Zobrazeno 1 - 10
of 65
pro vyhledávání: '"Jean‐François Deleuze"'
Autor:
Robert Olaso, Adeline Prost, Anne-Sophie Denommé-Pichon, Magali Gorce, Anne Boland, Mélanie Fradin, Magalie Barth, Mathilde Nizon, Antonio Vitobello, Dominique Bonneau, Bertrand Isidor, Christel Thauvin-Robinet, Frédéric Tran Mau-Them, Victor Couturier, Caroline Racine, Céline Besse, Marie Vincent, Bertrand Fin, Yline Capri, Alban Ziegler, Ange-Line Bruel, Yannis Duffourd, Christophe Philippe, P. Callier, Sébastien Moutton, Aurore Garde, Médéric Jeanne, Annick Toutain, Sophie Nambot, Delphine Bacq-Daian, Charlotte Poë, Emilie Tisserant, Aurélien Juven, Julien Van-Gils, Tiffany Busa, Laurent Pasquier, Sabine Sigaudy, Arthur Sorlin, Thibaud Jouan, Philippine Garret, Corinne Chantegret, Julian Delanne, Cyril Flamant, Alinoë Lavillaureix, Clement Prouteau, Paul Rollier, Laurence Faivre, Jean-François Deleuze
Publikováno v:
Eur J Hum Genet
Obtaining a rapid etiological diagnosis for infants with early-onset rare diseases remains a major challenge. These diseases often have a severe presentation and unknown prognosis, and the genetic causes are very heterogeneous. In a French hospital n
Autor:
Daniela, Matuozzo, Estelle, Talouarn, Astrid, Marchal, Jeremy, Manry, Yoann, Seeleuthner, Yu, Zhang, Alexandre, Bolze, Matthieu, Chaldebas, Baptiste, Milisavljevic, Peng, Zhang, Adrian, Gervais, Paul, Bastard, Takaki, Asano, Lucy, Bizien, Federica, Barzaghi, Hassan, Abolhassani, Ahmad Abou, Tayoun, Alessandro, Aiuti, Ilad Alavi, Darazam, Luis M, Allende, Rebeca, Alonso-Arias, Andrés Augusto, Arias, Gokhan, Aytekin, Peter, Bergman, Simone, Bondesan, Yenan T, Bryceson, Ingrid G, Bustos, Oscar, Cabrera-Marante, Sheila, Carcel, Paola, Carrera, Giorgio, Casari, Khalil, Chaïbi, Roger, Colobran, Antonio, Condino-Neto, Laura E, Covill, Loubna, El Zein, Carlos, Flores, Peter K, Gregersen, Marta, Gut, Filomeen, Haerynck, Rabih, Halwani, Selda, Hancerli, Lennart, Hammarström, Nevin, Hatipoğlu, Adem, Karbuz, Sevgi, Keles, Christèle, Kyheng, Rafael, Leon-Lopez, Jose Luis, Franco, Davood, Mansouri, Javier, Martinez-Picado, Ozge Metin, Akcan, Isabelle, Migeotte, Pierre-Emmanuel, Morange, Guillaume, Morelle, Andrea, Martin-Nalda, Giuseppe, Novelli, Antonio, Novelli, Tayfun, Ozcelik, Figen, Palabiyik, Qiang, Pan-Hammarström, Rebeca, Pérez de Diego, Laura, Planas-Serra, Daniel E, Pleguezuelo, Carolina, Prando, Aurora, Pujol, Luis Felipe, Reyes, Jacques G, Rivière, Carlos, Rodriguez-Gallego, Julian, Rojas, Patrizia, Rovere-Querini, Agatha, Schlüter, Mohammad, Shahrooei, Ali, Sobh, Pere, Soler-Palacin, Yacine, Tandjaoui-Lambiotte, Imran, Tipu, Cristina, Tresoldi, Jesus, Troya, Diederik, van de Beek, Mayana, Zatz, Pawel, Zawadzki, Saleh Zaid, Al-Muhsen, Hagit, Baris-Feldman, Manish J, Butte, Stefan N, Constantinescu, Megan A, Cooper, Clifton L, Dalgard, Jacques, Fellay, James R, Heath, Yu-Lung, Lau, Richard P, Lifton, Tom, Maniatis, Trine H, Mogensen, Horst, von Bernuth, Alban, Lermine, Michel, Vidaud, Anne, Boland, Jean-François, Deleuze, Robert, Nussbaum, Amanda, Kahn-Kirby, France, Mentre, Sarah, Tubiana, Guy, Gorochov, Florence, Tubach, Pierre, Hausfater, Isabelle, Meyts, Shen-Ying, Zhang, Anne, Puel, Luigi D, Notarangelo, Stephanie, Boisson-Dupuis, Helen C, Su, Bertrand, Boisson, Emmanuelle, Jouanguy, Jean-Laurent, Casanova, Qian, Zhang, Laurent, Abel, Aurélie, Cobat
