نتائج البحث - "Charbonnier, L.-M."

1

دورية أكاديمية

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

المؤلفون: Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernandez, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, S., Leahy, T. R., Van Hagen, M., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., Chua, I., Hague, R., Klemann, C., Kostyuchenko, L., Morio, T., Thatayatikom, A., Ozen, A., Scherbina, A., Bauer, C. S., Flanagan, S. E., Gambineri, E., Giovannini-Chami, Lisa, Heimall, J., Sullivan, K. E., Allenspach, E., Romberg, N., Deane, S. G., Prince, B. T., Rose, M., Bohnsack, J., Mousallem, T., Jesudas, R., Dos Santos Vilela, M. M., O'sullivan, M., Schmid, J. P., Průhová, Š., Rees, M., Su, H., Bahna, S., Baris, S., Bartnikas, L. M., Chang Berger, A., Briggs, T. A., Brothers, S., Bundy, V., Chan, A. Y., Chandrakasan, S., Christiansen, M., Cole, T., Cook, M. C., Desai, M. M., Fischer, U., Fulcher, D. A., Gallo, S., Gauthier, A., Gennery, A. R., Marques, J. G., Gottrand, fréderic, Grimbacher, B., Grunebaum, E., Haapaniemi, E., Hämäläinen, S., Heiskanen, K., Heiskanen-Kosma, T., Hoffman, H. M., Gonzalez-Granado, L. I., Guerreiro, A. L., Kainulainen, L., Kumar, A., Lawrence, M. G., Levin, C., Martelius, T., Neth, O., Olbrich, P., Palma, A., Patel, N. C., Pozos, T., Preece, K., Lugo Reyes, S. O., Russell, M. A., Schejter, Y., Seroogy, C., Sinclair, J., Skevofilax, E., Suan, D., Suegeorgz, D., Szabolcs, P., Velasco, H., Warnatz, K., Walkovich, K., Worth, A., Seppänen, M. R. J., Torgerson, T. R., Sogkas, G., Ehl, S., Tangye, S. G., Cooper, M. A., Milner, J. D., Forbes Satter, L. R., Aleshkevich, S., Allende, L. M., Atkinson, T. P., Atschekzei, F., Aydemir, S., Aygunes, U., Barlogis, V., Baumann, U., Belko, J., Bezrodnik, L., Biebl, A., Broderick, L., Bunin, N. J., Caldirola, M. S., Castelle, M., Celmeli, F., Charbonnier, L. M., Chatila, T. A., Chellapandian, D., Cokugras, H., Conlon, N., Cox, F., Crickx, E., Dalgic, B., Dalm, V. A., Danielian, S., Dominguez-Pinilla, N., Dujovny, T., Ebbo, M., Eken, A., Esty, B., Fabre, A., Fischer, A., Hannibal, M., Huppert, L., Ikeda, M. D., Jolles, S., Jolly, K. W., Jones, N., Kakakukcu, M., Kanariou, M., Karakoc-Aydiner, E., Karamantziani, T., Kelaidi, C., Keogan, M., Kisaarslan, A. P., Kiykim, A., Klocperk, A., Kotsonis, K., Kuzmenko, N., Leroy, S., Lesmana, H., Lianou, D., Longhurst, H., Lorenz, M. R., Maffucci, P., Manson, A., Marchal, S., Malphettes, M., Marega, L. F., Mauracher, A. A., Meesilpavikai, K., Miller, H., Mombourquette, J., Morgan, N. G., Mukhina, A., Nathalie, A., Nelken, B., Nolan, D., Norlin, A. C., Oleastro, M., Ozcan, A., Pasquet, M., Pegler, J. R., Picard, C., Polychronopoulou, S., Quartier, P., Ramakers, J., Randall, K. L., Rao, V. K., Remiker, A., Resin, G., Richmond, P., Rieux-Laucat, F., Rodina, Y., Rohrlich, P., Sachs, J., Sakovich, I., Santarlas, C., Sari, S., Sawicki, G., Schauer, U., Scheffler Mendoza, S. C., Schvetz, O., Schmidt, R. E., Schwarz, K., Sediva, A., Sinclair, K., Slatter, M., Sleasman, J., Stergiou, K., Suratannon, N., Tanita, K., Thompson, G., Travis, S., Trojan, T., Tsinti, M., Unal, E., Urdinez, L., Vazquez-Gomez, F., Villa, M., Weinrich, M., Weiss, M. J., Wright, B., Yilmaz, E., Zachova, R., Zhang, Y., Quesada, J. F.

