PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations

por Cavicchi, Catia, Oussalah, Abderrahim, Falliano, Silvia, Ferri, Lorenzo, Gozzini, Alessia, Gasperini, Serena, Motta, Serena, Rigoldi, Miriam, Parenti, Giancarlo, Tummolo, Albina, Meli, Concetta, Menni, Francesca, Furlan, Francesca, Daniotti, Marta, Malvagia, Sabrina, la Marca, Giancarlo, Chery, Céline, Morange, Pierre-Emmanuel, Tregouet, David, Donati, Maria Alice, Guerrini, Renzo, Guéant, Jean-Louis, Morrone, Amelia
Publicado 2021

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

por Dard, Laetitia, Hubert, Christophe, Esteves, Pauline, Blanchard, Wendy, Bou About, Ghina, Baldasseroni, Lyla, Dumon, Elodie, Angelini, Chloe, Delourme, Mégane, Guyonnet-Dupérat, Véronique, Claverol, Stéphane, Fontenille, Laura, Kissa, Karima, Séguéla, Pierre-Emmanuel, Thambo, Jean-Benoît, Nicolas, Lévy, Herault, Yann, Bellance, Nadège, Dias Amoedo, Nivea, Magdinier, Frédérique, Sorg, Tania, Lacombe, Didier, Rossignol, Rodrigue
Publicado 2022

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B(12)

por Oussalah, Abderrahim, Siblini, Youssef, Hergalant, Sébastien, Chéry, Céline, Rouyer, Pierre, Cavicchi, Catia, Guerrini, Renzo, Morange, Pierre-Emmanuel, Trégouët, David, Pupavac, Mihaela, Watkins, David, Pastinen, Tomi, Chung, Wendy K., Ficicioglu, Can, Feillet, François, Froese, D. Sean, Baumgartner, Matthias R., Benoist, Jean-François, Majewski, Jacek, Morrone, Amelia, Rosenblatt, David S., Guéant, Jean-Louis
Publicado 2022

Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency

por de la Morena-Barrio, Belén, Stephens, Jonathan, de la Morena-Barrio, María Eugenia, Stefanucci, Luca, Padilla, José, Miñano, Antonia, Gleadall, Nicholas, García, Juan Luis, López-Fernández, María Fernanda, Morange, Pierre-Emmanuel, Puurunen, Marja, Undas, Anetta, Vidal, Francisco, Raymond, Frances Lucy, Vicente, Vicente, Ouwehand, Willem H., Corral, Javier, Sanchis-Juan, Alba
Publicado 2022

Macrothrombocytopenia and dense granule deficiency associated with FLI1 variants: ultrastructural and pathogenic features

por Saultier, Paul, Vidal, Léa, Canault, Matthias, Bernot, Denis, Falaise, Céline, Pouymayou, Catherine, Bordet, Jean-Claude, Saut, Noémie, Rostan, Agathe, Baccini, Véronique, Peiretti, Franck, Favier, Marie, Lucca, Pauline, Deleuze, Jean-François, Olaso, Robert, Boland, Anne, Morange, Pierre Emmanuel, Gachet, Christian, Malergue, Fabrice, Fauré, Sixtine, Eckly, Anita, Trégouët, David-Alexandre, Poggi, Marjorie, Alessi, Marie-Christine
Publicado 2017

Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia

por Wlodarski, Marcin W., Da Costa, Lydie, O’Donohue, Marie-Françoise, Gastou, Marc, Karboul, Narjesse, Montel-Lehry, Nathalie, Hainmann, Ina, Danda, Dominika, Szvetnik, Amina, Pastor, Victor, Paolini, Nahuel, di Summa, Franca M., Tamary, Hannah, Quider, Abed Abu, Aspesi, Anna, Houtkooper, Riekelt H., Leblanc, Thierry, Niemeyer, Charlotte M., Gleizes, Pierre-Emmanuel, MacInnes, Alyson W.
Publicado 2018

