Zobrazeno 1 - 10
of 47
pro vyhledávání: '"Aurélien, Trimouille"'
Autor:
Jean Galtier, Sophie Dimicoli-Salazar, Aurélien Trimouille, Elodie Lainey, Patrick Revy, Audrey Bidet, Yoann Vial, Edouard Forcade, Marie-Laure Negrier-Leibreich, Etienne Rivière, Julie Tinat, Nathalie Le Meur, Christelle Ménard, Arnaud Pigneux, Thibaut Leguay, Pierre-Yves Dumas, Ba Ibrahima, Caroline Kannengiesser
Publikováno v:
Leukemia & Lymphoma. 64:487-490
Renal involvement is frequent in adults with primary mitochondrial disorders: an observational study
Autor:
Hugo Bakis, Aurélien Trimouille, Agathe Vermorel, Cyril Goizet, Yaniss Belaroussi, Sacha Schutz, Guilhem Solé, Christian Combe, Marie-Laure Martin-Negrier, Claire Rigothier
Publikováno v:
Clinical Kidney Journal. 16:100-110
Background Mitochondrial functions are controlled by genes of both mitochondrial and nuclear DNA. Pathogenic variants affecting any of these are responsible for primary mitochondrial disorders (MIDs), which can be diagnosed during adulthood. Kidney f
Autor:
Didier Lacombe, Julien Van-Gils, Marine Lebrun, Aurélien Trimouille, Vincent Michaud, Sara Cabet, Jean-François Chateil, Jean-Michel Pedespan, Claire Bar, Gaetan Lesca
Publikováno v:
Brain and Development. 44:567-570
Autor:
Thomas Husson, François Lecoquierre, Gaël Nicolas, Anne-Claire Richard, Alexandra Afenjar, Séverine AUDEBERT-BELLANGER, Catherine Badens, Frédéric Bilan, Varoona Bizaoui, Anne Boland, Marie-Noelle Bonnet-Dupeyron, Elise Brischoux-Boucher, Céline Bonnet, Marie Bournez, Odile Boute, Perrine Brunelle, Roseline Caumes, Perrine Charles, Nicolas Chassaing, Nicolas Chatron, Benjamin Cogné, Estelle Colin, Valérie Cormier-Daire, Rodolphe Dard, Benjamin Dauriat, Julian Delanne, Jean-François Deleuze, Florence Demurger, Anne-Sophie Denommé-Pichon, Christel Depienne, Anne Dieux Coeslier, Christèle Dubourg, Patrick Edery, salima EL CHEHADEH, Laurence Faivre, Mélanie FRADIN, Aurore Garde, David Geneviève, Brigitte Gilbert-Dussardier, Cyril Goizet, Alice Goldenberg, Evan Gouy, Anne-Marie Guerrot, Anne Guimier, Ines HARZALLAH, Delphine Héron, Bertrand Isidor, Xavier Le Guillou Horn, Boris Keren, Alma Kuechler, Elodie Lacaze, Alinoë Lavillaureix, Daphné Lehalle, Gaetan Lesca, James Lespinasse, Jonathan Levy, Stanislas Lyonnet, Godelieve Morel, Nolwenn Jean Marçais, Sandrine Marlin, Luisa Marsili, Cyril Mignot, Sophie Nambot, Mathilde Nizon, Robert Olaso, Laurent PASQUIER, Laurine Perrin, Florence Petit, Amélie Piton, Fabienne Prieur, Audrey Putoux, Marc Planes, Sylvie Odent, Chloé Quelin, Sylvia Quemener, Mélanie Rama, Marlène RIO, Massimiliano Rossi, Elise Schaefer, Sophie Rondeau, Pascale SAUGIER-VEBER, Thomas Smol, Sabine Sigaudy, Renaud TOURAINE, Frédéric Tran-Mau-Them, Aurélien Trimouille, Clémence Vanlerberghe, Valérie Vantalon, Gabriella Vera, Marie Vincent, Alban Ziegler, Olivier Guillin, Dominique Campion, Camille Charbonnier
Variants of uncertain significance (VUS) are a significant issue for the molecular diagnosis of rare diseases. The publication of episignatures as effective biomarkers of certain Mendelian neurodevelopmental disorders has raised hopes to help classif
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2c59bc993669dbcd0685342c07953eee
https://doi.org/10.21203/rs.3.rs-2924104/v1
https://doi.org/10.21203/rs.3.rs-2924104/v1
Autor:
Aurélien Trimouille, Naïg Gueguen, C. Rouzier, Pascal Reynier, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Marie Laure Martin-Negrier, Claude Jardel, Samira Ait-El-Mkadem Saadi, Magalie Barth, Julien Cassereau, Franck Letournel, David Goudenège, Céline Bris, Benoit Rucheton, Estelle Colin, Magot Armelle, Stéphane Allouche, Sylvie Bannwarth, Véronique Paquis-Flucklinger, Abdel Slama, Yann Péréon, Valérie Desquiret-Dumas, Vincent Procaccio, Guy Lenaers, Pauline Gaignard, Marco Spinazzi
Publikováno v:
Genetics in Medicine. 23:1769-1778
Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA deletions also appear during aging, interfering with those resulting from mitochondrial diso
Autor:
