Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Zeynep H. Coban-Akdemir"'
Autor:
Emily M. Mace, Carl E. Allen, R. Helen Rouce, Asbjørg Stray-Pedersen, Jordan S. Orange, Shalini N. Jhangiani, Olive S. Eckstein, Kenneth L. McClain, M. Cecilia Poli, Ivan K. Chinn, Hey Chong, Nmazuo W. Ozuah, Jason W. Caldwell, Lisa R. Forbes, Erin C. Peckham-Gregory, Tiphanie P. Vogel, Nader Kim El-Mallawany, Juan C. Aldave-Becerra, Joseph Lubega, Jennifer E. Agrusa, Helen E. Heslop, Zeynep H. Coban-Akdemir, James R. Lupski, Francesco Saettini, Nicholas L. Rider, Stephen Jolles, Natalia S. Chaimowitz, Donna M. Muzny, Richard A. Gibbs, Kala Y. Kamdar, Nitya Gulati
Publikováno v:
J Allergy Clin Immunol
Background Pediatric nonmalignant lymphoproliferative disorders (PLPDs) are clinically and genetically heterogeneous. Long-standing immune dysregulation and lymphoproliferation in children may be life-threatening, and a paucity of data exists to guid
Autor:
Lucia Daxinger, Maria Iascone, Fred H. Rodriguez, Monique M van Oostaijen-Ten Dam, Ivan K. Chinn, Julio C Orellana, Rocco Piazza, Sonia Bonanomi, Daniele Moratto, Zeynep H. Coban-Akdemir, Wilma G. M. Kroes, Jaime Vengoechea, Manuel Quadri, Claire Booth, Valentina Jarur-Chamy, Frank Baas, Serena Gasperini, Grazia Fazio, Andrea Biondi, Loreani P Noguera, James R. Lupski, Maja Vukic, Gianni Cazzaniga, Giuseppe Gaipa, Francesco Saettini, Raffaele Badolato, Cecilia Poli, Mario Mauri, Marissa R. Shams, Elizabeth Rivers, Cristina Bugarin, Bo Yuan, Amairelys Barroeta Seijas, Silvère M. van der Maarel
Publikováno v:
Blood
Blood, 137(4), 493-499. AMER SOC HEMATOLOGY
Blood, 137(4), 493-499. AMER SOC HEMATOLOGY
Agammaglobulinemia is the most profound primary antibody deficiency that can occur due to an early termination of B-cell development. We here investigated 3 novel patients, including the first known adult, from unrelated families with agammaglobuline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00d8309ae1906c292dfeed4dba4e0454
http://hdl.handle.net/10281/301708
http://hdl.handle.net/10281/301708
Autor:
Immacolata Brigida, Lamberto Torralba-Raga, Radovan Dvorsky, Silvia Di Cesare, Andrea Finocchi, AnnaCarin Horne, Ivan K. Chinn, Serena Scala, Simone Martinelli, Antonia Pascarella, Asbjørg Stray-Pedersen, Erika Zara, Marco Tartaglia, Emily M. Mace, Franco Locatelli, Luca Pannone, Stefano Levi Mortera, Claudia Bracaglia, Giusi Prencipe, Mohammad Akbarzadeh, Paolo Palma, Petra Janning, Anna Pastore, Rita Carsetti, Mohammad Reza Ahmadian, Fabrizio De Benedetti, Michael R. Diehl, Petra Netter, Shalini N. Jhangiani, Richard A. Gibbs, Caterina Cancrini, Tram N. Cao, James R. Lupski, Alexandre F. Carisey, Vittorio Rosti, Pietro Merli, Alessandro Aiuti, Zeynep H. Coban-Akdemir, Donna M. Muzny, Yenan T. Bryceson, Francesca Pantaleoni, Martina Di Rocco, Serena Camerini, Marcello Niceta, Virginia Messia, Cristina Cifaldi, Marcel Buchholzer, Andrea Ciolfi, Michael T. Lam, Hans Christian Erichsen, Antonella Insalaco, Kim Ramme, Oliver H.F. Krumbach, Francesca Conti, Luca Basso-Ricci, Simona Coppola, Jordan S. Orange, Maria Chiriaco, Lorenza Putignani, Luciapia Farina
Publikováno v:
Journal of Experimental Medicine
The Journal of Experimental Medicine
The Journal of Experimental Medicine
Lam et al. characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42. The authors use in silico, in vitro, and in vivo analyses to correlate the molecular mechanisms altering CDC42 function to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b31838d698a101a082dacfe29d539025
http://hdl.handle.net/10852/75483
http://hdl.handle.net/10852/75483
Autor:
Jordan S. Orange, Juan C. Aldave-Becerra, Aghiad Chamdin, Robert A. Krance, Lisa R. Forbes, Sarah K. Nicholas, Erin C. Peckham-Gregory, Asbjørg Stray-Pedersen, Maria I. Diaz, Tram N. Cao, Shalini N. Jhangiani, Jordana Goldman, Trung C. Nguyen, Baruch R. Goldberg, M. Cecilia Poli, Ivan K. Chinn, Richard A. Gibbs, Waleed Al-Herz, Sean A. McGhee, Luis A. Pedroza, Tiphanie P. Vogel, Helen E. Heslop, Emily M. Mace, Diana N. Hong, Carl E. Allen, Zeynep H. Coban-Akdemir, Olive S. Eckstein, Donna M. Muzny, Caridad Martinez, James R. Lupski, Dalia Bashir, Kenneth L. McClain, Harshal Abhyankar
Publikováno v:
Blood. 132(1)
The HLH-2004 criteria are used to diagnose hemophagocytic lymphohistiocytosis (HLH), yet concern exists for their misapplication, resulting in suboptimal treatment of some patients. We sought to define the genomic spectrum and associated outcomes of