Zobrazeno 41 - 50
of 180
pro vyhledávání: '"Julien Thevenon"'
Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder
Autor:
Anne-Sophie Denommé, Christine Francannet, Loréline Genschik, Claire Feger, Maria Kibaek, Imene Boujelbene, Paul Kuentz, Michel Guipponi, Marie-Christine Birling, Sébastien Moutton, Allan Bayat, Frederic Tran Mau Them, Mathilde Renaud, Joane Svane, Yann Herault, Sandrine Passemard, Christèle Dubourg, Mélanie Fradin, Marjolaine Willems, Julien Thevenon, Rosanna Weksberg, Bertrand Isidor, David Geneviève, Benjamin Cogné, Magalie Barth, Laurence Faivre, Jérémie Courraud, Boris Keren, Albert David, Laurence Perrin, Anne-Marie Guerrot, Christine Coubes, Thierry Bienvenu, Alice Goldenberg, Bénédicte Gérard, Amélie Piton, Lucas Bronicki, Julia Metreau, Mathilde Nizon, Elise Schaefer, Eric Chater-Diehl, Maria del Mar Muniz Moreno, Bruno Delobel, Katrine M Johannesen, Florence Demurger, Nathalie Drouot, Marie Vincent, Antonio Vitobello, Kristina Pilekær Sørensen, Christina Fagerberg, Cyril Mignot, Estelle Colin, Valérie Layet, Michèle Mathieu-Dramard, Jean-Louis Mandel, Cathrine Elisabeth Tronhjem, Benjamin Durand, Pascale Saugier, Séverine Drunat, Rikke S. Møller, Perrine Charles, Lydie Burglen, Bénédicte Demeer, Salima El Chehadeh, Marc Abramowicz, Laurent Pasquier, Julie D. Thompson
Publikováno v:
HAL
ABBSTRACTDYRK1A-related intellectual disability (ID) is among the most frequent monogenic form of ID. We refined the description of this disorder by reporting clinical and molecular data of forty individuals with ID harboringDYRK1Avariants. We develo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::014f60eee301874a03e7998673eb7515
https://doi.org/10.1101/2021.01.20.21250155
https://doi.org/10.1101/2021.01.20.21250155
Autor:
Julien Thevenon, Sophie Blesson, Sylvie Manouvrier Hanu, Chloé Quélin, Florence Fellmann, Nicolas Chassaing, Fabienne Giuliano, Laetitia Lambert, Caroline Rooryck-Thambo, Pierre-Simon Jouk, Sylvie Di Filippo, Alexandre Vasiljevic, Christine Francannet, Daphné Lehalle, Audrey Putoux, Anna‐Gaëlle Giguet‐Valard, Sophie Naudion, Salima El Chehadeh, Estelle Colin, Viorica Ciorna‐Monferrato, Bruno Reversade, Lionel Van Maldergem, Fanny Morice-Picard, Renaud Touraine, Sébastien Moutton, Jocelyne Attia, Laurent Pasquier, A. Vigouroux-Castera, Catherine Yardin, Tania Attié-Bitach, Carine Abel, Hui Liu, Sylvie Odent, Christelle Cabrol, Florence Petit, Philippe Khau Van Kien, Thomas Simonet, Catherine Vincent-Delorme, Jean Chiesa, Juliette Piard, Anne Bazin, Mélanie Fradin, Bertrand Isidor, Loubna El Zein, Patrice Bouvagnet, Marie-Pierre Brechard, Emmanuelle Szenker-Ravi, Sophie Scheidecker, Claire Beneteau
Publikováno v:
Human mutation, 41(12), 2167-2178. Wiley-Liss Inc.
