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	81.	Chronic Intestinal Pseudo-Obstruction and Lymphoproliferative Syndrome as a Novel Phenotype Associated With Tetratricopeptide Repeat Domain 7A Deficiency. [electronic resource] by El-Daher, Marie-Thérèse Lemale, Julie Bruneau, Julie Leveau, Claire Guerin, Frédéric Lambert, Nathalie Diana, Jean-Sébastien Neven, Bénédicte Sepulveda, Fernando E Coulomb-L'Hermine, Aurore Molina, Thierry Picard, Capucine Fischer, Alain de Saint Basile, Geneviève Producer: 20200928 In: Frontiers in immunology vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	82.	Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation. [electronic resource] by Vogt, Guillaume Bustamante, Jacinta Chapgier, Ariane Feinberg, Jacqueline Boisson Dupuis, Stephanie Picard, Capucine Mahlaoui, Nizar Gineau, Laure Alcaïs, Alexandre Lamaze, Christophe Puck, Jennifer M de Saint Basile, Geneviève Khayat, Claudia Djambas Mikhael, Raymond Casanova, Jean-Laurent Producer: 20080819 In: The Journal of experimental medicine vol. 205 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	83.	Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). [electronic resource] by Feldmann, Jérôme Callebaut, Isabelle Raposo, Graça Certain, Stéphanie Bacq, Delphine Dumont, Cécile Lambert, Nathalie Ouachée-Chardin, Marie Chedeville, Gaëlle Tamary, Hannah Minard-Colin, Véronique Vilmer, Etienne Blanche, Stéphane Le Deist, Françoise Fischer, Alain de Saint Basile, Geneviève Producer: 20040123 In: Cell vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	84.	Genotype, phenotype, and outcomes of nine patients with T-B+NK+ SCID. [electronic resource] by Yu, Grace P Nadeau, Kari C Berk, David R de Saint Basile, Geneviève Lambert, Nathalie Knapnougel, Perrine Roberts, Joseph Kavanau, Kristina Dunn, Elizabeth Stiehm, E Richard Lewis, David B Umetsu, Dale T Puck, Jennifer M Cowan, Morton J Producer: 20120305 In: Pediatric transplantation vol. 15 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	85.	Tetratricopeptide repeat domain 7A is a nuclear factor that modulates transcription and chromatin structure. [electronic resource] by El-Daher, Marie-Therese Cagnard, Nicolas Gil, Marine Da Cruz, Marie Chansel Leveau, Claire Sepulveda, Fernando Zarhrate, Mohammed Tores, Frédéric Legoix, Patricia Baulande, Sylvain de Villartay, Jean Pierre Almouzni, Geneviève Quivy, Jean-Pierre Fischer, Alain de Saint Basile, Geneviève Publication details: Cell discovery 2018 In: Cell discovery vol. 4 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	86.	Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. [electronic resource] by Neven, Bénédicte Callebaut, Isabelle Prieur, Anne-Marie Feldmann, Jérôme Bodemer, Christine Lepore, Loredana Derfalvi, Beata Benjaponpitak, Suata Vesely, Richard Sauvain, Marie Jose Oertle, Stefan Allen, Roger Morgan, Gareth Borkhardt, Arndt Hill, Clare Gardner-Medwin, Janet Fischer, Alain de Saint Basile, Geneviève Producer: 20040511 In: Blood vol. 103 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	87.	A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis. [electronic resource] by Grandin, Virginie Sepulveda, Fernando E Lambert, Nathalie Al Zahrani, Mofareh Al Idrissi, Eman Al-Mousa, Hamoud Almanjomi, Fahd Al-Ghonaium, Abdulaziz K Habazi, Murad A Alghamdi, Hamza Picard, Capucine Bole-Feysot, Christine Nitschke, Patrick Ménasché, Gaël de Saint Basile, Geneviève Producer: 20180510 In: Human mutation vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	88.	Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency. [electronic resource] by Laffort, Caroline Le Deist, Françoise Favre, Michel Caillat-Zucman, Sophie Radford-Weiss, Isabelle Debré, Marianne Fraitag, Sylvie Blanche, Stéphane Cavazzana-Calvo, Marina de Saint Basile, Geneviève de Villartay, Jean Pierre Giliani, Silvia Orth, Gérard Casanova, Jean Laurent Bodemer, Christine Fischer, Alain Producer: 20040713 In: Lancet (London, England) vol. 363 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	89.	Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome"). [electronic resource] by 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 Producer: 20130225 In: The Journal of experimental medicine vol. 209 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	90.	Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency. [electronic resource] by Fuchs, Sebastian Rensing-Ehl, Anne Erlacher, Miriam Vraetz, Thomas Hartjes, Lara Janda, Ales Rizzi, Marta Lorenz, Myriam R Gilmour, Kimberly de Saint-Basile, Geneviève Roifman, Chaim M Cheuk, Steven Gennery, Andrew Thrasher, Adrian J Fuchs, Ilka Schwarz, Klaus Speckmann, Carsten Ehl, Stephan Producer: 20141210 In: European journal of immunology vol. 44 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	91.	First use of thymus transplantation therapy for FOXN1 deficiency (nude/SCID): a report of 2 cases. [electronic resource] by Markert, M Louise Marques, José G Neven, Bénédicte Devlin, Blythe H McCarthy, Elizabeth A Chinn, Ivan K Albuquerque, Adriana S Silva, Susana L Pignata, Claudio de Saint Basile, Geneviève Victorino, Rui M Picard, Capucine Debre, Marianne Mahlaoui, Nizar Fischer, Alain Sousa, Ana E Producer: 20110223 In: Blood vol. 117 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	92.	