Publikováno v:
Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual)
Universidade de São Paulo (USP)
instacron:USP
medRxiv
Universidade de São Paulo (USP)
instacron:USP
medRxiv
BackgroundWe previously reported inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity in 1-5% of unvaccinated patients with life-threatening COVID-19, and auto-antibodies against type I IFN in another 15-20% of cases.MethodsWe r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9c2b2b888dfa2d32ea41a056674b1215
https://doi.org/10.1101/2022.10.22.22281221
https://doi.org/10.1101/2022.10.22.22281221
Autor:
Marie Rivera-Zengotita, Alison M. Barnard, Sanna Puusepp, Anna Łusakowska, Ros Quinlivan, Margherita Milone, Isabelle Draper, Katherine R. Chao, Erica L. Macke, Mait Nigul, Teepu Siddique, Vijay S. Ganesh, Sander Pajusalu, Nicolas Deconinck, Sanna Gudmundsson, Masashi Ogasawara, Sandra Donkervoort, Christine C. Bruels, Glenn A. Walter, Ehsan Ghayoor Karimiani, Christina A. Pacak, Reza Maroofian, Sabine Costagliola, Julia K. Goodrich, Anne H. O’Donnell-Luria, Mehran Beiraghi Toosi, Sandra Coppens, Yao Meng, Lynn Pais, Henry Houlden, Eleina M. England, Rasha El Sherif, Anne Boland-Auge, Bertold Schrank, Volker Straub, Gisèle Bonne, Catheline Vilain, Payam Mohassel, Tanya Stojkovic, Isabelle Nelson, Ichizo Nishino, Stefan Nicolau, Anna Kostera-Pruszczyk, Ben Weisburd, Jean-François Deleuze, Enzo Cohen, Michael G. Hanna, Hazim Kadhim, Peter B. Kang, Dorianmarie Vargas-Franco, Penny A. Handford, Katrin Õunap, Pilvi Ilves, Ana Töpf, Carsten G. Bönnemann, Brendan C. Lanpher, Eric W. Klee, Andreas Hahn
Publikováno v:
The American Journal of Human Genetics
Am J Hum Genet
Am J Hum Genet
JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes to the development and homeostasis of multiple tissues, including skeletal muscle. We studied an international cohort of 23 individuals with genetically unsolved
Autor:
Jean-François Deleuze, Léa Meunier, Amélie Roehrig, Emmanuel Jacquemin, Victor Renault, Florent Guérin, Stefano Caruso, Sophie Taque, Isabelle Aerts, Catherine Guettier, Monique Fabre, Emmanuel Gonzales, Jill Pilet, Brice Fresneau, Sandra Rebouissou, Laura Molina, C. Chardot, Eric Letouzé, Benedict J.E. Monteiro, Véronique Laithier, Eric Trepo, Quentin Bayard, Jessica Zucman-Rossi, Guillaume Morcrette, Sophie Branchereau, Laurence Brugières, Théo Z. Hirsch
Publikováno v:
Cancer Discovery
Cancer Discovery, American Association for Cancer Research, 2021, pp.candisc.1809.2020. ⟨10.1158/2159-8290.CD-20-1809⟩
Cancer Discov
Cancer discovery
Cancer Discovery, 2021, pp.candisc.1809.2020. ⟨10.1158/2159-8290.CD-20-1809⟩
Cancer Discovery, American Association for Cancer Research, 2021, pp.candisc.1809.2020. ⟨10.1158/2159-8290.CD-20-1809⟩
Cancer Discov
Cancer discovery
Cancer Discovery, 2021, pp.candisc.1809.2020. ⟨10.1158/2159-8290.CD-20-1809⟩
Pediatric liver cancers (PLCs) comprise diverse diseases affecting infants, children and adolescents. Despite overall good prognosis, PLCs display heterogeneous response to chemotherapy. Integrated genomic analysis of 126 pediatric liver tumors showe
Autor:
