Human Mendelian diseases related to abnormalities of the RNA exosome or its cofactors

par Fabre, Alexandre, Badens, Catherine
Publié 2014

Syndromic diarrhea/Tricho-hepato-enteric syndrome

par Fabre, Alexandre, Martinez-Vinson, Christine, Goulet, Olivier, Badens, Catherine
Publié 2013

Management of syndromic diarrhea/tricho-hepato-enteric syndrome: A review of the literature

par Fabre, Alexandre, Bourgeois, Patrice, Coste, Marie-Edith, Roman, Céline, Barlogis, Vincent, Badens, Catherine
Publié dans Intractable Rare Dis Res (2017)

Assessment of quality of life of the children and parents affected by inborn errors of metabolism with restricted diet: preliminary results of a cross-sectional study

par Fabre, Alexandre, Baumstarck, Karine, Cano, Aline, Loundou, Anderson, Berbis, Julie, Chabrol, Brigitte, Auquier, Pascal
Publié 2013

Chronic hepatitis associated with antiribosomal‐P autoantibodies in a 14‐year‐old girl

par Mejean, Coline, Bertin, Daniel, Guetta, Kim, Desaldeleer, Cécile, Butori, Mathilde, Roquelaure, Bertrand, Fabre, Alexandre
Publié dans Clin Case Rep (2019)

Tissue-Specific Regulation of Drosophila NF-κB Pathway Activation by Peptidoglycan Recognition Protein SC

par Costechareyre, Denis, Capo, Florence, Fabre, Alexandre, Chaduli, Delphine, Kellenberger, Christine, Roussel, Alain, Charroux, Bernard, Royet, Julien
Publié dans J Innate Immun (2016)

Child with liver transplant recovers from COVID-19 infection. A case report

par Morand, Aurélie, Roquelaure, Bertrand, Colson, Philippe, Amrane, Sophie, Bosdure, Emmanuelle, Raoult, Didier, Lagier, Jean-Christophe, Fabre, Alexandre
Publié dans Arch Pediatr (2020)

Why and when was lactase persistence selected for? Insights from Central Asian herders and ancient DNA

par Segurel, Laure, Guarino-Vignon, Perle, Marchi, Nina, Lafosse, Sophie, Laurent, Romain, Bon, Céline, Fabre, Alexandre, Hegay, Tatyana, Heyer, Evelyne
Publié dans PLoS Biol (2020)

The SKIV2L RNA exosome limits activation of the RIG-I-like receptors

par Eckard, Sterling C., Rice, Gillian I., Fabre, Alexandre, Badens, Catherine, Gray, Elizabeth E., Hartley, Jane L., Crow, Yanick J., Stetson, Daniel B.
Publié 2014

Detection of Human Microchimerism following Allogeneic Cell Transplantation Using Droplet Digital PCR

par Lombard, Catherine A., Fabre, Alexandre, Ambroise, Jérôme, Ravau, Joachim, André, Floriane, Jazouli, Nawal, Najimi, Mustapha, Stéphenne, Xavier, Smets, Françoise, Vaerman, Jean-Luc, Sokal, Etienne M.
Publié dans Stem Cells Int (2019)

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

par Fabre, Alexandre, Charroux, Bernard, Martinez-Vinson, Christine, Roquelaure, Bertrand, Odul, Egritas, Sayar, Ersin, Smith, Hilary, Colomb, Virginie, Andre, Nicolas, Hugot, Jean-Pierre, Goulet, Olivier, Lacoste, Caroline, Sarles, Jacques, Royet, Julien, Levy, Nicolas, Badens, Catherine
Publié 2012

Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome

par Vély, Frédéric, Barlogis, Vincent, Marinier, Evelyne, Coste, Marie-Edith, Dubern, Béatrice, Dugelay, Emmanuelle, Lemale, Julie, Martinez-Vinson, Christine, Peretti, Noël, Perry, Ariane, Bourgeois, Patrice, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Farnarier, Catherine, Fabre, Alexandre
Publié dans Front Immunol (2018)

Increased Gut Redox and Depletion of Anaerobic and Methanogenic Prokaryotes in Severe Acute Malnutrition

par Million, Matthieu, Tidjani Alou, Maryam, Khelaifia, Saber, Bachar, Dipankar, Lagier, Jean-Christophe, Dione, Niokhor, Brah, Souleymane, Hugon, Perrine, Lombard, Vincent, Armougom, Fabrice, Fromonot, Julien, Robert, Catherine, Michelle, Caroline, Diallo, Aldiouma, Fabre, Alexandre, Guieu, Régis, Sokhna, Cheikh, Henrissat, Bernard, Parola, Philippe, Raoult, Didier
Publié dans Sci Rep (2016)

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility

par Esteve, Clothilde, Francescatto, Ludmila, Tan, Perciliz L., Bourchany, Aurélie, De Leusse, Cécile, Marinier, Evelyne, Blanchard, Arnaud, Bourgeois, Patrice, Brochier-Armanet, Céline, Bruel, Ange-Line, Delarue, Arnauld, Duffourd, Yannis, Ecochard-Dugelay, Emmanuelle, Hery, Géraldine, Huet, Frédéric, Gauchez, Philippe, Gonzales, Emmanuel, Guettier-Bouttier, Catherine, Komuta, Mina, Lacoste, Caroline, Maudinas, Raphaelle, Mazodier, Karin, Rimet, Yves, Rivière, Jean-Baptiste, Roquelaure, Bertrand, Sigaudy, Sabine, Stephenne, Xavier, Thauvin-Robinet, Christel, Thevenon, Julien, Sarles, Jacques, Levy, Nicolas, Badens, Catherine, Goulet, Olivier, Hugot, Jean-Pierre, Katsanis, Nicholas, Faivre, Laurence, Fabre, Alexandre
Publié dans Am J Hum Genet (2018)

Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study

par 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
Publié dans J Crohns Colitis (2018)

Corrigendum to: Diagnostic Yield of Next-Generation Sequencing in Very Early-Onset Inflammatory Bowel Diseases: A Multicenter Study

par 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
Publié dans J Crohns Colitis (2020)