A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas
Rosenberg, Shai, Simeonova, Iva, Bielle, Franck, Verreault, Maite, Bance, Bertille, Le Roux, Isabelle, Daniau, Mailys, Nadaradjane, Arun, Gleize, Vincent, Paris, Sophie, Marie, Yannick, Giry, Marine, Polivka, Marc, Figarella-Branger, Dominique, Aubriot-Lorton, Marie-Hélène, Villa, Chiara, Vasiljevic, Alexandre, Lechapt-Zalcman, Emmanuèle, Kalamarides, Michel, Sharif, Ariane, Mokhtari, Karima, Pagnotta, Stefano Maria, Iavarone, Antonio, Lasorella, Anna, Huillard, Emmanuelle, Sanson, Marc
Published in Nature communications (18.06.2018)
Published in Nature communications (18.06.2018)
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Journal Article
Herpes Simplex Virus Lung Infection in Patients Undergoing Prolonged Mechanical Ventilation
Luyt, Charles-Edouard, Combes, Alain, Deback, Claire, Aubriot-Lorton, Marie-Helene, Nieszkowska, Ania, Trouillet, Jean-Louis, Capron, Frederique, Agut, Henri, Gibert, Claude, Chastre, Jean
Published in American journal of respiratory and critical care medicine (01.05.2007)
Published in American journal of respiratory and critical care medicine (01.05.2007)
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Journal Article
Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma
Courcet, Jean-Benoît, Elalaoui, Siham Chafai, Duplomb, Laurence, Tajir, Mariam, Rivière, Jean-Baptiste, Thevenon, Julien, Gigot, Nadège, Marle, Nathalie, Aral, Bernard, Duffourd, Yannis, Sarasin, Alain, Naim, Valeria, Courcet-Degrolard, Emilie, Aubriot-Lorton, Marie-Hélène, Martin, Laurent, Abrid, Jamal Eddin, Thauvin, Christel, Sefiani, Abdelaziz, Vabres, Pierre, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.07.2015)
Published in European journal of human genetics : EJHG (01.07.2015)
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Journal Article
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Malbos, Marlène, Wakeling, Emma, Gautier, Thierry, Boespflug-Tanguy, Odile, Busby, Louise, Taylor-Miller, Tashunka, Dudoignon, Benjamin, Bokov, Plamen, Govin, Jérôme, Grisval, Margot, Rega, Adélaïde, Mourot De Rougemont, Marie-Gabrielle, Aubriot-Lorton, Marie-Hélène, Darmency, Véronique, Bensignor, Candace, Houzel, Anne, Huet, Frédéric, Denommé-Pichon, Anne-Sophie, Delanne, Julian, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Safraou, Hana, Nambot, Sophie, Garde, Aurore, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
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Journal Article
Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia
Guilhem, Alexandre, Ciudad, Marion, Aubriot-Lorton, Marie-Hélène, Greigert, Hélène, Cladière, Claudie, Leguy-Seguin, Vanessa, Audia, Sylvain, Samson, Maxime, Bonnotte, Bernard
Published in Frontiers in immunology (2023)
Published in Frontiers in immunology (2023)
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Journal Article
Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors
Tauziède-Espariat, Arnault, Bresson, Damien, Polivka, Marc, Bouazza, Schahrazed, Labrousse, François, Aronica, Eleonora, Pretet, Jean-Luc, Projetti, Fabrice, Herman, Philippe, Salle, Henri, Monnien, Franck, Valmary-Degano, Séverine, Laquerrière, Annie, Pocard, Marc, Chaigneau, Loïc, Isambert, Nicolas, Aubriot-Lorton, Marie-Hélène, Feuvret, Loïc, George, Bernard, Froelich, Sébastien, Adle-Biassette, Homa
Published in Journal of neuropathology and experimental neurology (01.02.2016)
Published in Journal of neuropathology and experimental neurology (01.02.2016)
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Journal Article
Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis
