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Number of items: 6.

Le Goff, C; Mahaut, C; Wang, L W; Allali, S; Abhyankar, A; Jensen, S; Zylberberg, L; Collod-Beroud, G; Bonnet, D; Alanay, Y; Brady, A F; Cordier, M P; Devriendt, K; Genevieve, D; Kiper, P Ö S; Kitoh, H; Krakow, D; Lynch, S A; Le Merrer, M; Mégarbane, A; Mortier, G; Odent, S; Polak, M; Rohrbach, M; Sillence, D; Stolte-Dijkstra, I; Superti-Furga, A; Rimoin, D L; Topouchian, V; Unger, S; Zabel, B; Bole-Feysot, C; Nitschke, P; Handford, P; Casanova, J L; Boileau, C; Apte, S S; Munnich, A; Cormier-Daire, V (2011). Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. American Journal of Human Genetics, 89(1):7-14.

Liu, L; Okada, S; Kong, X F; Kreins, A Y; Cypowyj, S; Abhyankar, A; Toubiana, J; Itan, Y; Audry, M; Nitschke, P; Masson, C; Toth, B; Flatot, J; Migaud, M; Chrabieh, M; Kochetkov, T; Bolze, A; Borghesi, A; Toulon, A; Hiller, J; Eyerich, S; Eyerich, K; Gulácsy, V; Chernyshova, L; Chernyshov, V; Bondarenko, A; Grimaldo, R M C; Blancas-Galicia, L; Beas, I M M; Roesler, J; Magdorf, K; Engelhard, D; Thumerelle, C; Burgel, P R; Hoernes, M; Drexel, B; Seger, R; Kusuma, T; Jansson, A F; Sawalle-Belohradsky, J; Belohradsky, B; Jouanguy, E; Bustamante, J; Bué, M; Karin, N; Wildbaum, G; Bodemer, C; Lortholary, O; Fischer, A; Blanche, S; Al-Muhsen, S; Reichenbach, J; Kobayashi, M; Rosales, F E; Lozano, C T; Kilic, S S; Oleastro, M; Etzioni, A; Traidl-Hoffmann, C; Renner, E D; Abel, L; Picard, C; Maródi, L; Boisson-Dupuis, S; Puel, A; Casanova, J L (2011). Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. Journal of Experimental Medicine, 208(8):1635-1648.

Audry, M; Ciancanelli, M; Yang, K; Cobat, A; Chang, H H; Sancho-Shimizu, V; Lorenzo, L; Niehues, T; Reichenbach, J; Li, X X; Israel, A; Abel, L; Casanova, J L; Zhang, S Y; Jouanguy, E; Puel, A (2011). NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus. Journal of Allergy and Clinical Immunology, 128(3):610-617.

Al-Herz, W; Bousfiha, A; Casanova, J L; Chapel, H; Conley, M E; Cunningham-Rundles, C; Etzioni, A; Fischer, A; Franco, J L; Geha, R; Hammarstrom, L; Nonoyama, S; Notarangelo, L D; Ochs, H D; Puck, J; Roifman, C M; Seger, R; Tang, M (2011). Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Frontiers in Immunology:2:54.

He, B; Santamaria, R; Xu, W; Cols, M; Chen, K; Puga, I; Shan, M; Xiong, H; Bussel, J B; Chiu, A; Puel, A; Reichenbach, J; Marodi, L; Döffinger, R; Vasconcelos, J; Issekutz, A; Krause, J; Davies, G; Li, X; Grimbacher, B; Plebani, A; Meffre, E; Picard, C; Cunningham-Rundles, C; Casanova, J L; Cerutti, A (2010). The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88. Nature Immunology, 11(9):836-845.

de Beaucoudrey, L; Puel, A; Filipe-Santos, O; Cobat, A; Ghandil, P; Chrabieh, M; Feinberg, J; von Bernuth, H; Samarina, A; Jannière, L; Fieschi, C; Stéphan, J L; Boileau, C; Lyonnet, S; Jondeau, G; Cormier-Daire, V; Le Merrer, M; Hoarau, C; Lebranchu, Y; Lortholary, O; Chandesris, M O; Tron, F; Gambineri, E; Bianchi, L; Rodriguez-Gallego, C; Zitnik, S E; Vasconcelos, J; Guedes, M; Vitor, A B; Marodi, L; Chapel, H; Reid, B; Roifman, C; Nadal, D; Reichenbach, J; Caragol, I; Garty, B Z; Dogu, F; Camcioglu, Y; Gülle, S; Sanal, O; Fischer, A; Abel, L; Stockinger, B; Picard, C; Casanova, J L (2008). Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. Journal of Experimental Medicine, 205(7):1543-1550.

This list was generated on Tue Oct 24 12:49:24 2017 CEST.