Mucormycosis in intensive care unit: surgery is a major prognostic factor in patients with hematological malignancy

por Claustre, Johanna, Larcher, Romaric, Jouve, Thomas, Truche, Anne-Sophie, Nseir, Saad, Cadiet, Julien, Zerbib, Yoann, Lautrette, Alexandre, Constantin, Jean-Michel, Charles, Pierre-Emmanuel, Daubin, Cedric, Coudroy, Remi, Dellamonica, Jean, Argaud, Laurent, Phelouzat, Pierre, Contou, Damien, Pocquet, Juliette, Voiriot, Guillaume, Navellou, Jean-Christophe, Lavagne, Pierre, Durand, Michel, Cornet, Muriel, Schwebel, Carole, Terzi, Nicolas
Publicado 2020

Characterization of Blood Immune Cells in Patients With Decompensated Cirrhosis Including ACLF

por Weiss, Emmanuel, de la Grange, Pierre, Defaye, Mylène, Lozano, Juan José, Aguilar, Ferrán, Hegde, Pushpa, Jolly, Ariane, Moga, Lucile, Sukriti, Sukriti, Agarwal, Banwari, Gurm, Haqeeqat, Tanguy, Marion, Poisson, Johanne, Clària, Joan, Abback, Paer-Selim, Périanin, Axel, Mehta, Gautam, Jalan, Rajiv, Francoz, Claire, Rautou, Pierre-Emmanuel, Lotersztajn, Sophie, Arroyo, Vicente, Durand, François, Moreau, Richard
Publicado 2021

Contrast‐enhanced CT and liver surface nodularity for the diagnosis of porto‐sinusoidal vascular disorder: A case‐control study

por Valainathan, Shantha Ram, Sartoris, Riccardo, Elkrief, Laure, Magaz, Marta, Betancourt, Fabian, Pellegrino, Silvia, Nivolli, Arianna, Dioguardi Burgio, Marco, Flattet, Yves, Terraz, Sylvain, Drilhon, Nicolas, Lazareth, Marie, Herrou, Julia, Bruno, Onorina, Payance, Audrey, Plessier, Aurélie, Durand, François, Ronot, Maxime, Valla, Dominique‐Charles, Paradis, Valérie, Garcia‐Pagan, Juan Carlos, Vilgrain, Valérie, Rautou, Pierre‐Emmanuel
Publicado 2022

Machine Learning‐Assisted Evaluation of Circulating DNA Quantitative Analysis for Cancer Screening

por Tanos, Rita, Tosato, Guillaume, Otandault, Amaelle, Al Amir Dache, Zahra, Pique Lasorsa, Laurence, Tousch, Geoffroy, El Messaoudi, Safia, Meddeb, Romain, Diab Assaf, Mona, Ychou, Marc, Du Manoir, Stanislas, Pezet, Denis, Gagnière, Johan, Colombo, Pierre‐Emmanuel, Jacot, William, Assénat, Eric, Dupuy, Marie, Adenis, Antoine, Mazard, Thibault, Mollevi, Caroline, Sayagués, José María, Colinge, Jacques, Thierry, Alain R.
Publicado 2020

Antirheumatic Drug Intake Influence on Occurrence of COVID-19 Infection in Ambulatory Patients with Immune-Mediated Inflammatory Diseases: A Cohort Study

por Guillaume, Debellemanière, Magalie, Bouvet, Sina, Elahi, Imène, Salah-Mabed, Frédéric, Vayr, Mathieu, Dubois, Aurore, Muselier, Yoni, Gozlan, Emma, Elbaz, Charlotte, Badatcheff, Laura, Fabre, Alain, Saad, Steven, Nahaisi, Pierre, Zeboulon, Jean-Luc, Febbraro, Romain, Courtin, Alice, Grise-Dulac, Adrien, Mazharian, Wassim, Ghazal, Pierre-Emmanuel, Remongin, Christophe, Panthier, Catherine, Chirouze, Kevin, Bertrand, Thomas, Sené, Damien, Gatinel
Publicado 2021

