Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Jean‐François Deleuze"'
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:
James W. Wheless, Thierry Frebourg, Robert Olaso, Rosemarie Smith, Kelly Nori, François Lecoquierre, Delphine Héron, Roseline Caumes, Anne Boland, Ange-Line Bruel, Candy Kumps, Gaël Nicolas, Sarah Stewart, Sophie Rondeau, Diane Doummar, Marlène Rio, Giulia Barcia, Anne-Marie Guerrot, Gwenaël Le Guyader, Alexandra Afenjar, Sarah Vergult, Karine Poirier, Juliette Coursimault, Jennifer Morrison, Amy Kritzer, Anne-Sophie Alaix, Rebecca Hernan, Anne-Sophie Denommé-Pichon, Sabine Sigaudy, Christine Coubes, Pascale Saugier-Veber, Francisca Millan Zamora, Austin Larson, Michelle M. Morrow, Christine Poitou, Björn Menten, Mathilde Nizon, Thomas Smol, Elise Schaefer, Bénédicte Gérard, Charles Coutton, Salima El Chehadeh, Fanggeng Zou, Stéphanie Valence, Anita Shanmugham, Wendy K. Chung, Bert Callewaert, Christina Kresge, Arnold Munnich, Beth A. Pletcher, Laurence Faivre, Estelle Colin, Laurence Colleaux, Patricia G Wheeler, Annelies Dheedene, Frédéric Tran Mau-Them, Jean-François Deleuze, Claude Houdayer, Jeanne Amiel, Frédéric Bilan, Marine Tessarech, Bertrand Isidor, Guillaume Jouret, Cyril Mignot, Benjamin Cogné, Shuxi Liu, Boris Keren, Françoise Devillard, Catherine Schramm, Margaret Helm
Publikováno v:
Human Genetics
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2022, 141 (1), pp.65-80. ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, Springer Verlag, 2021, ⟨10.1007/s00439-021-02383-z⟩
Human Genetics, 2021, ⟨10.1007/s00439-021-02383-z⟩
International audience; Pathogenic variants of the myelin transcription factor-1 like (MYT1L) gene include heterozygous missense, truncating variants and 2p25.3 microdeletions and cause a syndromic neurodevelopmental disorder (OMIM#616,521). Despite
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d62d99917d3e3b78e73c61b6c495303
https://hal.science/hal-03820933
https://hal.science/hal-03820933
Autor:
Laurence Faivre, Natáliya Tkachenko, Celia Azevedo Soares, Annick Toutain, Marlène Rio, Anne Boland, Kendra Engleman, Eléonore Viora-Dupont, Kévin Uguen, Cédric Le Maréchal, Yang Cao, Sophie Rondeau, Kilannin Krysiak, Jean-François Deleuze, Caroline Benech, Frédéric Tran Mau-Them, Sylvie Odent, Jorge L. Granadillo, Dominique Bonneau, Claude Férec, Ibrahim Elsharkawi, Séverine Audebert-Bellanger, Julie Neidich, Stéphane Bézieau, Brigitte Gilbert-Dussardier, Elena Repnikova, Sylvia Redon, Shivarajan Manickavasagam Amudhavalli
Publikováno v:
Clinical Genetics
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Clinical Genetics, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
Clinical Genetics, Wiley, 2021, 100 (4), pp.386-395. ⟨10.1111/cge.14015⟩
International audience; 13q12.3 microdeletion syndrome is a rare cause of syndromic intellectual disability. Identification and genetic characterization of patients with 13q12.3 microdeletion syndrome continues to expand the phenotypic spectrum assoc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70d1bcd7711d96dc78962a4e36e16a58
https://hal.science/hal-03282329
https://hal.science/hal-03282329
Autor:
Carole Rubino, Pascal Guénel, Emilie Cordina-Duverger, Françoise Borson-Chazot, Vincent Souchard, Pierre Laurent-Puig, Florent de Vathaire, Thérèse Truong, Julie Guibon, Anne-Valérie Guizard, Mojgan Karimi, Elizabeth Adjadj, Catherine Ory, Hélène Blanché, Jean-Baptiste Cazier, Sylvie Chevillard, Martin Schlumberger, Constance Xhaard, Claire Schvartz, Yan Ren, Fabienne Lesueur, Jean-François Deleuze, Anne Boland, Mohammed Zakarya Zemmache, Sandra Canale, Eugènia Mariné Barjoan, Claire Mulot, Monia Zidane
Publikováno v:
Cancer Epidemiology, Biomarkers and Prevention
Cancer Epidemiology, Biomarkers and Prevention, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩
Cancer Epidemiology, Biomarkers and Prevention, American Association for Cancer Research, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩
Cancer Epidemiology, Biomarkers and Prevention, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩
Cancer Epidemiology, Biomarkers and Prevention, American Association for Cancer Research, 2021, 30 (6), pp.1208-1217. ⟨10.1158/1055-9965.EPI-20-1142⟩
Background: Given the increased use and diversity of diagnostic procedures, it is important to understand genetic susceptibility to radiation-induced thyroid cancer. Methods: On the basis of self-declared diagnostic radiology examination records in a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a0a4febf253fc512ee01a2212accfce
https://hal.univ-lorraine.fr/hal-03378112
https://hal.univ-lorraine.fr/hal-03378112
Autor:
Claire Mulot, Frédérique Rachédi, Pascal Guénel, Om Kulkarni, Claire Schvartz, Anne Boland-Auge, Evgenia Ostroumova, Ausrele Kesminiene, Anne-Valérie Guizard, Julie Guibon, Christine Lonjou, Juan J Lence-Anta, Rosa Ortiz, Vincent Souchard, Thérèse Truong, Robert Olaso, Carole Rubino, Constance Xhaard, Delphine Bacq-Daian, Florent de Vathaire, Fabienne Lesueur, Jean-François Deleuze, Pierre-Emmanuel Sugier, Marie-Christine Boutron-Ruault, Pierre Laurent-Puig
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
Scientific Reports
Scientific Reports, 2021, 11 (1), pp.8932. ⟨10.1038/s41598-021-88253-0⟩
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.8932. ⟨10.1038/s41598-021-88253-0⟩
Scientific Reports
Scientific Reports, 2021, 11 (1), pp.8932. ⟨10.1038/s41598-021-88253-0⟩
Scientific Reports, Nature Publishing Group, 2021, 11 (1), pp.8932. ⟨10.1038/s41598-021-88253-0⟩
Variants identified in earlier genome-wide association studies (GWAS) on differentiated thyroid carcinoma (DTC) explain about 10% of the overall estimated genetic contribution and could not provide complete insights into biological mechanisms involve
Autor:
Marie Zins, Jerome Nicol, Florence Jusot, Cindy Lai, Adeline Renuy, Sofiane Kab, Toscane Fourié, Xavier de Lamballerie, Nathalie Bajos, Fabien Szabo de Edelenyi, Laurence Meyer, Fanny Artaud, Nathalie Lydié, Younes Esseddik, Mathilde Touvier, Gianluca Severi, Stéphane Priet, Fabrice Carrat, Paola Mariela Saba Villarroel, Alexandra Rouquette, Jean-Marie Gagliolo, Nathalie Druesne-Pecollo, Clovis Lusivika-Nzinga, Pierre-Yves Ancel, Marie-Aline Charles, Nathanael Lapidus, Hélène Blanché, Delphine Rahib, Stephane Legot, Jean-François Deleuze
Publikováno v:
International Journal of Epidemiology
International Journal of Epidemiology, 2021, 50 (5), pp.1458-1472. ⟨10.1093/ije/dyab110⟩
International Journal of Epidemiology, 2021, 50 (5), pp.1458-1472. ⟨10.1093/ije/dyab110⟩
Background We aimed to estimate the seropositivity to anti-SARS-CoV-2 antibodies in May–June 2020 after the first lockdown period in adults living in three regions in France and to identify the associated risk factors. Methods Between 4 May 2020 an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2929740e27d93d32f8db28f665184895
https://hal.science/hal-03600604
https://hal.science/hal-03600604
Autor:
Giorgio Tasca, Laxmikanth Kollipara, Francesco Ricci, Adele D'Amico, Rita Barresi, Laura E. Swan, Isabelle Nelson, Anne Boland, Hanns Lochmüller, Annalaura Torella, Ronald D. Cohn, Fabiana Fattori, Dan Cox, Ingo Feldmann, Denisa Hathazi, Heinz Jungbluth, Rita Horvath, Jennifer Baumann, Marie-Line Jacquemont, Jean-François Deleuze, Gisèle Bonne, Robert-Yves Carlier, Emily O'Connor, René P. Zahedi, Andoni Urtizberea, Emily Robinson, Richard Charlton, Andreas Roos
Publikováno v:
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain
Brain-A Journal of Neurology, Oxford University Press (OUP), 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
Brain-A Journal of Neurology, 2021, 144 (8), pp.2427-2442. ⟨10.1093/brain/awab133⟩
BRAIN
Brain
Marinesco-Sjögren syndrome is a rare human disorder caused by biallelic mutations in SIL1 characterized by cataracts in infancy, myopathy and ataxia, symptoms which are also associated with a novel disorder caused by mutations in INPP5K. While these
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce027d8d9bbbf23fbe33072ea746d16c
https://www.ncbi.nlm.nih.gov/pubmed/33792664
https://www.ncbi.nlm.nih.gov/pubmed/33792664
Autor:
Juliette Nectoux, Isabelle Nelson, Hunter Best, Anne-Sophie Lia, Cécile Masson, Lucie Guyant-Maréchal, Jean Michel Pedespan, Karima Ghorab, Marie Anne Barthez, Youna Ha, Jean-François Deleuze, Rong Mao, Cécile Laroche-Raynaud, Kathryn J. Swoboda, Xavier Hernandorena, Yue Si, Annick Toutain, Louis Viollet
Publikováno v:
European Journal of Medical Genetics
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩
European Journal of Medical Genetics, Elsevier, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩
European Journal of Medical Genetics, 2020, 63 (12), pp.104063. ⟨10.1016/j.ejmg.2020.104063⟩
International audience; Objective: To perform genotype-phenotype, clinical and molecular analysis in a large 3-generation family with autosomal dominant congenital spinal muscular atrophy.Methods: Using a combined genetic approach including whole gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e224ac54b05249f7407c0588a4d241b
https://hal.sorbonne-universite.fr/hal-03182670
https://hal.sorbonne-universite.fr/hal-03182670
Autor:
Antoine Daunay, Laura G. Baudrin, Imene Garali, Victor Renault, Yosra Bouyacoub, Alexandre How-Kit, Jean-François Deleuze, Mourad Sahbatou
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-10 (2020)
Several blood-based age prediction models have been developed using less than a dozen to more than a hundred DNA methylation biomarkers. Only one model (Z-P1) based on pyrosequencing has been developed using DNA methylation of a single locus located