Corinne Stoetzel, Richard Redon, Erica E. Davis, Véronique Geoffroy, Jean-Louis Mandel, Georgios Kellaris, Samuel Nicaise, Joakim Klar, Clarisse Delvallée, Anne Sophie Leuvrey, Florence Demurger, Manuela Antin, Emmanuelle Génin, Boris Keren, Nicholas Katsanis, Niklas Dahl, Sophie Scheidecker, Elsa Nourisson, Jean Muller, Hélène Dollfus, Jean-François Deleuze, Christel Depienne, Michèle Mathieu-Dramard, Christine Poitou-Bernert, Carmen C. Leitch, Koenraad Devriendt, Sylvie Odent
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clinical Genetics, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
Clin Genet
Clinical Genetics, Wiley, 2021, 99 (2), pp.318-324. ⟨10.1111/cge.13878⟩
International audience; Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinitis pigmentosa, obesity, polydactyly, cognitive impairment and renal failure. Pathogenic variants in 24 genes account for the molecular basis of >80% of cases.
Autor:
Anne-Claire Richard, Anne Rovelet-Lecrux, Dominique Campion, Sophie Coutant, Kilan Le Guennec, Jean-François Deleuze, Gaëlle Bougeard, Mathieu Castelain, Nathalie Drouot, Pascal Chambon, Stéphanie Vasseur, Thierry Frebourg, Jacqueline Bou, François Lecoquierre, Anne Boland, Géraldine Joly-Helas, Kévin Cassinari, Gaël Nicolas, Stéphane Rousseau, Steeve Fourneaux, Gwendoline Lienard, Edwige Kasper, Myriam Vezain, Pascale Saugier-Veber, Isabelle Tournier, Nathalie Le Meur, Olivier Quenez, Françoise Charbonnier, Emilie Bouvignies, Virginie N'Guyen-Viet, Stéphanie Baert-Desurmont, Sandrine Manase
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
European Journal of Human Genetics, Nature Publishing Group, 2020, ⟨10.1038/s41431-020-0672-2⟩
European Journal of Human Genetics, 2020, ⟨10.1038/s41431-020-0672-2⟩
Eur J Hum Genet
International audience; The detection of copy-number variations (CNVs) from NGS data is underexploited as chip-based or targeted techniques are still commonly used. We assessed the performances of a workflow centered on CANOES, a bioinformatics tool
Autor:
Francesc Castro-Giner, Dave Singh, Antje Prasse, Joachim Müller-Quernheim, David G. Parr, Piera Boschetto, Lidia Agueda, Sophia Derdak, Jean-François Deleuze, Katherine Apunte-Ramos, Loems Ziegler-Heitbrock, Marta Gut, Gian-Andri Thun, Mariarita Stendardo, Matthias Wjst, Timm Greulich, Adam Nowinski, Marion S Heiss-Neumann, Dorota Górecka, Anne Boland, Ivo Gut, Tobias Welte, Imre Barta, Jens M. Hohlfeld, Umme Kolsum, Balazs Dome, Christopher E. Brightling
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports
Sci. Rep. 9:20158 (2019)
Scientific Reports
Sci. Rep. 9:20158 (2019)
Chronic obstructive pulmonary disease (COPD) is induced by cigarette smoking and characterized by inflammation of airway tissue. Since smokers with COPD have a higher risk of developing lung cancer than those without, we hypothesized that they carry
Autor:
Denis Pierron, Caroline Costedoat, Thierry Letellier, Omar Alva, Minah Randriamialisoa, Harilanto Razafindrazaka, Michel Signoli, Veronica Pereda-Loth, Camille Ferdenzi, Jean-François Deleuze, Thierry Talou, Catherine Rouby, Monique Courtade-Saïdi, Margit Heiske, Anne Boland, Chantal Radimilahy, Moustafa Bensafi
Publikováno v:
Brain Sciences
Brain Sciences, MDPI, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Brain Sciences, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Brain Sciences, Vol 11, Iss 1405, p 1405 (2021)
Volume 11