Fusion Cell Markers in Circulating Tumor Cells from Patients with High-Grade Ovarian Serous Carcinoma

por Ruano, Anna Paula Carreta, Gadelha Guimarães, Andrea Paiva, Braun, Alexcia C., Flores, Bianca C. T. C. P., Tariki, Milena Shizue, Abdallah, Emne A., Torres, Jacqueline Aparecida, Nunes, Diana Noronha, Tirapelli, Bruna, de Lima, Vladmir C. Cordeiro, Fanelli, Marcello Ferretti, Colombo, Pierre-Emmanuel, da Costa, Alexandre André Balieiro Anastácio, Alix-Panabières, Catherine, Chinen, Ludmilla Thomé Domingos
Publicado 2022

Fine–mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians

por Guibon, Julie, Sugier, Pierre-Emmanuel, Kulkarni, Om, Karimi, Mojgan, Bacq-Daian, Delphine, Besse, Céline, Boland, Anne, Adjadj, Elisabeth, Rachédi, Frédérique, Rubino, Carole, Xhaard, Constance, Mulot, Claire, Laurent-Puig, Pierre, Guizard, Anne-Valérie, Schvartz, Claire, Ortiz, Rosa Maria, Ren, Yan, Ostroumova, Evgenia, Deleuze, Jean-François, Boutron-Ruault, Marie-Christine, Kesminiene, Ausrele, De Vathaire, Florent, Guénel, Pascal, Lesueur, Fabienne, Truong, Thérèse
Publicado 2021

Therapeutic Challenges in Patients with Gynecologic Carcinosarcomas: Analysis of a Multicenter National Cohort Study from the French Prospective TMRG Network

por Romeo, Clémence, Le Saux, Olivia, Jacobs, Margaux, Joly, Florence, Ferron, Gwenael, Favier, Laure, Fumet, Jean-David, Isambert, Nicolas, Colombo, Pierre-Emmanuel, Sabatier, Renaud, Bastide, Ludovic, Charreton, Amandine, Devouassoux-Shisheboran, Mojgan, Gertych, Witold, Dubot, Coraline, Bello Roufai, Diana, Bataillon, Guillaume, Berton, Dominique, Kalbacher, Elsa, Pautier, Patricia, Pomel, Christophe, Cornou, Caroline, Treilleux, Isabelle, Lardy-Cleaud, Audrey, Ray-Coquard, Isabelle
Publicado 2022

Does Myasthenia Gravis Affect Long-Term Survival in Thymic Carcinomas? An ESTS Database Analysis

por Lococo, Filippo, Nachira, Dania, Chiappetta, Marco, Evangelista, Jessica, Falcoz, Pierre Emmanuel, Ruffini, Enrico, Van Schil, Paul, Scarci, Marco, Furàk, Jòzsef, Sollitto, Francesco, Guerrera, Francesco, Spaggiari, Lorenzo, Aigner, Clemens, Evangelia, Liverakou, Billè, Andrea, Moser, Bernhard, Thomas, Pascal Alexandre, Liberman, Moishe, Boubia, Souheil, Campisi, Alessio, Ampollini, Luca, Toker, Alper, Enyed, Attila, Voltolini, Luca, Van Raemdonck, Dirk, Margaritora, Stefano
Publicado 2022

JAK2V617F mutation drives vascular resident macrophages toward a pathogenic phenotype and promotes dissecting aortic aneurysm

por Al-Rifai, Rida, Vandestienne, Marie, Lavillegrand, Jean-Rémi, Mirault, Tristan, Cornebise, Julie, Poisson, Johanne, Laurans, Ludivine, Esposito, Bruno, James, Chloé, Mansier, Olivier, Hirsch, Pierre, Favale, Fabrizia, Braik, Rayan, Knosp, Camille, Vilar, Jose, Rizzo, Giuseppe, Zernecke, Alma, Saliba, Antoine-Emmanuel, Tedgui, Alain, Lacroix, Maxime, Arrive, Lionel, Mallat, Ziad, Taleb, Soraya, Diedisheim, Marc, Cochain, Clément, Rautou, Pierre-Emmanuel, Ait-Oufella, Hafid
Publicado 2022

