Search Results - "Aubriot‐Lorton, Marie‐Hélène"

A recurrent point mutation in PRKCA is a hallmark of chordoid gliomas by 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

“…Chordoid glioma (ChG) is a characteristic, slow growing, and well-circumscribed diencephalic tumor, whose mutational landscape is unknown. Here we report the…”
Get full text

Herpes Simplex Virus Lung Infection in Patients Undergoing Prolonged Mechanical Ventilation by Luyt, Charles-Edouard, Combes, Alain, Deback, Claire, Aubriot-Lorton, Marie-Helene, Nieszkowska, Ania, Trouillet, Jean-Louis, Capron, Frederique, Agut, Henri, Gibert, Claude, Chastre, Jean

“…It is not known whether the isolation of herpes simplex virus (HSV) from lower respiratory tract samples of nonimmunocompromised ventilated patients…”
Get full text

Autosomal-recessive SASH1 variants associated with a new genodermatosis with pigmentation defects, palmoplantar keratoderma and skin carcinoma by 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

“…SASH1 (SAM and SH3 domain-containing protein 1) is a tumor suppressor gene involved in the tumorigenesis of a spectrum of solid cancers. Heterozygous SASH1…”
Get full text

Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene by 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

“…Achaete-Scute Family basic-helix-loop-helix (bHLH) Transcription Factor 1 (ASCL1) is a proneural transcription factor involved in neuron development in the…”
Get full text

Pro-angiogenic changes of T-helper lymphocytes in hereditary hemorrhagic telangiectasia by Guilhem, Alexandre, Ciudad, Marion, Aubriot-Lorton, Marie-Hélène, Greigert, Hélène, Cladière, Claudie, Leguy-Seguin, Vanessa, Audia, Sylvain, Samson, Maxime, Bonnotte, Bernard

“…Hereditary hemorrhagic telangiectasia (HHT) is a rare inherited disease due to heterozygous loss-of-function mutations on the BMP9/10 pathway ( or mainly). HHT…”
Get full text

Prognostic and Therapeutic Markers in Chordomas: A Study of 287 Tumors by 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

“…Chordomas are slow-growing malignant neoplasms. Determination of histopathologic prognostic factors using a large cohort study has been limited by their low…”
Get full text

Mosaicism for a KITLG Mutation in Linear and Whorled Nevoid Hypermelanosis by 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

Get full text

Frequent FGFR3 Mutations in Papillary Non-Invasive Bladder (pTa) Tumors by 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

“…We recently identified activating mutations of fibroblast growth factor receptor 3 (FGFR3) in bladder carcinoma. In this study we assessed the incidence of…”
Get full text

Autoimmune Myopathy Due to Statin Treatment in an Elderly Woman by Nicolas, Barbara, Berthier, Sabine, Sordet-Guépet, Hélène, Aubriot-Lorton, Marie-Hélène, Manckoundia, Patrick

Get full text

Cutaneous B-cell lymphoblastic lymphoma in children: A rare diagnosis by 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

“…Background Lymphoblastic lymphoma (LBL) is a rare malignant neoplasm usually occurring in the mediastinum of children and adolescents. The B-cell…”
Get full text

Cerebellopontine Angle Ewing-like BCOR-rearranged Sarcoma Mimicking Vestibular Schwannoma by Guigou, Caroline, Aubriot Lorton, Marie-Hélène, Lleu, Maxime, Bozorg Grayeli, Alexis

Get full text

Impact of expert pathology review in skin adnexal carcinoma diagnosis: Analysis of 2573 patients from the French CARADERM network by 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

“…To prospectively assess the impact of expert pathological review of skin adnexal carcinoma diagnosis in France. From 2014 to 2019, 2573 samples from patients…”
Get full text

AN ATYPICAL CASE OF GIANT CELL ARTERITIS (HORTON'S DISEASE) ASSOCIATED WITH FACIAL SWELLING, CONFUSION, AND PERICARDITIS IN AN ELDERLY WOMAN by Blot, Mathieu, Guépet, Hélène, Aubriot-Lorton, Marie-Hélène, Pfitzenmeyer, Pierre, Manckoundia, Patrick

Get full text

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures by 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

“…Distal limb contractures (DLC) represent a heterogeneous clinical and genetic condition. Overall, 20–25% of the DLC are caused by mutations in genes encoding…”
Get full text

Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities by 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

“…Hypomelanosis of Ito (HI) is a skin marker of somatic mosaicism. Mosaic MTOR pathogenic variants have been reported in HI with brain overgrowth. We sought to…”
Get full text

Chordoid Gliomas of the Third Ventricle Share TTF-1 Expression With Organum Vasculosum of the Lamina Terminalis by 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

“…Chordoid glioma of the third ventricle (CG3V) is a rare tumor developing in a stereotyped localization. It has been related to the circumventricular organ of…”
Get full text

A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia by 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

“…Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families…”
Get full text

Natural course and prognosis of anaplastic gangliogliomas: a multicenter retrospective study of 43 cases from the French Brain Tumor Database by 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

“…Anaplastic gangliogliomas (GGGs) are rare tumors whose natural history is poorly documented. We aimed to define their clinical and imaging features and to…”
Get full text

Mitotic index, microvascular proliferation, and necrosis define 3 pathological subgroups of prognostic relevance among 1p/19q co-deleted anaplastic oligodendrogliomas by 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

Get full text

Cutaneous vasculitis associated with mycosis fungoides by Nardin, Charlée, Lesage, Candice, Goubeau, Eléonore, Aubriot‐Lorton, Marie‐Helene, Lacheretz‐Szablewski, Vanessa, Ortonne, Nicolas, Saizonou, Ines, Aubin, François, Dereure, Olivier, Dalac‐Rat, Sophie

Get full text