Herein, we report the screening of a large panel of genes in a series of 80 fetuses with congenital heart defects (CHDs) and/or heterotaxy and no cytogenetic anomalies. There were 49 males (61%/39%), with a family history in 28 cases (35%) and no par
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::553363f59e6158b94810ccf8e644cd0d
https://pure.amc.nl/en/publications/nextgeneration-sequencing-in-a-series-of-80-fetuses-with-complex-cardiac-malformations-andor-heterotaxy(335c6b31-a96e-49bf-8a36-f80fec5c4e98).html
https://pure.amc.nl/en/publications/nextgeneration-sequencing-in-a-series-of-80-fetuses-with-complex-cardiac-malformations-andor-heterotaxy(335c6b31-a96e-49bf-8a36-f80fec5c4e98).html
Publikováno v:
BMC Genomics
BMC Genomics, BioMed Central, 2020, 21 (762), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, 2020, 21 (1), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, 2020, 21 (762), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, Vol 21, Iss 1, Pp 1-17 (2020)
BMC Genomics, BioMed Central, 2020, 21 (762), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, 2020, 21 (1), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, 2020, 21 (762), ⟨10.1186/s12864-020-07125-5⟩
BMC Genomics, Vol 21, Iss 1, Pp 1-17 (2020)
Background Since 2009, numerous tools have been developed to detect structural variants using short read technologies. Insertions >50 bp are one of the hardest type to discover and are drastically underrepresented in gold standard variant callsets. T
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74260d3610b164bca4df0abe972c0b44
https://hal.inria.fr/hal-03032763
https://hal.inria.fr/hal-03032763
Autor:
Rémy Sadoul, Mathieu Meunier, Karine Laulagnier, Jean-Paul Issartel, Sylvie Tondeur, Sophie Park, Claire Jouzier, Quentin Testard, Audrey Guttin, Christine Lefebvre, Sarah Ancelet, Christine Chatellard, Julien Thevenon, Pierre Hainaut, Virginie Persoons, Benoît Polack, Johanna Zannoni, Jean-François Deleuze, Jean-Yves Cahn, Florent Chuffart, Mylène Pezet, Sophie Rousseaux, David Laurin, Karin Pernet-Gallay
Publikováno v:
Leukemia
Leukemia, 2020, 34 (8), pp.2249-2253. ⟨10.1038/s41375-020-0738-8⟩
Leukemia, 2020, 34 (8), pp.2249-2253. ⟨10.1038/s41375-020-0738-8⟩
International audience; Physiopathology of myelodysplastic syndrome (MDS) remains poorly understood and the role of the microenvironment is increasingly highlighted. Recent studies in mouse models demonstrate that abnormalities of mesenchymal stromal
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67fccb1d3a111aeea1ee87d53d18f843
https://hal.science/hal-03969633
https://hal.science/hal-03969633
Autor:
Tania Attié-Bitach, Philippe Jonveaux, Alice Goldenberg, Antonio Vitobello, Nicole Laurent, Marjolaine Willems, Valérie Kremer, Dominique Gaillard, Chloé Quélin, Sebastien Moutton, Marion Aubert-Lenoir, Yannis Duffourd, Anne-Sophie Lebre, Anne-Claire Brehin, James Lespinasse, Yline Capri, Nolwenn Jean-Marçais, Maria Cristina Antal, Frédéric Tran Mau-Them, Nathalie Marle, Daphné Lehalle, Nicolas Bourgon, Sophie Blesson, Bernard Foliguet, Laetita Lambert, Nicole Bigi, Mélanie Fradin, Emilie Tisserant, Christel Thauvin-Robinet, Ange-Line Bruel, Elisabeth Alanio, Marie-Hélène Saint-Frison, Christine Francannet, Anne-Marie Guerrot, Paul Kuentz, Elise Schaefer, Anne-Marie Beaufrere, Sylvie Odent, Francine Arbez-Gindre, Laurence Faivre, Christophe Philippe, Julien Thevenon, Sophie Patrier-Sallebert, Nada Houcinat, Celine Poirisier, Sophie Nambot, Mathilde Lefebvre, Mirna Assoum, Françoise Girard-Lemaitre, Sophie Collardeau-Frachon, Marie-José Perez, Jean-Louis Mandel, Jean-Pierre Mazutti, Renaud Touraine, Philippe Loget, Salima El Chehadeh
Publikováno v:
Journal of Medical Genetics
