Items where Author is "Notarangelo, Luigi D."

2017

Marquardsen, Florian A. and Baldin, Fabian and Wunderer, Florian and Al-Herz, Waleed and Mikhael, Raymond and Lefranc, Gérard and Baz, Zeina and Rezaee, Fariba and Hanna, Rabi and Kfir-Erenfeld, Shlomit and Stepensky, Polina and Meyer, Benedikt and Jauch, Annaise and Bigler, Marc B. and Burgener, Anne-Valérie and Higgins, Rebecca and Navarini, Alexander A. and Church, Joeseph A. and Chou, Janet and Geha, Raif and Notarangelo, Luigi D. and Hess, Christoph and Berger, Christoph T. and Bloch, Donald B. and Recher, Mike. (2017) Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. Journal of clinical immunology, 37 (7). pp. 707-714.

Volpi, Stefano and Yamazaki, Yasuhiro and Brauer, Patrick M. and van Rooijen, Ellen and Hayashida, Atsuko and Slavotinek, Anne and Sun Kuehn, Hye and Di Rocco, Maja and Rivolta, Carlo and Bortolomai, Ileana and Du, Likun and Felgentreff, Kerstin and Ott de Bruin, Lisa and Hayashida, Kazutaka and Freedman, George and Marcovecchio, Genni Enza and Capuder, Kelly and Rath, Prisni and Luche, Nicole and Hagedorn, Elliott J. and Buoncompagni, Antonella and Royer-Bertrand, Beryl and Giliani, Silvia and Poliani, Pietro Luigi and Imberti, Luisa and Dobbs, Kerry and Poulain, Fabienne E. and Martini, Alberto and Manis, John and Linhardt, Robert J. and Bosticardo, Marita and Rosenzweig, Sergio Damian and Lee, Hane and Puck, Jennifer M. and Zúñiga-Pflücker, Juan Carlos and Zon, Leonard and Park, Pyong Woo and Superti-Furga, Andrea and Notarangelo, Luigi D.. (2017) EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay. Journal of Experimental Medicine, 214 (3). pp. 623-637.

2014

Pieper, Kathrin and Rizzi, Marta and Speletas, Matthaios and Smulski, Cristian R. and Sic, Heiko and Kraus, Helene and Salzer, Ulrich and Fiala, Gina J. and Schamel, Wolfgang W. and Lougaris, Vassilios and Plebani, Alessandro and Hammarstrom, Lennart and Recher, Mike and Germenis, Anastasios and Grimbacher, Bodo and Warnatz, Klaus and Rolink, Antonius G. and Schneider, Pascal and Notarangelo, Luigi D. and Eibel, Hermann. (2014) A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency. Journal Of Allergy And Clinical Immunology, 133 (4). pp. 1222-1225.

Bouma, Gerben and Carter, Natalie A. and Recher, Mike and Malinova, Dessislava and Adriani, Marsilio and Notarangelo, Luigi D. and Burns, Siobhan O. and Mauri, Claudia and Thrasher, Adrian J.. (2014) Exacerbated experimental arthritis in Wiskott-Aldrich syndrome protein deficiency: modulatory role of regulatory B cells. European Journal of Immunology, 44 (9). pp. 2692-2702.

Recher, Mike and Karjalainen-Lindsberg, Marja-Liisa and Lindlof, Mikael and Soderlund-Venermo, Maria and Lanzi, Gaetana and Väisänen, Elina and Kumar, Arun and Sadeghi, Mohammadreza and Berger, Christoph T. and Alitalo, Tiina and Anttila, Pekka and Kolehmainen, Maija and Franssila, Rauli and Chen, Tingting and Siitonen, Sana and Delmonte, Ottavia M. and Walter, Jolan E. and Pessach, Itai and Hess, Christoph and Simpson, Michael A. and Navarini, Alexander A. and Giliani, Silvia and Hedman, Klaus and Seppänen, Mikko and Notarangelo, Luigi D.. (2014) Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. Journal Of Allergy And Clinical Immunology, 133 (5). pp. 1462-1465.