Author Correction: JAK2V617F mutation drives vascular resident macrophages toward a pathogenic phenotype and promotes dissecting aortic aneurysm

por Al-Rifai, Rida, Vandestienne, Marie, Lavillegrand, Jean-Rémi, Mirault, Tristan, Cornebise, Julie, Poisson, Johanne, Laurans, Ludivine, Esposito, Bruno, James, Chloé, Mansier, Olivier, Hirsch, Pierre, Favale, Fabrizia, Braik, Rayan, Knosp, Camille, Vilar, Jose, Rizzo, Giuseppe, Zernecke, Alma, Saliba, Antoine-Emmanuel, Tedgui, Alain, Lacroix, Maxime, Arrive, Lionel, Mallat, Ziad, Taleb, Soraya, Diedisheim, Marc, Cochain, Clément, Rautou, Pierre-Emmanuel, Ait-Oufella, Hafid
Publicado 2022

Characterization of Reemerging Chikungunya Virus

por Sourisseau, Marion, Schilte, Clémentine, Casartelli, Nicoletta, Trouillet, Céline, Guivel-Benhassine, Florence, Rudnicka, Dominika, Sol-Foulon, Nathalie, Roux, Karin Le, Prevost, Marie-Christine, Fsihi, Hafida, Frenkiel, Marie-Pascale, Blanchet, Fabien, Afonso, Philippe V, Ceccaldi, Pierre-Emmanuel, Ozden, Simona, Gessain, Antoine, Schuffenecker, Isabelle, Verhasselt, Bruno, Zamborlini, Alessia, Saïb, Ali, Rey, Felix A, Arenzana-Seisdedos, Fernando, Desprès, Philippe, Michault, Alain, Albert, Matthew L, Schwartz, Olivier
Publicado 2007

Immunohistochemical and virological features of HTLV-1-associated myosites: a study of 13 patients from West Indies and Africa

por Desdouits, Marion, Cassar, Olivier, Maisonobe, Thierry, Desrames, Alexandra, Aouba, Achille, Hermine, Olivier, Mikol, Jacqueline, Polivka, Marc, Penisson-Besnier, Isabelle, Marcorelles, Pascale, Zagnoli, Fabien, Papo, Thomas, Lacour, Arnaud, Amoura, Zahir, Haroche, Julien, Chérin, Patrick, Texeira, Antonio, Morin, Anne-Sophie, Mortreux, Franck, Wattel, Eric, Huerre, Michel, Cumont, Marie-Christine, Khun, Huot, Bassot, Sylviane, Martin-Latil, Sandra, Taylor, Graham, Gessain, Antoine, Ozden, Simona, Ceccaldi, Pierre-Emmanuel
Publicado 2011

Impact of Sophrology on cardiopulmonary fitness in teenagers and young adults with a congenital heart disease: The SOPHROCARE study rationale, design and methods()()

por Moreau, Johan, Lavastre, Kathleen, Romieu, Huguette, Charbonnier, Françoise, Guillaumont, Sophie, Bredy, Charlene, Abassi, Hamouda, Werner, Oscar, De La Villeon, Gregoire, Requirand, Anne, Auer, Annie, Matecki, Stefan, Karsenty, Clement, Guitarte, Aitor, Hadeed, Khaled, Dulac, Yves, Souletie, Nathalie, Acar, Philippe, Bajolle, Fanny, Bonnet, Damien, Negre-Pages, Laurence, Mura, Thibault, Mounier, Maria, Seguela, Pierre-Emmanuel, Thomas, Julie, Iriart, Xavier, Jean-Benoit-Thambo, Amedro, Pascal
Publicado 2020