Sorlin, Arthur, Maruani, Annabel, Aubriot-Lorton, Marie-Hélène, Kuentz, Paul, Duffourd, Yannis, Teysseire, Sandra, Carmignac, Virginie, St-Onge, Judith, Chevarin, Martin, Jouan, Thibaud, Thauvin-Robinet, Christel, Thevenon, Julien, Faivre, Laurence, Rivière, Jean-Baptiste, Vabres, Pierre
Published in Journal of investigative dermatology (01.07.2017)
Published in Journal of investigative dermatology (01.07.2017)
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Journal Article
Frequent FGFR3 Mutations in Papillary Non-Invasive Bladder (pTa) Tumors
Billerey, Claude, Chopin, Dominique, Aubriot-Lorton, Marie-Hélène, Ricol, David, Gil Diez de Medina, Sixtina, Van Rhijn, Bas, Bralet, Marie-Pierre, Lefrere-Belda, Marie-Aude, Lahaye, Jean-Baptiste, Abbou, Claude C., Bonaventure, Jacky, Zafrani, Elie Serge, van der Kwast, Theo, Thiery, Jean Paul, Radvanyi, Francois
Published in The American journal of pathology (01.06.2001)
Published in The American journal of pathology (01.06.2001)
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Journal Article
Cutaneous B-cell lymphoblastic lymphoma in children: A rare diagnosis
Boccara, Olivia, MD, Laloum-Grynberg, Etty, MD, Jeudy, Géraldine, MD, Aubriot-Lorton, Marie-Hélène, MD, Vabres, Pierre, MD, PhD, de Prost, Yves, MD, PhD, Pacquement, Hélène, MD, Brousse, Nicole, MD, PhD, Fraitag, Sylvie, MD, Bodemer, Christine, MD, PhD
Published in Journal of the American Academy of Dermatology (01.01.2012)
Published in Journal of the American Academy of Dermatology (01.01.2012)
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Journal Article
First Case of Human Primary Vertebral Cystic Echinococcosis Due to Echinococcus Ortleppi
Basmaciyan, Louise, Burlet, Bénédicte, Ramla, Selim, Blot, Mathieu, Mahy, Sophie, Aubriot-Lorton, Marie-Hélène, Valot, Stéphane, Grelat, Mickael, Sautour, Marc, Grenouillet, Frederic, Knapp, Jenny, Millon, Laurence, Piroth, Lionel, Martin, Laurent, Dalle, Frederic
Published in Journal of clinical medicine (15.11.2018)
Published in Journal of clinical medicine (15.11.2018)
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AN ATYPICAL CASE OF GIANT CELL ARTERITIS (HORTON'S DISEASE) ASSOCIATED WITH FACIAL SWELLING, CONFUSION, AND PERICARDITIS IN AN ELDERLY WOMAN
Blot, Mathieu, Guépet, Hélène, Aubriot-Lorton, Marie-Hélène, Pfitzenmeyer, Pierre, Manckoundia, Patrick
Published in Journal of the American Geriatrics Society (JAGS) (01.10.2010)
Published in Journal of the American Geriatrics Society (JAGS) (01.10.2010)
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Journal Article
Impact of expert pathology review in skin adnexal carcinoma diagnosis: Analysis of 2573 patients from the French CARADERM network
Battistella, Maxime, Balme, Brigitte, Jullie, Marie-Laure, Zimmermann, Ute, Carlotti, Agnès, Crinquette, Marie, Frouin, Eric, Macagno, Nicolas, Ortonne, Nicolas, Lamant, Laurence, de la Fouchardiere, Arnaud, Aubriot-lorton, Marie-Hélène, Durand, Luc, Josselin, Nicolas, Franck, Frédéric, Chatelain, Denis, Lemasson, Gilles, Algros, Marie-Paule, Durlach, Anne, Machet, Marie-Christine, Courville, Philippe, Osio, Amélie, Seris, Alice, Mortier, Laurent, Jouary, Thomas, Cribier, Bernard
Published in European journal of cancer (1990) (01.03.2022)
Published in European journal of cancer (1990) (01.03.2022)
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Journal Article
Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures
Thevenon, Julien, Monnier, Nicole, Callier, Patrick, Dieterich, Klaus, Francoise, Michel, Montgomery, Tara, Kjaergaard, Susanne, Neas, Katherine, Dixon, Joanne, Dahm, Thomas Lee, Huet, Frédéric, Ragon, Clémence, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Duplomb, Laurence, Aubriot-Lorton, Marie-Hélène, Mugneret, Francine, Vokes, Steve A., Tucker, Haley W., Lunardi, Joël, Faivre, Laurence, Jouk, Pierre Simon, Thauvin-Robinet, Christel
