault, K., Bacq, D., Boland, A., Lechner, D., Wijmenga, C., Swertz, M.A., Slagboom, P.E., Ommen, G.J.B. van, Duijn, C.M. van, Boomsma, D.I., Bakker, P.I.W. de, Bovenberg, J.A., Craen, A.J.M. de, Beekman, M., Hofman, A., Willemsen, G., Wolffenbuttel, B., Platteel, M., Y.P. du, Chen, R.Y., Cao, H.Z., Cao, R., Sun, Y.S., Cao, J.S., Dijk, F. van, Neerincx, P.B.T., Deelen, P., Dijkstra, M., Byelas, G., Kanterakis, A., Bot, J., Ye, K., Lameijer, E.W., Vermaat, M., Laros, J.F.J., Dunnen, J.T. den, Knijff, P. de, Karssen, L.C., Leeuwen, E.M. van, Amin, N., Koval, V., Rivadeneira, F., Estrada, K., Hehirkwa, J.Y., Ligt, J. de, Abdellaoui, A., Hottenga, J.J., Kattenberg, V.M., Enckevort, D. van, Mei, H., Santcroos, M., Schaik, B.D.C. van, Handsaker, R.E., McCarroll, S.A., Eichler, E.E., Ko, A., Sudmant, P., Francioli, L.C., Kloosterman, W.P., Nijman, I.J., Guryev, V., FREX Consortium, GoNL Consortium

Publikováno v: Brain, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142, 35-49. OXFORD UNIV PRESS
Kim, A, Savary, C, de Tayrac, M, David, V, FREX Consortium, Boomsma, D, Willemsen, G, Abdellaoui, A, Hottenga, J J & Kattenberg, M 2019, ' Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly ', Brain : a journal of neurology, vol. 142, no. 1, pp. 35-49 . https://doi.org/10.1093/brain/awy290
Brain : a journal of neurology, 142(1), 35-49. Oxford University Press
Brain-A Journal of Neurology, 2019, 142 (1), pp.35-49. ⟨10.1093/brain/awy290⟩
Brain, 142(1), 35. Oxford University Press

Kim et al. identify novel genes and disease pathways in the forebrain developmental disorder holoprosencephaly, and show that many cases involve oligogenic inheritance. The findings underline the roles of Sonic Hedgehog and primary cilia in forebrain

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83c33790c2c548866b2bd58ac9919bb5
https://research.rug.nl/en/publications/9c483394-6d35-4799-b37f-f2b3674e2109

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Biomimetic structures based on cyclodextrins for the decontamination of organophosphorus compounds

Autor: Gouhier, Géraldine, Cornelio, Benedetta, Letort, S., Estour, François

Publikováno v: International Symposium on Design and Synthesis of Supramolecular Architectures (8, 2016)-Youth School on Supramolecular and Coordination Chemistry (2, 2016)
International Symposium on Design and Synthesis of Supramolecular Architectures (8, 2016)-Youth School on Supramolecular and Coordination Chemistry (2, 2016), Apr 2016, Kazan, Russia

International audience

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::ee28a2a7097eaab49580ab5b0241b7ac
https://hal-normandie-univ.archives-ouvertes.fr/hal-02358033

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