Zobrazeno 1 - 10
of 197
pro vyhledávání: '"Lilic D"'
Autor:
Leiding, JW, Okada, S, Hagin, D, Abinun, M, Shcherbina, A, Balashov, DN, Kim, VHD, Ovadia, A, Guthery, SL, Pulsipher, M, Lilic, D, Devlin, LA, Christie, S, Depner, M, Fuchs, S, van Royen-Kerkhof, A, Lindemans, C, Petrovic, A, Sullivan, KE, Bunin, N, Kilic, SS, Arpaci, F, de la Calle-Martin, O, Martinez-Martinez, L, Aldave, JC, Kobayashi, M, Ohkawa, T, Imai, K, Iguchi, A, Roifman, CM, Gennery, AR, Slatter, M, Ochs, HD, Morio, T, Torgerson, TR, Inborn Errors Working Party, European Soc Blood Marrow, Primary Immune Deficiency
Publikováno v:
JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Background: Gain-of-function (GOF) mutations in signal transducer and activator of transcription 1 (STAT1) cause susceptibility to a range of infections, autoimmunity, immune dysregulation, and combined immunodeficiency. Disease manifestations can be
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=RECOLECTA___::1af22e603ade6f55ed89266cc666c46e
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=3954
Autor:
Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J. C., Ouachee-Chardin, M., Fouyssac, F., Girisha, K. M., Etzioni, A., Van Montfrans, J., Camcioglu, Y., Kerns, L. A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E. D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F. L., Traidl-Hoffmann, C., Picard, C., Marodi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J. D., Holland, S., Casanova, J. -L., Puel A, Cypowyj S, Thumerelle C, Toulon A, Bustamante J, Tahuil N, SALHI, DALILA, Boiu S, Chopra C, Di Giovanni D, Bezrodnik L, Boutros J, Thomas C, Lacuesta G, Jannier S, Korganow AS, Paillard C, Boutboul, Bué M, Marie-Cardine A, Bayart S, Migaud M, Weiss, Karmochkine M, Garcia-Martinez JM, Stephan JL, Bensaid P, Jeannoel GP, Witte T, Baumann U, Harrer T, Navarrete C, ACOSTA HUGHES, BENJAMIN, Firinu, Pignata C, Picco P, Mendoza D, Lugo Reyes SO, Torres Lozano C, Ortega-Cisneros M, Cortina M, Mesdaghi M, Nabavi M, Español T, Martínez-Saavedra MT, Rezaei N, Zoghi S, Pac M, Barlogis V, Revon-Rivière G, Haimi-Cohen Y, Spiegel R, Miron D, Bouchaib J, Blancas-Galicia L, Toth B, Drexel B, Rohrlich PS, Lesens O, Hoernes M, Drewe E, Abinum M, Sawalle-Belohradsky J, Kindle G, Depner M, Milani L, Nikopensius T, Remm M, Talas UG, Tucker M, Willis M, Leonard S, Meuwissen H, Ferdman RM, CORBO UGULINO, WALLACE, Desai MM, Taur P, Badolato R, Soltesz B, Schnopp C, Jansson AF, Ayvaz D, Shabashova N, Chernyshova L, Bondarenko A, Moshous D, Neven B, Boubidi C, Ailal F, Giardino G, Del Giacco S, Bougnoux ME, Imai K, Okawa T, Mizoguchi Y, Ozaki Y, Takeuchi M, Hayakawa A, Lögering B, Reich K, Buhl T, Eyerich K, Schaller M, Arkwright PD, Gennery AR, Cant AJ, Warris A, Henriet S, Mekki N, Barbouche R, Ben Mustapha I, Bodemer, Polak M, Grimprel E, Burgel PR, Fischer A, Hermine O, Debré M, Kocacyk D, Dhalla F, Patel SY, Moens L, Haerynck F, Dullaers, Hoste L, Sanal O, Kilic SS, Roesler J, Lanternier F, Lortholary O, Fieschi C, Church JA, Roifman C, Yuenyongviwat A, Peterson P, Boisson-Dupuis S, Abel L, Marciano BE, Netea MG.
Publikováno v:
Blood, 127(25), 3154. American Society of Hematology
Blood, 127, 3154-64
Blood, 127, 25, pp. 3154-64
Blood, 127, 3154-64
Blood, 127, 25, pp. 3154-64
Contains fulltext : 172671.pdf (Publisher’s version ) (Closed access) Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c6a3b7f9c5e0b02e255e53b51e0bb9d0
https://doi.org/10.1182/blood-2015-11-679902
https://doi.org/10.1182/blood-2015-11-679902
Autor:
Toubiana, J., Okada, S., Hiller, J., Oleastro, M., Lagos Gomez, M., Aldave Becerra, J.C., Ouachée-Chardin, M., Fouyssac, F., Girisha, K.M., Etzioni, A., van Montfrans, J., Camcioglu, Y., Kerns, L.A., Belohradsky, B., Blanche, S., Bousfiha, A., Rodriguez-Gallego, C., Meyts, I., Kisand, K., Reichenbach, J., Renner, E.D., Rosenzweig, S., Grimbacher, B., van de Veerdonk, F.L., Traidl-Hoffmann, C., Picard, C., Maródi, L., Morio, T., Kobayashi, M., Lilic, D., Milner, J.D., Holland, S., Casanova, J.L., Puel, A.