المساهمون: Université de Lille, Inserm, CHU Lille, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Centre Hospitalier Universitaire de Nice CHU Nice, Institute for Translational Research in Inflammation - U 1286 INFINITE (Ex-Liric)

مصطلحات موضوعية: STAT3, gain of function, lymphoproliferation, cytopenia, autoimmunity, immune dysregulation, immunodeficiency, precision medicine

وصف الملف: application/octet-stream

العلاقة: Journal of Allergy and Clinical Immunology; J Allergy Clin Immunol; http://hdl.handle.net/20.500.12210/100723Test

الإتاحة: https://doi.org/20.500.12210/100723Test
https://hdl.handle.net/20.500.12210/100723Test

View record in BASE

2

دورية أكاديمية

Eros Mutations: Decreased Nadph Oxidase Function and Chronic Granulomatous Disease

المؤلفون: Thomas, DC, Charbonnier, L-M, Schejtman, A, Aldhekri, H, Coomber, EL, Dufficy, ER, Beenken, AE, Lee, JC, Clare, S, Speak, AO, Thrasher, AJ, Santilli, G, Al-Mousa, H, Alkuraya, FS, Chatila, TA, Smith, KGC

المصدر: Journal of Allergy and Clinical Immunology , 143 (2) , Article e1. (2019)

مصطلحات موضوعية: C17ORF62, CYBC1, Chronic granulomatous disease, EROS, Nox2, gp91phox

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10059013/1/1-s2.0-S0091674918314234-main.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10059013Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10059013/1/1-s2.0-S0091674918314234-main.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10059013Test/

View record in BASE

3

دورية أكاديمية

Monogenic Early-Onset Lymphoproliferation and Autoimmunity: The Natural History of STAT3 GOF Syndrome.

