Zobrazeno 1 - 10
of 121
pro vyhledávání: '"Serge Romana"'
Autor:
Kévin Uguen, Claire Jubin, Yannis Duffourd, Claire Bardel, Valérie Malan, Jean‐Michel Dupont, Laila El Khattabi, Nicolas Chatron, Antonio Vitobello, Pierre‐Antoine Rollat‐Farnier, Céline Baulard, Marc Lelorch, Aurélie Leduc, Emilie Tisserant, Frédéric Tran Mau‐Them, Vincent Danjean, Marc Delepine, Marianne Till, Vincent Meyer, Stanislas Lyonnet, Anne‐laure Mosca‐Boidron, Julien Thevenon, Laurence Faivre, Christel Thauvin‐Robinet, Caroline Schluth‐Bolard, Anne Boland, Robert Olaso, Patrick Callier, Serge Romana, Jean‐François Deleuze, Damien Sanlaville
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 3, Pp n/a-n/a (2020)
Abstract Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencin
Externí odkaz:
https://doaj.org/article/2bc4ee64a0974d0d8733a52a9dd35fe4
Autor:
Claudio Reggiani, Sandra Coppens, Tayeb Sekhara, Ivan Dimov, Bruno Pichon, Nicolas Lufin, Marie-Claude Addor, Elga Fabia Belligni, Maria Cristina Digilio, Flavio Faletra, Giovanni Battista Ferrero, Marion Gerard, Bertrand Isidor, Shelagh Joss, Florence Niel-Bütschi, Maria Dolores Perrone, Florence Petit, Alessandra Renieri, Serge Romana, Alexandra Topa, Joris Robert Vermeesch, Tom Lenaerts, Georges Casimir, Marc Abramowicz, Gianluca Bontempi, Catheline Vilain, Nicolas Deconinck, Guillaume Smits
Publikováno v:
Genome Medicine, Vol 9, Iss 1, Pp 1-20 (2017)
Abstract Background Tissue-specific integrative omics has the potential to reveal new genic elements important for developmental disorders. Methods Two pediatric patients with global developmental delay and intellectual disability phenotype underwent
Externí odkaz:
https://doaj.org/article/1e373d346a364c37be5ee81901ae9524
Autor:
Arnaud Petit, Christine Ragu, Gwendoline Soler, Chris Ottolenghi, Caroline Schluth, Isabelle Radford-Weiss, Sylvie Schneider-Maunoury, Isabelle Callebaut, Nicole Dastugue, Harry A. Drabkin, Olivier A. Bernard, Serge Romana, Virginie Penard-Lacronique
Publikováno v:
Haematologica, Vol 97, Iss 3 (2012)
Background The nucleoporin gene NUP98 is rearranged in more than 27 chromosomal abnormalities observed in childhood and adult, de novo and therapy-related acute leukemias of myeloid and T-lymphoid origins, resulting in the creation of fusion genes an
Externí odkaz:
https://doaj.org/article/238a42d855bc432a87d6c3079385f0c4
Autor:
D. Bremond-Gignac, M. Robert, A. Daruich, V. Borderie, F. Chiambaretta, S. Valleix, Dominique Bremond-Gignac, Vincent Borderie, Jean-Louis Bourges, Patrick Calvas, Frédéric Chiambaretta, Henri Copin, Vincent Daien, Antoine Labbé, Béatrice Le Bail, Bruno Mortemousque, Matthieu Robert, Jean-Michel Rozet, Arnaud Sauer, Sophie Valleix, Daniel Aberdam, Marc Abitbol, Nathalie Aidan, Isabelle Audo, Nadia Bahi-Buisson, Emmanuelle Barbieri, Fernand Basille, Aurélie Bouet, Lénaïc Bruere, Joseph Bursztyn, Béatrice Cochener-Lamard, Alejandra Daruich-Matet, Danièle Denis, Philippe Denis, Nathalie De Vergnes, Adil El Maftouhi, Audrey Forbeaux Glize, Eric Gabison, Jean Philippe Grundeler, Louis Hoffart, Sophie Igla, Gaëlle Jouanjan, Elsa Laumonier Demory, Camille Leroy, Guylène Le Meur, Zoia Mincheva, Elisabeth Plat, Charlotte Rigal-Sastourne, Serge Romana, Antoine Rousseau, Rémi Salomon, Julie Steffann, Valérie Touitou, Alain Verloes