Jean-Madeleine de Sainte Agathe, Ben Pode-Shakked, Sophie Naudion, Vincent Michaud, Benoit Arveiler, Patricia Fergelot, Jean Delmas, Boris Keren, Céline Poirsier, Fowzan S Alkuraya, Brahim Tabarki, Eric Bend, Kellie Davis, Martina Bebin, Michelle L Thompson, Emily M Bryant, Matias Wagner, Iris Hannibal, Jerica Lenberg, Martin Krenn, Kristen M Wigby, Jennifer R Friedman, Maria Iascone, Anna Cereda, Térence Miao, Eric LeGuern, Emanuela Argilli, Elliott Sherr, Oana Caluseriu, Timothy Tidwell, Pinar Bayrak-Toydemir, Caroline Hagedorn, Melanie Brugger, Katharina Vill, Francois-Dominique Morneau-Jacob, Wendy Chung, Kathryn N Weaver, Joshua W Owens, Ammar Husami, Bimal P Chaudhari, Brandon S Stone, Katie Burns, Rachel Li, Iris M de Lange, Margaux Biehler, Emmanuelle Ginglinger, Bénédicte Gérard, Rolf W Stottmann, Aurélien Trimouille
PurposeARF1was previously implicated in periventricular nodular heterotopia (PVNH) in only five individuals and systematic clinical characterisation was not available. The aim of this study is to provide a comprehensive description of the phenotypic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4cd60c35e549ae106d81306fe5c6d999
https://mediatum.ub.tum.de/doc/1707433/document.pdf
https://mediatum.ub.tum.de/doc/1707433/document.pdf
Autor:
Jean, Galtier, Sophie, Dimicoli-Salazar, Aurélien, Trimouille, Elodie, Lainey, Patrick, Revy, Audrey, Bidet, Yoann, Vial, Edouard, Forcade, Marie-Laure, Negrier-Leibreich, Etienne, Rivière, Julie, Tinat, Nathalie, Le Meur, Christelle, Ménard, Arnaud, Pigneux, Thibaut, Leguay, Pierre-Yves, Dumas, Ba, Ibrahima, Caroline, Kannengiesser
Publikováno v:
Leukemialymphoma.
Autor:
Cyril Goizet, Arthur Sorlin, Antonio Novelli, Christophe Philippe, Mathilde Nizon, Joan M. Stoler, Maria J. Guillen Sacoto, Marielle Alders, Grace Yoon, Binnaz Yalcin, Aurélien Trimouille, Anna R. Duncan, Valerie E. Vancollie, Emanuele Agolini, Lance H. Rodan, Monica H. Wojcik, Christopher J. Lelliott, Saskia M. Maas, Antonio Vitobello, Pankaj B. Agrawal, Ange Line Bruel, Laurence Faivre, Paolo Prontera, Stephan C. Collins, Teresa Santiago-Sim, Casie A. Genetti, Ann Seman, Jiahai Shi, Marieke F. van Dooren, Patricia Ellen Grant
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 107(6), 1170-1177. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107, pp.1170-1177. ⟨10.1016/j.ajhg.2020.11.001⟩
American journal of human genetics, 107(6), 1170-1177. Cell Press
American Journal of Human Genetics, 107(6), 1170-1177. Cell Press
American Journal of Human Genetics
American Journal of Human Genetics, 2020, 107, pp.1170-1177. ⟨10.1016/j.ajhg.2020.11.001⟩
American journal of human genetics, 107(6), 1170-1177. Cell Press
International audience; KDM4B is a lysine-specific demethylase with a preferential activity on H3K9 tri/di-methylation (H3K9me3/2)-modified histones. H3K9 tri/di-demethylation is an important epigenetic mechanism responsible for silencing of gene exp
Autor:
Angèle Tingaud-Sequeira, Cédric Delevoye, Vincent Michaud, Anne Bauters, Perrine Pennamen, Benoit Arveiler, Nguyen Van Duong Béatrice, V. Coste, Linh Le, Eulalie Lasseaux, Claudio Plaisant, Fanny Morice Picard, Modibo Diallo, Aurélien Trimouille, Jean-Claude Bordet, Bruno Delobel, Mathieu Fiore, Didier Lacombe, Michael S. Marks
Publikováno v:
Genet Med
PURPOSE. Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in 10 different genes have been involved in HPS. However, some patients lack variants in these genes. We
Autor:
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Bernt Popp, Frank Gaunitz, Manuela Morleo, Vincenzo Nigro, Silvia Maitz, Grazia M.S. Mancini, Claudia Ruivenkamp, Eun-Kyung Suk, Tobias Bartolomaeus, Andreas Merkenschlager, Daniel Koboldt, Dennis Bartholomew, Alexander P.A. Stegmann, Margje Sinnema, Irma Duynisveld, Ramona Salvarinova, Simone Race, Bert B.A. de Vries, Aurélien Trimouille, Sophie Naudion, Daphna Marom, Uri Hamiel, Noa Henig, Florence Demurger, Nils Rahner, Enrika Bartels, J. Austin Hamm, Abbey M. Putnam, Richard Person, Rami Abou Jamra, Henry Oppermann
Publikováno v:
Am J Hum Genet
American Journal of Human Genetics, 109(5), 944-952. Cell Press
American Journal of Human Genetics, 109(5), 944-952. Cell Press
Calcium (Ca2+) is a universal second messenger involved in synaptogenesis and cell survival; consequently, its regulation is important for neurons. ATPase plasma membrane Ca2+ transporting 1 (ATP2B1) belongs to the family of ATP-driven calmodulin-dep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d947f693563049c89bd43d0274e9d3c
http://hdl.handle.net/11591/468935
http://hdl.handle.net/11591/468935