Failure of SCID-X1 gene therapy in older patients. [electronic resource] by Thrasher, Adrian J Hacein-Bey-Abina, Salima Gaspar, H Bobby Blanche, Stephane Davies, E Graham Parsley, Kathryn Gilmour, Kimberly King, Douglas Howe, Steven Sinclair, Joanna Hue, Christophe Carlier, Frédérique von Kalle, Christof de Saint Basile, Geneviève le Deist, Françoise Fischer, Alain Cavazzana-Calvo, Marina Producer: 20050712 In: Blood vol. 105 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	93.	Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency. [electronic resource] by Neven, Bénédicte Leroy, Sandrine Decaluwe, Hélène Le Deist, Francoise Picard, Capucine Moshous, Despina Mahlaoui, Nizar Debré, Marianne Casanova, Jean-Laurent Dal Cortivo, Liliane Madec, Yoann Hacein-Bey-Abina, Salima de Saint Basile, Geneviève de Villartay, Jean-Pierre Blanche, Stéphane Cavazzana-Calvo, Marina Fischer, Alain Producer: 20090508 In: Blood vol. 113 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	94.	Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. [electronic resource] by Côte, Marjorie Ménager, Mickaël M Burgess, Agathe Mahlaoui, Nizar Picard, Capucine Schaffner, Catherine Al-Manjomi, Fahad Al-Harbi, Musa Alangari, Abdullah Le Deist, Françoise Gennery, Andrew R Prince, Nathalie Cariou, Astrid Nitschke, Patrick Blank, Ulrich El-Ghazali, Gehad Ménasché, Gaël Latour, Sylvain Fischer, Alain de Saint Basile, Geneviève Producer: 20100111 In: The Journal of clinical investigation vol. 119 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	95.	Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency. [electronic resource] by 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 Producer: 20150206 In: The Journal of allergy and clinical immunology vol. 134 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	96.	TTC7A mutations disrupt intestinal epithelial apicobasal polarity. [electronic resource] by Bigorgne, Amélie E Farin, Henner F Lemoine, Roxane Mahlaoui, Nizar Lambert, Nathalie Gil, Marine Schulz, Ansgar Philippet, Pierre Schlesser, Patrick Abrahamsen, Tore G Oymar, Knut Davies, E Graham Ellingsen, Christian Lycke Leteurtre, Emmanuelle Moreau-Massart, Brigitte Berrebi, Dominique Bole-Feysot, Christine Nischke, Patrick Brousse, Nicole Fischer, Alain Clevers, Hans de Saint Basile, Geneviève Producer: 20140303 In: The Journal of clinical investigation vol. 124 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	97.	Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations. [electronic resource] by Besnard, Caroline Levy, Eva Aladjidi, Nathalie Stolzenberg, Marie-Claude Magerus-Chatinet, Aude Alibeu, Olivier Nitschke, Patrick Blanche, Stéphane Hermine, Olivier Jeziorski, Eric Landman-Parker, Judith Leverger, Guy Mahlaoui, Nizar Michel, Gérard Pellier, Isabelle Suarez, Felipe Thuret, Isabelle de Saint-Basile, Geneviève Picard, Capucine Fischer, Alain Neven, Bénédicte Rieux-Laucat, Frédéric Quartier, Pierre Producer: 20190422 In: Clinical immunology (Orlando, Fla.) vol. 188 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	98.	Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model. [electronic resource] by Ruemmele, Frank M Müller, Thomas Schiefermeier, Natalia Ebner, Hannes L Lechner, Silvia Pfaller, Kristian Thöni, Cornelia E Goulet, Olivier Lacaille, Florence Schmitz, Jacques Colomb, Virginie Sauvat, Frédérique Revillon, Yann Canioni, Danielle Brousse, Nicole de Saint-Basile, Genevieve Lefebvre, Juliette Heinz-Erian, Peter Enninger, Axel Utermann, Gerd Hess, Michael W Janecke, Andreas R Huber, Lukas A Producer: 20100730 In: Human mutation vol. 31 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	99.	Intestinal dysbiosis in inflammatory bowel disease associated with primary immunodeficiency. [electronic resource] by Sokol, Harry Mahlaoui, Nizar Aguilar, Claire Bach, Perrine Join-Lambert, Olivier Garraffo, Aurélie Seksik, Philippe Danion, François Jegou, Sarah Straube, Marjolene Lenoir, Christelle Neven, Bénédicte Moshous, Despina Blanche, Stéphane Pigneur, Bénédicte Goulet, Olivier Ruemmele, Frank Suarez, Felipe Beaugerie, Laurent Pannier, Stéphanie Mazingue, Françoise Lortholary, Olivier Galicier, Lionel Picard, Capucine de Saint Basile, Geneviève Latour, Sylvain Fischer, Alain Producer: 20200225 In: The Journal of allergy and clinical immunology vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	100.	High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. [electronic resource] by Tanaka, Naoko Izawa, Kazushi Saito, Megumu K Sakuma, Mio Oshima, Koichi Ohara, Osamu Nishikomori, Ryuta Morimoto, Takeshi Kambe, Naotomo Goldbach-Mansky, Raphaela Aksentijevich, Ivona de Saint Basile, Geneviève Neven, Bénédicte van Gijn, Mariëlle Frenkel, Joost Aróstegui, Juan I Yagüe, Jordi Merino, Rosa Ibañez, Mercedes Pontillo, Alessandra Takada, Hidetoshi Imagawa, Tomoyuki Kawai, Tomoki Yasumi, Takahiro Nakahata, Tatsutoshi Heike, Toshio Producer: 20130125 In: Arthritis and rheumatism vol. 63 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 110 results.