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Number of items: 6.

Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; et al (2016). Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood, 127(25):3154-3164.

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2016). Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency-centromeric instability-facial anomalies syndrome. Nature Communications, 7:12003.

Thijssen, Peter E; Ito, Yuya; Grillo, Giacomo; Wang, Jun; Velasco, Guillaume; Nitta, Hirohisa; Unoki, Motoko; Yoshihara, Minako; Suyama, Mikita; Sun, Yu; Lemmers, Richard J L F; de Greef, Jessica C; Gennery, Andrew; Picco, Paolo; Kloeckener-Gruissem, Barbara; Güngör, Tayfun; Reisli, Ismail; Picard, Capucine; Kebaili, Kamila; Roquelaure, Bertrand; Iwai, Tsuyako; Kondo, Ikuko; Kubota, Takeo; van Ostaijen-Ten Dam, Monique M; van Tol, Maarten J D; Weemaes, Corry; Francastel, Claire; van der Maarel, Silvère M; Sasaki, Hiroyuki (2015). Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome. Nature Communications, 6:7870.

Lemoine, Roxane; Pachlopnik Schmid, Jana; Farin, Henner F; Bigorgne, Amélie; Debré, Marianne; Sepulveda, Fernando; Héritier, Sébastien; Lemale, Julie; Talbotec, Cécile; Rieux-Laucat, Frédéric; Ruemmele, Frank; Morali, Alain; Cathebras, Pascal; Nitschke, Patrick; Bole-Feysot, Christine; Blanche, Stéphane; Brousse, Nicole; Picard, Capucine; Clevers, Hans; Fischer, Alain; de Saint Basile, Geneviève (2014). Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. Journal of Allergy and Clinical Immunology, 134(6):1354-1364.e6.

Nehme, Nadine T; Pachlopnik Schmid, Jana; Debeurme, Franck; André-Schmutz, Isabelle; Lim, Annick; Nitschke, Patrick; Rieux-Laucat, Frédéric; Lutz, Patrick; Picard, Capucine; Mahlaoui, Nizar; Fischer, Alain; de Saint Basile, Geneviève (2012). MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival. Blood, 119(15):3458-3468.

Pachlopnik Schmid, Jana; Lemoine, Roxane; Nehme, Nadine; Cormier-Daire, Valéry; Revy, Patrick; Debeurme, Franck; Debré, Marianne; Nitschke, Patrick; Bole-Feysot, Christine; Legeai-Mallet, Laurence; Lim, Annick; de Villartay, Jean-Pierre; Picard, Capucine; Durandy, Anne; Fischer, Alain; de Saint Basile, Geneviève (2012). Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). Journal of Experimental Medicine, 209(13):2323-2330.

This list was generated on Thu May 23 02:48:34 2019 CEST.