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2020, pp.jmedgenet-2020-106867. ⟨10.1136/jmedgenet-2020-106867⟩
Journal of Medical Genetics, 2021, 58 (6), pp.400-413. ⟨10.1136/jmedgenet-2020-106867⟩
PurposeMolecular diagnosis based on singleton exome sequencing (sES) is particularly challenging in fetuses with multiple congenital abnormalities (MCA). Indeed, some studies reveal a diagnostic yield of about 20%, far lower than in live birth indivi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27731c0dabc70d1e161c600bcdf091e3
https://www.hal.inserm.fr/inserm-03231676
https://www.hal.inserm.fr/inserm-03231676
Autor:
Christophe, Cancé, Pierre-Ephrem, Madiot, Christian, Lenne, Svetlana, Artemova, Brigitte, Cohard, Marjolaine, Bodin, Alban, Caporossi, Jean-François, Blatier, Jerôme, Fauconnier, Frédérique, Olive, Daniel, Pagonis, Dominique, Le Magny, Jean-Luc, Bosson, Katia, Charriere, Ivan, Paturel, Bruno, Lavaire, Gabriel, Schummer, Joseph, Eterno, Jean-Noël, Ravey, Ivan, Bricault, Gilbert, Ferretti, Sébastien, Chanoine, Pierrick, Bedouch, Emmanuel, Barbier, Julien, Thevenon, Pascal, Mossuz, Alexandre, Moreau-Gaudry
Publikováno v:
Studies in health technology and informatics. 270
Grenoble Alpes University Hospital (CHUGA) is currently deploying a health data warehouse called PREDIMED [1], a platform designed to integrate and analyze for research, education and institutional management the data of patients treated at CHUGA. PR
Autor:
Herbert Holz, Julien Thevenon, Gina Renschler, Bilal N. Sheikh, Dominik von Elverfeldt, Vivek Bhardwaj, Aindrila Chatterjee, Wilfried Reichardt, Dominic Grün, Omar Mossad, Benjamin Herquel, Marius Schwabenland, Sukanya Guhathakurta, Tsz Hong Tsang, Oliver Kretz, Asifa Akhtar, Olga Bondareva, Thomas Blank, Laura J Braun, Joerg M. Buescher, Sergiy V. Avilov, Hervé Sartelet, Tobias B. Huber, Dietmar Vestweber, Nadim Aizarani, Marco Prinz, Thomas Stehle
Publikováno v:
Nature Cell Biology
Mutations in chromatin-modifying complexes and metabolic enzymes commonly underlie complex human developmental syn-dromes affecting multiple organs. A major challenge is to determine how disease-causing genetic lesions cause deregulation of homeostas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6711af5ca38614f81c8921658e4dfcbc
https://hdl.handle.net/21.11116/0000-0007-D3BD-621.11116/0000-0006-8F81-7
https://hdl.handle.net/21.11116/0000-0007-D3BD-621.11116/0000-0006-8F81-7
Autor:
M. Zarowiecki, A. Devereau, S.M. Wood, J. M. Boissiere, G. Elgar, Cara Forster, Liesbeth Keldermans, A. Sieghart, Allyn McConkie-Rosell, Augusto Rendon, S. R. Thompson, D. Polychronopoulos, Alexandre Arkader, Julien Thevenon, D. Kasperaviciute, Alma Kuechler, Bryan L. Krock, Dominique Martin-Coignard, Damian Smedley, T. Rahim, Barbara Mikat, Amber Begtrup, Priya Prasad, Lindsay B. Henderson, A. Stuckey, Mathilde Nizon, Tim Hubbard, I. U. S. Leong, M. Bleda, L. Lahnstein, C. E. H. Craig, Bertrand Isidor, Sarah Leigh, Joanne Mason, L. Moutsianas, T. Fowler, A. Siddiq, J. Pullinger, Marco Angelozzi, J. Ambrose, S. A. Watters, Saadet Mercimek-Andrews, K. Lawson, Claudia A. L. Ruivenkamp, Ian D. Krantz, J. E. Holman, Solveig Heide, Christel Depienne, Elizabeth T. DeChene, L. C. Daugherty, Alvaro Serrano Russi, Arianna Tucci, Mark J. Caulfield, Marie T. McDonald, Boris Keren, A. C. Need, Damara Ortiz, Nicola Foulds, William Spooner, Dara Tolchin, Eduardo Calpena, C. R. Boustred, Abdul Haseeb, Rudolf Gorazd, Charles Coutton, Alona Sosinsky, D. Perez-Gil, Sarah Stewart, J. M. Hackett, Giada Melistaccio, Andrew O.M. Wilkie, Radka Stoeva, Cédric Le Caignec, Pauline Le Tanno, Benjamin Cogné, Martina Mueller, Naghmeh Dorrani, Pedro Furió-Tarí, Gijs W. E. Santen, Hermann-Josef