First Identification of Biallelic Inherited DUOX2 Inactivating Mutations as a Cause of Very Early Onset Inflammatory Bowel Disease
Parlato, Marianna, Charbit-Henrion, Fabienne, Hayes, Patti, Tiberti, Antonio, Aloi, Marina, Cucchiara, Salvatore, Bègue, Bernadette, Bras, Marc, Pouliet, Aurore, Rakotobe, Sabine, Ruemmele, Frank, Knaus, Ulla G., Cerf-Bensussan, Nadine
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2017)
Published in Gastroenterology (New York, N.Y. 1943) (01.08.2017)
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Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis
Parlato, Marianna, Charbit‐Henrion, Fabienne, Pan, Jie, Romano, Claudio, Duclaux‐Loras, Rémi, Le Du, Marie‐Helene, Warner, Neil, Francalanci, Paola, Bruneau, Julie, Bras, Marc, Zarhrate, Mohammed, Bègue, Bernadette, Guegan, Nicolas, Rakotobe, Sabine, Kapel, Nathalie, De Angelis, Paola, Griffiths, Anne M, Fiedler, Karoline, Crowley, Eileen, Ruemmele, Frank, Muise, Aleixo M, Cerf‐Bensussan, Nadine
Published in EMBO molecular medicine (01.04.2018)
Published in EMBO molecular medicine (01.04.2018)
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Deficiency in Mucosa-associated Lymphoid Tissue Lymphoma Translocation 1: A Novel Cause of IPEX-Like Syndrome
Charbit-Henrion, Fabienne, Jeverica, Anja K, Bègue, Bernadette, Markelj, Gasper, Parlato, Marianna, Avčin, Simona Lucija, Callebaut, Isabelle, Bras, Marc, Parisot, Mélanie, Jazbec, Janez, Homan, Matjaz, Ihan, Alojz, Rieux-Laucat, Frédéric, Stolzenberg, Marie-Claude, Ruemmele, Frank M, Avčin, Tadej, Cerf-Bensussan, Nadine
Published in Journal of pediatric gastroenterology and nutrition (01.03.2017)
Published in Journal of pediatric gastroenterology and nutrition (01.03.2017)
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Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds
Charbit-Henrion, Fabienne, Bègue, Bernadette, Sierra, Anaïs, Hanein, Sylvain, Stolzenberg, Marie-Claude, Li, Zhi, Pellegrini, Sandra, Garcelon, Nicolas, Jeanpierre, Marc, Neven, Bénédicte, Loge, Isabelle, Picard, Capucine, Rosain, Jérémie, Bustamante, Jacinta, Le Lorc'h, Marc, Pigneur, Bénédicte, Fernandes, Alicia, Rieux-Laucat, Frédéric, Amil Dias, Jorge, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Published in PloS one (26.10.2018)
Published in PloS one (26.10.2018)
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Interleukin-15-Dependent NKp46+ Innate Lymphoid Cells Control Intestinal Inflammation by Recruiting Inflammatory Monocytes
Schulthess, Julie, Meresse, Bertrand, Ramiro-Puig, Emma, Montcuquet, Nicolas, Darche, Sylvie, Bègue, Bernadette, Ruemmele, Frank, Combadière, Christophe, Di Santo, James P., Buzoni-Gatel, Dominique, Cerf-Bensussan, Nadine
Published in Immunity (Cambridge, Mass.) (27.07.2012)
Published in Immunity (Cambridge, Mass.) (27.07.2012)
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Interleukin 15: a key to disrupted intraepithelial lymphocyte homeostasis and lymphomagenesis in celiac disease
Mention, Jean-Jacques, Ben Ahmed, Mélika, Bègue, Bernadette, Barbe, Ullah, Verkarre, Virginie, Asnafi, Vahid, Colombel, Jean-Frédéric, Cugnenc, Paul-Henri, Ruemmele, Frank M, McIntyre, Elisabeth, Brousse, Nicole, Cellier, Chistophe, Cerf-Bensussan, Nadine
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2003)
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2003)
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In Vitro and ex Vivo Activation of the TLR5 Signaling Pathway in Intestinal Epithelial Cells by a Commensal Escherichia coli Strain
Bambou, Jean-Christophe, Giraud, Antoine, Menard, Sandrine, Begue, Bernadette, Rakotobe, Sabine, Heyman, Martine, Taddei, François, Cerf-Bensussan, Nadine, Gaboriau-Routhiau, Valérie
Published in The Journal of biological chemistry (08.10.2004)
Published in The Journal of biological chemistry (08.10.2004)
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Implication of TNF-related apoptosis-inducing ligand in inflammatory intestinal epithelial lesions
