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Displaying 94 of 2907 articles.
Genetic mutation helps explain why, in rare cases, flu can kill
...Years after her ordeal, which she survived, scientists led by Jean-Laurent Casanova discovered that it could be explained by a rare mutation she carries that prevented her from producing a protein, interferon, that helps fight off the virus. “This is the first example of a...
Journal of Experimental Medicine online: July 29, 2013
Tangye and Jean-Laurent Casanova
Scientists discover gene mutation that causes children to be born without spleen
...Giles lab, headed by Jean-Laurent Casanova, set out to identify the gene responsible for isolated congenital asplenia. He and his colleagues conducted an international search for patients, and identified 38 affected individuals from 23 families in North and South America, ...
Science online: April 11, 2013
Pollard, Catherine Gaud, Pierre Frange, Daniel Orbach, Jean-Francois Emile, Jean-Louis Stephan, Ricardo Sorensen, Alessandro Plebani, Lennart Hammarstrom, Mary Ellen Conley, Licia Selleri and Jean-Laurent Casanova
Journal of Experimental Medicine online: July 29, 2013
Tangye and Jean-Laurent Casanova
Proceedings of the National Academy of Sciences USA online: March 18, 2013
Proceedings of the National Academy of Sciences USA online: March 18, 2013 The human gene connectome as a map of short cuts for morbid allele discovery Yuval Itana, Shen-Ying Zhang, Guillaume Vogt, Avinash Abhyankar, Melina Herman, Patrick Nitschke, Dror Fried, Lluis Quintana-Murci, Laurent
The Journal of Experimental Medicine online: August 7, 2012
White, Laurent Abel, Shen-Ying Zhang and Jean-Laurent Casanova
Nature Immunology online: October 28, 2012
Nature Immunology online: October 28, 2012 Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency Bertrand Boisson, Emmanuel Laplantine, Carolina Prando, Silvia Giliani, Elisabeth  Israelsson, Zhaohui Xu, Avinash Abhyankar, Laura Israël, Girald...
Journal of Experimental Medicine 210: 2739-2753 (11-18-13)
...Holland, Gulbu Uzel, Jean-Laurent Casanova, Cindy S. Ma and Stuart G. Tangye
Nature online: October 28, 2012
...Daley, Laurent Abel, Jean-Laurent Casanova, Lorenz Studer and Luigi D. Notarangelo
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