Published in American journal of medical genetics. Part A (01.12.2014)
Published in American journal of medical genetics. Part A (01.12.2014)
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Journal Article
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E.R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, Vabres, Pierre
Published in Genetics in medicine (01.08.2021)
Published in Genetics in medicine (01.08.2021)
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Journal Article
Chordoid gliomas of the third ventricle share TTF-1 expression with organum vasculosum of the lamina terminalis
Bielle, Franck, Villa, Chiara, Giry, Marine, Bergemer-Fouquet, Anne-Marie, Polivka, Marc, Vasiljevic, Alexandre, Aubriot-Lorton, Marie-Hélène, Bernier, Michèle, Lechapt-Zalcman, Emmanuèle, Viennet, Gabriel, Sazdovitch, Véronique, Duyckaerts, Charles, Sanson, Marc, Figarella-Branger, Dominique, Mokhtari, Karima
Published in The American journal of surgical pathology (01.07.2015)
Published in The American journal of surgical pathology (01.07.2015)
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Journal Article
A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia
Nicolas, Gaël, Jacquin, Agnès, Thauvin-Robinet, Christel, Rovelet-Lecrux, Anne, Rouaud, Olivier, Pottier, Cyril, Aubriot-Lorton, Marie-Hélène, Rousseau, Stéphane, Wallon, David, Duvillard, Christian, Béjot, Yannick, Frébourg, Thierry, Giroud, Maurice, Campion, Dominique, Hannequin, Didier
Published in European journal of human genetics : EJHG (01.10.2014)
Published in European journal of human genetics : EJHG (01.10.2014)
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Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database
Terrier, Louis-Marie, Bauchet, Luc, Rigau, Valérie, Amelot, Aymeric, Zouaoui, Sonia, Filipiak, Isabelle, Caille, Agnès, Almairac, Fabien, Aubriot-Lorton, Marie-Hélène, Bergemer-Fouquet, Anne-Marie, Bord, Eric, Cornu, Philippe, Czorny, Alain, Dam Hieu, Phong, Debono, Bertrand, Delisle, Marie-Bernadette, Emery, Evelyne, Farah, Walid, Gauchotte, Guillaume, Godfraind, Catherine, Guyotat, Jacques, Irthum, Bernard, Janot, Kevin, Le Reste, Pierre-Jean, Liguoro, Dominique, Loiseau, Hugues, Lot, Guillaume, Lubrano, Vincent, Mandonnet, Emmanuel, Menei, Philippe, Metellus, Philippe, Milin, Serge, Muckenstrum, Bertrand, Roche, Pierre-Hugues, Rousseau, Audrey, Uro-Coste, Emmanuelle, Vital, Anne, Voirin, Jimmy, Wager, Michel, Zanello, Marc, François, Patrick, Velut, Stéphane, Varlet, Pascale, Figarella-Branger, Dominique, Pallud, Johan, Zemmoura, Ilyess
Published in Neuro-oncology (Charlottesville, Va.) (01.05.2017)
Published in Neuro-oncology (Charlottesville, Va.) (01.05.2017)
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Mitotic index, microvascular proliferation, and necrosis define 3 pathological subgroups of prognostic relevance among 1p/19q co-deleted anaplastic oligodendrogliomas
Figarella-Branger, Dominique, Mokhtari, Karima, Dehais, Caroline, Carpentier, Catherine, Colin, Carole, Jouvet, Anne, Uro-Coste, Emmanuelle, Forest, Fabien, Maurage, Claude-Alain, Vignaud, Jean-Michel, Polivka, Marc, Lechapt-Zalcman, Emmanuèle, Eimer, Sandrine, Viennet, Gabriel, Quintin-Roué, Isabelle, Aubriot-Lorton, Marie-Hélène, Diebold, Marie-Danièle, Loussouarn, Delphine, Lacroix, Catherine, Rigau, Valérie, Laquerrière, Annie, Vandenbos, Fanny, Michalak, Sophie, Sevestre, Henri, Peoch, Michel, Labrousse, François, Christov, Christo, Kemeny, Jean-Louis, Chenard, Marie-Pierre, Chiforeanu, Danchristian, Ducray, François, Idbaih, Ahmed, Delattre, Jean-Yves
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2016)
Published in Neuro-oncology (Charlottesville, Va.) (01.06.2016)
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