Publikováno v:
Blood 127, 3154-3164 (2016)
Since their discovery in patients with autosomal dominant (AD) chronic mucocutaneous candidiasis (CMC) in 2011, heterozygous STAT1 gain-of-function (GOF) mutations have increasingly been identified worldwide. The clinical spectrum associated with the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3474::0e5dc122096e491615629e67e3dbc705
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48558
https://push-zb.helmholtz-muenchen.de/frontdoor.php?source_opus=48558
Publikováno v:
Clinical & Experimental Immunology. Aug1996, Vol. 105 Issue 2, p213-219. 7p.
Publikováno v:
Clinical & Experimental Immunology. Aug1996, Vol. 105 Issue 2, p205-212. 8p.
Publikováno v:
Clinical & Experimental Dermatology. Dec2009, Vol. 34 Issue 8, pe818-e820. 3p. 2 Color Photographs, 1 Diagram, 1 Chart.
Autor:
Fernandes, Jf, Rocha, V, Labopin, M, Neven, B, Moshous, D, Gennery, Ar, Friedrich, W, Porta, F, Diaz de Heredia, C, Wall, D, Bertrand, Y, Veys, P, Slatter, M, Schulz, A, Chan, Kw, Grimley, M, Ayas, M, Gungor, T, Ebell, W, Bonfim, C, Kalwak, K, Taupin, P, Blanche, S, Gaspar, Hb, Landais, P, Fischer, A, Gluckman, E, Cavazzana Calvo, M, Eurocord, Inborn Errors Working Party of European Group for Blood, Marrow Transplantation: Ahmed, A, Auiti, A, Biffi, A, Cant, A, Fasth, A, Gennery, A, Hassan, A, Lankester, A, O'Mera, A, Plabani, A, Rovelli, A, Salmon, A, Scarselli, A, Thrasher, A, Van Royen, A, Villa, A, Wawer, A, Wahadneh, A, Worth, A, Belohradsky, B, Wolska, B, Gaspar, B, Bonfirm, C, Booth, C, Klein, C, Messina, C, Peters, C, Steward, C, Lindemans, C, Schuetz, C, de Heredia Rubio CD, Bensoussan, D, Gleadow, D, Lilic, D, Gambineri, Eleonora, Smith, E, Aerts, F, Caracseghi, F, Roberts, G, Davies, G, Al Mousa, H, Jossanc, H, Ozsahim, H, Hirsch, I, Meyts, I, Tezcan, I, Mueller, I, Andresc, I, Boelens, J, Fernandes, J, Folloni, J, Keuhl, J, Reichenbach, J, Stary, J, Wachowiak, J, Xu Bayford, J, Cunha, Jm, Ehlert, J, Rao, K, Sykora, K, Andais, L, Brown, L, Dal Cortivo, L, Griffith, L, Notarangelo, L, Abinun, M, Albert, M, Bierings, M, Bouchet, M, Cavazzana, M, Hirschfield, M, Cowan, M, Hoenig, M, Loubser, M, Roncarolo, M, Sauer, M, Schneider, M, Verstegen, M, Schroeder, M, Essink, M, Yesilipek, M, Entz Werle, N, Mahlaoui, N, Schlautmann, N, Taylor, N, Vanroyen, N, Walffraat, N, Sanal, O, Amrolia, P, Bordigoni, P, De Coppi, P, Frange, P, Orchard, P, Sedlacek, P, Shaw, P, Stephensky, P, Bacchetta, R, Bredius, R, Formankova, R, Gale, R, Seger, R, Wynn, R, Corbacioglu, S, Ehl, S, Hacein Bey, S, Hambleton, S, Mohsen, S, Mueller, S, Pai, Sy, Espanol, T, Flood, T, Guengoer, T, Bordon, V, Ormoor, V, Pashano, V, Courteille, V, Czogala, W, Qasim, W, Camci, Y, Nademi, Z.
Publikováno v:
Blood, 119(12), 2949-2955
Pediatric patients with SCID constitute medical emergencies. In the absence of an HLA-identical hematopoietic stem cell (HSC) donor, mismatched related-donor transplantation (MMRDT) or unrelated-donor umbilical cord blood transplantation (UCBT) are v
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dec6b3b56c93759ab790c3b03bb80968
https://hdl.handle.net/1887/98304
https://hdl.handle.net/1887/98304
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