المؤلفون: Leiding, J. W., Vogel, T. P., Santarlas, V. G. J., Mhaskar, R., Smith, M. R., Carisey, A., Vargas-Hernandez, A., Silva-Carmona, M., Heeg, M., Rensing-Ehl, A., Neven, Bénédicte, Hadjadj, Jérôme, Hambleton, S., Leahy, T. R., van Hagen, M., Cunningham-Rundles, C., Dutmer, C. M., Sharapova, S. O., Taskinen, M., Chua, I., Hague, R., Klemann, C., Kostyuchenko, L., Morio, T., Thatayatikom, A., Ozen, A., Scherbina, A., Bauer, C. S., Flanagan, S. E., Gambineri, E., Giovannini-Chami, Lisa, Heimall, J., Sullivan, K. E., Allenspach, E., Romberg, N., Deane, S. G., Prince, B. T., Rose, M., Bohnsack, J., Mousallem, T., Jesudas, R., dos Santos Vilela, M. M., O'Sullivan, M., Schmid, J. P., Průhová, Š., Rees, M., Su, H., Bahna, S., Baris, S., Bartnikas, L. M., Chang Berger, A., Briggs, T. A., Brothers, S., Bundy, V., Chan, A. Y., Chandrakasan, S., Christiansen, M., Cole, T., Cook, M. C., Desai, M. M., Fischer, U., Fulcher, D. A., Gallo, S., Gauthier, A., Gennery, A. R., Marques, J. G., Gottrand, Fréderic, Grimbacher, B., Grunebaum, E., Haapaniemi, E., Hämäläinen, S., Heiskanen, K., Heiskanen-Kosma, T., Hoffman, H. M., Gonzalez-Granado, L. I., Guerreiro, A. L., Kainulainen, L., Kumar, A., Lawrence, M. G., Levin, C., Martelius, T., Neth, O., Olbrich, P., Palma, A., Patel, N. C., Pozos, T., Preece, K., Lugo Reyes, S. O., Russell, M. A., Schejter, Y., Seroogy, C., Sinclair, J., Skevofilax, E., Suan, D., Suegeorgz, D., Szabolcs, P., Velasco, H., Warnatz, K., Walkovich, K., Worth, A., Seppänen, M. R. J., Torgerson, T. R., Sogkas, G., Ehl, S., Tangye, S. G., Cooper, M. A., Milner, J. D., Forbes Satter, L. R., Aleshkevich, S., Allende, L. M., Atkinson, T. P., Atschekzei, F., Aydemir, S., Aygunes, U., Barlogis, V., Baumann, U., Belko, J., Bezrodnik, L., Biebl, A., Broderick, L., Bunin, N. J., Caldirola, M. S., Castelle, M., Celmeli, F., Charbonnier, L. M., Chatila, T. A., Chellapandian, D., Cokugras, H., Conlon, N., Cox, F., Crickx, E., Dalgic, B., Dalm, V. A., Danielian, S., Dominguez-Pinilla, N., Dujovny, T., Ebbo, M., Eken, A., Esty, B., Fabre, A., Fischer, A., Hannibal, M., Huppert, L., Ikeda, M. D., Jolles, S., Jolly, K. W., Jones, N., Kakakukcu, M., Kanariou, M., Karakoc-Aydiner, E., Karamantziani, T., Kelaidi, C., Keogan, M., Kisaarslan, A. P., Kiykim, A., Klocperk, A., Kotsonis, K., Kuzmenko, N., Leroy, S., Lesmana, H., Lianou, D., Longhurst, H., Lorenz, M. R., Maffucci, P., Manson, A., Marchal, S., Malphettes, M., Marega, L. F., Mauracher, A. A., Meesilpavikai, K., Miller, H., Mombourquette, J., Morgan, N. G., Mukhina, A., Nathalie, A., Nelken, B., Nolan, D., Norlin, A. C., Oleastro, M., Ozcan, A., Pasquet, M., Pegler, J. R., Picard, C., Polychronopoulou, S., Quartier, P., Ramakers, J., Randall, K. L., Rao, V. K., Remiker, A., Resin, G., Richmond, P., Rieux-Laucat, F., Rodina, Y., Rohrlich, P., Sachs, J., Sakovich, I., Santarlas, C., Sari, S., Sawicki, G., Schauer, U., Scheffler Mendoza, S. C., Schvetz, O., Schmidt, R. E., Schwarz, K., Sediva, A., Sinclair, K., Slatter, M., Sleasman, J., Stergiou, K., Suratannon, N., Tanita, K., Thompson, G., Travis, S., Trojan, T., Tsinti, M., Unal, E., Urdinez, L., Vazquez-Gomez, F., Villa, M., Weinrich, M., Weiss, M. J., Wright, B., Yilmaz, E., Zachova, R., Zhang, Y., Quesada, J. F.

المساهمون: Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Centre Hospitalier Universitaire de Nice (CHU Nice), Institute for Translational Research in Inflammation - U 1286 (INFINITE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire CHU Lille (CHRU Lille)

المصدر: ISSN: 0091-6749 ; Journal of Allergy and Clinical Immunology ; https://hal.univ-lille.fr/hal-04515114Test ; Journal of Allergy and Clinical Immunology, 2022, Journal of Allergy and Clinical Immunology, 151, pp.1081-1095. ⟨10.1016/j.jaci.2022.09.002⟩.

مصطلحات موضوعية: STAT3, gain of function, lymphoproliferation, cytopenia, autoimmunity, immune dysregulation, immunodeficiency, precision medicine, [SDV]Life Sciences [q-bio]