Issue 11
Brain Sciences, MDPI, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Brain Sciences, 2021, 11 (11), pp.1405. ⟨10.3390/brainsci11111405⟩
Brain Sciences, Vol 11, Iss 1405, p 1405 (2021)
Volume 11
Issue 11
International audience; While recent advances in genetics make it possible to follow the genetic exchanges between populations and their phenotypic consequences, the impact of the genetic exchanges on the sensory perception of populations has yet to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2f2d29122395492868707df87a65a6b
https://hal.archives-ouvertes.fr/hal-03412591
https://hal.archives-ouvertes.fr/hal-03412591
Autor:
C. Drogou, Anne Boland, Robert Olaso, Mounir Chennaoui, Céline Derbois, Fabien Sauvet, Claire Thomas, Jean-François Deleuze, Maxime Prost, D. Gomez-Merino, Pascal Van Beers, Damien Leger, Mathias Guillard, Mégane Erblang, Rodolphe Dorey, Michael Quiquempoix, Arnaud Rabat
Publikováno v:
Life; Volume 11; Issue 10; Pages: 1110
Life
Life, Vol 11, Iss 1110, p 1110 (2021)
Life
Life, Vol 11, Iss 1110, p 1110 (2021)
Several genetic polymorphisms differentiate between healthy individuals who are more cognitively vulnerable or resistant during total sleep deprivation (TSD). Common metrics of cognitive functioning for classifying vulnerable and resilient individual
Autor:
Yannis Duffourd, Catherine Sarret, B. Catteau, Rachel G. Knox, Chloé Quélin, Cyril Mignot, Martin Chevarin, P. Callier, Diana Rodriguez, Alexis Arzimanoglou, Robert Olaso, David Geneviève, Arthur Sorlin, Sylvie Odent, Christel Thauvin, Victoria E. R. Parker, Pierre Vabres, Louise Goujon, Malika Keddar, Melissa Riachi, Sylvie Fraitag, Laurence Faivre, Emmanuelle Blanchard, Satyamaanasa Polubothu, Marie-Line Jacquemont, Jean-Baptiste Rivière, Anne Boland, Jean-François Deleuze, Paul Rollier, Véronique Darmency, Marie-Hélène Aubriot-Lorton, Yline Capri, V. Carmignac, Daniel Amram, Catherine Vincent-Delorme, Paul Kuentz, Marc Delepine, Didier Bessis, Robert K. Semple, Sarah Grotto, Veronica A. Kinsler, Laurent Guibaud, Christophe Philippe, Jean-Benoît Courcet
Publikováno v:
Carmignac, V, Mignot, C, Blanchard, E, Kuentz, P, Aubriot-Lorton, M-H, Parker, V E R, Sorlin, A, Fraitag, S, Courcet, J-B, Duffourd, Y, Rodriguez, D, Knox, R G, Polubothu, S, Boland, A, Olaso, R, Delepine, M, Darmency, V, Riachi, M, Quelin, C, Rollier, P, Goujon, L, Grotto, S, Capri, Y, Jacquemont, M-L, Odent, S, Amram, D, Chevarin, M, Vincent-Delorme, C, Catteau, B, Guibaud, L, Arzimanoglou, A, Keddar, M, Sarret, C, Callier, P, Bessis, D, Geneviève, D, Deleuze, J-F, Thauvin, C, Semple, R K, Philippe, C, Rivière, J-B, Kinsler, V A, Faivre, L & Vabres, P 2021, ' Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities. ', Genetics in Medicine . https://doi.org/10.1038/s41436-021-01161-6
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
Genetics in Medicine
Genet Med
Genetics in Medicine, 2021, 23 (8), pp.1484-1491. ⟨10.1038/s41436-021-01161-6⟩
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 delineate further the pigmentary skin phenotype and clinical spectrum of neurodevelopmental
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56e9636f25224977f95394e626ab0731
https://www.repository.cam.ac.uk/handle/1810/326616
https://www.repository.cam.ac.uk/handle/1810/326616