Zobrazeno 1 - 10
of 547
pro vyhledávání: '"Belohradsky B"'
Autor:
Rack, A.1 anita.rack@med.uni-muenchen.de, Belohradsky, B.1 bernd.belohradsky@med.uni-muenchen.de, Grantzow, R.2 rainer.grantzow@med.uni-muenchen.de, Schweinitz, D.2 dietrich.schweinitz@med.uni-muenchen.de, Pfluger, T.3 thomas.pfluger@med.uni-muenchen.de, Kammer, B.4 birgit.kammer@med.uni-muenchen.de, Girschick, H.5 hermann.girschick@vivantes.de, Horst, D.6 david.horst@med.uni-muenchen.de, Wintergerst, U.7 uwe.wintergerst@khbr.at, Belohradsky, B H8 (AUTHOR), Schweinitz, D V9 (AUTHOR)
Publikováno v:
European Journal of Pediatrics. Jul2016, Vol. 175 Issue 7, p903-908. 6p. 2 Black and White Photographs, 1 Chart.
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:
Orange, J. S.1, Belohradsky, B. H.2, Berger, M.3, Borte, M.4, Hagan, J.5, Jolles, S.6, Wasserman, R. L.7, Baggish, J. S.3, Saunders, R.8, Grimbacher, B.9
Publikováno v:
Clinical & Experimental Immunology. Aug2012, Vol. 169 Issue 2, p172-181. 10p.
Autor:
Salzer, US, Bacchelli, C, Buckridge, S, Pan-Hammar-Strom, Q, Jennings, S, Lougaris, V, Bergbreiter, A, Hagena, T, Birmelin, J, Plebani, A, Webster, A, Peter, H, Suez, D, Chapel, H, Maclean-Tooke, A, Spickett, G, Anover-Sombke, S, Ochs, H, Urschel, S, Belohradsky, B, Ugrinovic, S, Kumararatne, D, Lawrence, T, Holm, A, Franco, J
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1064::951d498a032f210fa75287b8d6c4a4b5
https://ora.ox.ac.uk/objects/uuid:ddc03684-c32d-4f02-bdbd-6d2a002bd3ee
https://ora.ox.ac.uk/objects/uuid:ddc03684-c32d-4f02-bdbd-6d2a002bd3ee
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
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Gathmann B., Binder N., Ehl S., Kindle G., Mahlaoui N., Devergnes N., Brosselin P., Sanal O., Yegin O., Kutukculer N., Kilic S. S., Barlan I. B., Reisly I., Caracseghi F., Santos J. L., Llobet P., Carbone J., Granado L. I. G., Sanchez Ramon S., Tricas L., Matamoros N., Exley A., Kumaratne D., Alwood Z., Grimbacher B., Longhurst H., Knerr V., Bangs C., Boardman B., Tierney P., Chapel H., Notarangelo L. D., Plebani A., PIGNATA, CLAUDIO, Nickel R., Schauer U., Spath B., Caiser P., Roisler J., Bieneman K., Line R., Schubert R., El Helou S., Ritterbusch H., Goldacker S., Duckers G., Fabhauer M., Borte M., Notheis G., Belohradsky B. H., Sollinger F., Classen C. F., Apel K., Steinmann S., Muglich C., Szaflarska A., Bernatowska E., Heropolitansca E., Kuijpers T. W., van Beem R., Galal N. M., Reda S., Farber C. L., Meyts I., Velbri S., Kanariou M., Farmaki E., Papadopoulou Alataki E., Trachana M., Richter D., Blaziene A., Seidel M., Marques L., Feighery C., Cucuruz M., Konoplyannikova J., Paschenko O., Shcherbina A., Berglof A., Jardefors H., Wargstrom P., Brodszki N., Cantoni N., Dupenthaler A., Fahrni G., Hoernes M., Sahbacher U., Pasic S., Ciznar P., Jeverica A. K., Litzman J., Hlavackova E., Savchak I., Farkas H., Marodi L.
In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3730::fb433d2a6b74d41a4ba5638274f5db59
http://hdl.handle.net/11588/461322
http://hdl.handle.net/11588/461322
Autor:
Aydin, S., Freeman, A. F., Sanal, O., Al-Mousa, H., Matthes-Martin, S., Cuellar-Rodriguez, J., Hickstein, D. D., Tavil, B., Azik, F. M., Bittner, T. C., Bredius, R. G., Ayvaz, D., Kuskonmaz, B., Hoenig, M., Schulz, A., Picard, C., Barlogis, V., Gennery, A., Ifversen, M., Montfrans, J. M., Kuijpers, T. W., Dueckers, G., Al-Herz, W., Pai, S. Y., Geha, R. S., Notheis, G., Schwarze, C. P., Schuster, F., Gathmann, B., Grimbacher, B., Gaspar, B., Belohradsky, B. H., Ochs, H., Ellen Renner, Chatila, T., Engelhardt, K. R., Albert, M. H.
Publikováno v:
Journal of Clinical Immunology, 32, 127-128
Web of Science
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::367c0cdf49ac22f84461306a9846af4c
http://hdl.handle.net/1887/108370
http://hdl.handle.net/1887/108370
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