Begue, Bernadette, Wajant, Harald, Bambou, Jean-Christophe, Dubuquoy, Laurent, Siegmund, Daniela, Beaulieu, Jean-François, Canioni, Danielle, Berrebi, Dominique, Brousse, Nicole, Desreumaux, Pierre, Schmitz, Jacques, Lentze, Michael J, Goulet, Oliver, Cerf-Bensussan, Nadine, Ruemmele, Frank M
Published in Gastroenterology (New York, N.Y. 1943) (01.06.2006)
Published in Gastroenterology (New York, N.Y. 1943) (01.06.2006)
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The Tyrosine Kinase Substrate eps15 Is Constitutively Associated with the Plasma Membrane Adaptor AP-2
Benmerah, Alexandre, Gagnon, Jean, Bègue, Bernadette, Mégarbané, Bruno, Dautry-Varsat, Alice, Cerf-Bensussan, Nadine
Published in The Journal of cell biology (01.12.1995)
Published in The Journal of cell biology (01.12.1995)
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Journal Article
Characterization of Crohn disease in X-linked inhibitor of apoptosis–deficient male patients and female symptomatic carriers
Aguilar, Claire, MD, Lenoir, Christelle, MS, Lambert, Nathalie, AS, Bègue, Bernadette, MS, Brousse, Nicole, MD, Canioni, Danielle, MD, Berrebi, Dominique, MD, PhD, Roy, Maryline, MS, Gérart, Stéphane, ME, PhD, Chapel, Helen, MA, MD, Schwerd, Tobias, MD, Siproudhis, Laurent, MD, PhD, Schäppi, Michela, MD, PhD, Al-Ahmari, Ali, MD, Mori, Masaaki, MD, PhD, Yamaide, Akiko, MD, Galicier, Lionel, MD, Neven, Bénédicte, MD, PhD, Routes, John, MD, Uhlig, Holm H., MD, PhD, Koletzko, Sibylle, MD, Patel, Smita, MD, PhD, Kanegane, Hirokazu, MD, PhD, Picard, Capucine, MD, PhD, Fischer, Alain, MD, PhD, Bensussan, Nadine Cerf, MD, PhD, Ruemmele, Frank, MD, PhD, Hugot, Jean-Pierre, MD, PhD, Latour, Sylvain, PhD
Published in Journal of allergy and clinical immunology (01.11.2014)
Published in Journal of allergy and clinical immunology (01.11.2014)
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Efficacy of Ruxolitinib Therapy in a Patient With Severe Enterocolitis Associated With a STAT3 Gain-of-Function Mutation
Parlato, Marianna, Charbit-Henrion, Fabienne, Abi Nader, Elie, Begue, Bernadette, Guegan, Nicolas, Bruneau, Julie, Khater, Shérine, Macintyre, Elizabeth, Picard, Capucine, Frédéric, Rieux-Laucat, Le Bourhis, Lionel, Allez, Matthieu, Goulet, Olivier, Cellier, Christophe, Hermine, Olivier, Cerf-Bensussan, Nadine, Malamut, Georgia
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2019)
Published in Gastroenterology (New York, N.Y. 1943) (01.03.2019)
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Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease
BEGUE, Bernadette, VERDIER, Julien, FISCHER, Alain, KLEIN, Christoph, CERF-BENSUSSAN, Nadine, RUEMMELE, Frank M, RIEUX-LAUCAT, Frédéric, GOULET, Olivier, MORALI, Alain, CANIONI, Danielle, HUGOT, Jean-Pierre, DAUSSY, Cécile, VERKARRE, Virginie, PIGNEUR, Bénédicte
Published in The American journal of gastroenterology (01.08.2011)
Published in The American journal of gastroenterology (01.08.2011)
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Phenotypic characterization of very early-onset IBD due to mutations in the IL10, IL10 receptor alpha or beta gene: a survey of the Genius Working Group
Pigneur, Bénédicte, Escher, Johanna, Elawad, Mamoun, Lima, Rosa, Buderus, Stephan, Kierkus, Jaroslaw, Guariso, Graziella, Canioni, Danielle, Lambot, Karen, Talbotec, Cécile, Shah, Neil, Begue, Bernadette, Rieux-Laucat, Frédéric, Goulet, Olivier, Cerf-Bensussan, Nadine, Neven, Bénédicte, Ruemmele, Frank M
Published in Inflammatory bowel diseases (01.12.2013)
Published in Inflammatory bowel diseases (01.12.2013)
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Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
Ziegler, Alban, Duclaux-Loras, Rémi, Revenu, Céline, Charbit-Henrion, Fabienne, Begue, Bernadette, Duroure, Karine, Grimaud, Linda, Guihot, Anne Laure, Desquiret-Dumas, Valérie, Zarhrate, Mohammed, Cagnard, Nicolas, Mas, Emmanuel, Breton, Anne, Edouard, Thomas, Billon, Clarisse, Frank, Michael, Colin, Estelle, Lenaers, Guy, Henrion, Daniel, Lyonnet, Stanislas, Faivre, Laurence, Alembik, Yves, Philippe, Anaïs, Moulin, Bruno, Reinstein, Eyal, Tzur, Shay, Attali, Ruben, McGillivray, George, White, Susan M., Gallacher, Lyndon, Kutsche, Kerstin, Schneeberger, Pauline, Girisha, Katta M., Nayak, Shalini S., Pais, Lynn, Maroofian, Reza, Rad, Aboulfazl, Vona, Barbara, Karimiani, Ehsan Ghayoor, Lekszas, Caroline, Haaf, Thomas, Martin, Ludovic, Ruemmele, Frank, Bonneau, Dominique, Cerf-Bensussan, Nadine, Del Bene, Filippo, Parlato, Marianna