Lüdecke, Jessica P. Yeager, Julian A. Martinez-Agosto, Damien Haye, Kieran B. Pechter, Mohnish Suri, Livija Medne, M. J. Welland, Patrick Reed, K. Savage, G. C. Chan, Anne C.H. Tsai, F. Maleady-Crowe, A. de Burca, Ellen M. McDonagh, T. Rogers, F. Boardman-Pretty, Emily Lancaster, Katherine R. Smith, Christopher A. Odhams, Véronique Lefebvre, M. Ryten, Olivier Pichon, D. Halai, Aleš Maver, Christine Patch, R. E. Foulger, Frédéric Bilan, Helen Stevens, Hilde Van Esch, Eleanor Williams, Brigitte Gilbert-Dussardier, C. Tregidgo, K. Witkowska, F. J. Lopez, Gwenaël Le Guyader, Richard H Scott, M. Kayikci, Ellen Thomas, E. Walsh
Publikováno v:
American Journal of Human Genetics, 106(6), 830-845. CELL PRESS
Am J Hum Genet
Am J Hum Genet
SOX6 belongs to a family of 20 SRY-related HMG-box-containing (SOX) genes that encode transcription factors controlling cell fate and differentiation in many developmental and adult processes. For SOX6, these processes include, but are not limited to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25e4b2005e77addcf2aa011f8a987ba7
https://www.sciencedirect.com/science/article/pii/S0002929720301245?via=ihub
https://www.sciencedirect.com/science/article/pii/S0002929720301245?via=ihub
Autor:
Gerarda Cappuccio, Camille Sayou, Pauline Le Tanno, Emilie Tisserant, Ange-Line Bruel, Sara El Kennani, Joaquim Sá, Karen J. Low, Cristina Dias, Markéta Havlovicová, Miroslava Hančárová, Evan E. Eichler, Françoise Devillard, Sébastien Moutton, Julien Van-Gils, Christèle Dubourg, Sylvie Odent, Bénédicte Gerard, Amélie Piton, Toshiyuki Yamamoto, Nobuhiko Okamoto, Helen Firth, Kay Metcalfe, Anna Moh, Kimberly A. Chapman, Erfan Aref-Eshghi, Jennifer Kerkhof, Annalaura Torella, Vincenzo Nigro, Laurence Perrin, Juliette Piard, Gwenaël Le Guyader, Thibaud Jouan, Christel Thauvin-Robinet, Yannis Duffourd, Jaya K. George-Abraham, Catherine A. Buchanan, Denise Williams, Usha Kini, Kate Wilson, Nicola Brunetti-Pierri, Giorgio Casari, Michele Pinelli, Francesco Musacchia, Margherita Mutarelli, Diego Carrella, Giuseppina Vitiello, Valeria Capra, Giancarlo Parenti, Vincenzo Leuzzi, Angelo Selicorni, Silvia Maitz, Sandro Banfi, Marcella Zollino, Mario Montomoli, Donatelli Milani, Corrado Romano, Albina Tummolo, Daniele De Brasi, Antonietta Coppola, Claudia Santoro, Angela Peron, Chiara Pantaleoni, Raffaele Castello, Stefano D’Arrigo, Sérgio B. Sousa, Raoul C.M. Hennekam, Bekim Sadikovic, Julien Thevenon, Jérôme Govin, Antonio Vitobello
Publikováno v:
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
Genetics in Medicine, Nature Publishing Group, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in Medicine, 2020, 22 (11), pp.1838-1850. ⟨10.1038/s41436-020-0898-y⟩
Genetics in medicine, 22(11), 1838-1850. Lippincott Williams and Wilkins
International audience; Purpose: Nontruncating variants in SMARCA2, encoding a catalytic subunit of SWI/SNF chromatin remodeling complex, cause Nicolaides-Baraitser syndrome (NCBRS), a condition with intellectual disability and multiple congenital an
Autor:
Laurence Faivre, Thibaud Jouan, Benjamin Cogné, Cornelia Kraus, V. Carmignac, Francis Ramond, Christiane Zweier, Emilie Tisserant, Mathilde Nizon, André Reis, Valérie Benoit, Daphné Lehalle, Antonio Vitobello, Bruno Delobel, Renaud Touraine, Thomas Smol, Arthur Sorlin, Yannis Duffourd, Sophie Naudion, Christel Thauvin-Robinet, T Bienvenu, Julien Thevenon, Caroline Thuillier, Patrick Callier, Stéphanie Moortgat, Frédéric Tran Mau-Them, Jamal Ghoumid, Christophe Philippe, Cécile Zordan, Sophie Nambot, Alain Verloes
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7d2d3d5185fd561c8a47d816dbe5cd0
https://doi.org/10.1111/cge.13755/v3/response1
https://doi.org/10.1111/cge.13755/v3/response1