Published in American journal of human genetics (03.06.2021)
Published in American journal of human genetics (03.06.2021)
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Journal Article
Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study
Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronski, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Published in Journal of Crohn's and colitis (29.08.2018)
Published in Journal of Crohn's and colitis (29.08.2018)
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Journal Article
Reduced expression of FOXP3 and regulatory T-cell function in severe forms of early-onset autoimmune enteropathy
Moes, Nicolette, Rieux-Laucat, Frédéric, Begue, Bernadette, Verdier, Julien, Neven, Bénédicte, Patey, Natacha, Torgerson, Troy T, Picard, Capucine, Stolzenberg, Marie-Claude, Ruemmele, Corinne, Rings, Edmond Hhm, Casanova, Jean-Laurent, Piloquet, Hugues, Biver, Armand, Breton, Anne, Ochs, Hans D, Hermine, Olivier, Fischer, Alain, Goulet, Olivier, Cerf-Bensussan, Nadine, Ruemmele, Frank M
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2010)
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2010)
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Journal Article
Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Dias, Jorge Amil, Hariz, Mongi Ben, Bourrier, Anne, Breuer, Christian, Breton, Anne, Bronsky, Jiri, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Gurkan, Odul Egritas, Fabre, Alexandre, Fischer, Aude, Diaz, Marta German, Gonzalez-Lama, Yago, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M, Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pais, Isabel Pinto, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank M, Cerf-Bensussan, Nadine
Published in Journal of Crohn's and colitis (05.03.2021)
Published in Journal of Crohn's and colitis (05.03.2021)
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Journal Article
Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study
Charbit-Henrion, Fabienne, Parlato, Marianna, Hanein, Sylvain, Duclaux-Loras, Rémi, Nowak, Jan, Begue, Bernadette, Rakotobe, Sabine, Bruneau, Julie, Fourrage, Cécile, Alibeu, Olivier, Rieux-Laucat, Frédéric, Lévy, Eva, Stolzenberg, Marie-Claude, Mazerolles, Fabienne, Latour, Sylvain, Lenoir, Christelle, Fischer, Alain, Picard, Capucine, Aloi, Marina, Amil Dias, Jorge, Ben Hariz, Mongi, Bourrier, Anne, Breuer, Christian, Breton, Anne, Buderus, Stephan, Cananzi, Mara, Coopman, Stéphanie, Crémilleux, Clara, Dabadie, Alain, Dumant-Forest, Clémentine, Egritas Gurkan, Odul, Fabre, Alexandre, Fischer, Aude, German Diaz, Marta, Gonzalez-Lama, Yago, Goulet, Olivier, Goulet, Olivier, Guariso, Graziella, Gurcan, Neslihan, Homan, Matjaz, Hugot, Jean-Pierre, Jeziorski, Eric, Karanika, Evi, Lachaux, Alain, Lewindon, Peter, Lima, Rosa, Magro, Fernando, Major, Janos, Malamut, Georgia, Mas, Emmanuel, Mattyus, Istvan, Mearin, Luisa M., Melek, Jan, Navas-Lopez, Victor Manuel, Paerregaard, Anders, Pelatan, Cecile, Pigneur, Bénédicte, Pinto Pais, Isabel, Rebeuh, Julie, Romano, Claudio, Siala, Nadia, Strisciuglio, Caterina, Tempia-Caliera, Michela, Tounian, Patrick, Turner, Dan, Urbonas, Vaidotas, Willot, Stéphanie, Ruemmele, Frank, Cerf-Bensussan, Nadine N.
Published in Journal of Crohn's and colitis (01.09.2018)
Published in Journal of Crohn's and colitis (01.09.2018)
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Journal Article
Molecular Cloning and Characterization of MT-ACT48, a Novel Mitochondrial Acyl-CoA Thioesterase
Poupon, V, Bègue, B, Gagnon, J, Dautry-Varsat, A, Cerf-Bensussan, N, Benmerah, A
Published in The Journal of biological chemistry (02.07.1999)
Published in The Journal of biological chemistry (02.07.1999)
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