Publikováno v:
Journal Français d'Ophtalmologie. 45:647-652
Autor:
Jérémie Rosain, Anna-Lena Neehus, Jérémy Manry, Rui Yang, Jérémie Le Pen, Wassim Daher, Zhiyong Liu, Yi-Hao Chan, Natalia Tahuil, Özden Türel, Mathieu Bourgey, Masato Ogishi, Jean-Marc Doisne, Helena M. Izquierdo, Takayoshi Shirasaki, Tom Le Voyer, Antoine Guérin, Paul Bastard, Marcela Moncada-Vélez, Ji Eun Han, Taushif Khan, Franck Rapaport, Seon-Hui Hong, Andrew Cheung, Kathrin Haake, Barbara C. Mindt, Laura Pérez, Quentin Philippot, Danyel Lee, Peng Zhang, Darawan Rinchai, Fatima Al Ali, Manar Mahmoud Ahmad Ata, Mahbuba Rahman, Jessica N. Peel, Søren Heissel, Henrik Molina, Yasemin Kendir-Demirkol, Rasheed Bailey, Shuxiang Zhao, Jonathan Bohlen, Mathieu Mancini, Yoann Seeleuthner, Marie Roelens, Lazaro Lorenzo, Camille Soudée, María Elvira Josefina Paz, María Laura González, Mohamed Jeljeli, Jean Soulier, Serge Romana, Anne-Sophie L’Honneur, Marie Materna, Rubén Martínez-Barricarte, Mathieu Pochon, Carmen Oleaga-Quintas, Alexandre Michev, Mélanie Migaud, Romain Lévy, Marie-Alexandra Alyanakian, Flore Rozenberg, Carys A. Croft, Guillaume Vogt, Jean-François Emile, Laurent Kremer, Cindy S. Ma, Jörg H. Fritz, Stanley M. Lemon, András N. Spaan, Nicolas Manel, Laurent Abel, Margaret R. MacDonald, Stéphanie Boisson-Dupuis, Nico Marr, Stuart G. Tangye, James P. Di Santo, Qian Zhang, Shen-Ying Zhang, Charles M. Rice, Vivien Béziat, Nico Lachmann, David Langlais, Jean-Laurent Casanova, Philippe Gros, Jacinta Bustamante
Publikováno v:
Cell
Cell, 2023, 186 (3), pp.621-645.e33. ⟨10.1016/j.cell.2022.12.038⟩
Cell, 2023, 186 (3), pp.621-645.e33. ⟨10.1016/j.cell.2022.12.038⟩
Inborn errors of human IFN-γ-dependent macrophagic immunity underlie mycobacterial diseases, whereas inborn errors of IFN-α/β-dependent intrinsic immunity underlie viral diseases. Both types of IFNs induce the transcription factor IRF1. We describ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2e4a4bba1d777506cff9bef2fad8f1ed
https://hal-pasteur.archives-ouvertes.fr/pasteur-04130575
https://hal-pasteur.archives-ouvertes.fr/pasteur-04130575
Autor:
Eric Vicaut, Julie Steffann, Anne-Lyse Denizot, Audrey L’Hostis, Jean-Philippe Wolf, Ahmed Ziyyat, Amira Sallem, Philippe Burlet, Sophie Favier, Serge Romana, Solohaja Faniaha Dimby, Jean-Michel Lapierre, Daniel Vaiman, Christophe Sifer, Catherine Patrat
Publikováno v:
F&S Science
F&S Science, 2021, F&S Science, 3 (1), pp.21-28. ⟨10.1016/j.xfss.2021.10.004⟩
F&S Science, 2021, F&S Science, 3 (1), pp.21-28. ⟨10.1016/j.xfss.2021.10.004⟩
Objective To analyze the effect of a fertilin-derived peptide (cFEE) on in vitro maturation of human oocytes. Design Randomized study. Setting Fertility center in an academic hospital. Patients Not applicable. Intervention Human immature germinal ves
Autor:
Manon Carles, Charlotte Sonigo, Olivier Binois, Laetitia Hesters, Julie Steffann, Serge Romana, Nelly Frydman, Anne Mayeur
Publikováno v:
Journal of gynecology obstetrics and human reproduction. 51(8)
In this study, we aimed to evaluate the pregnancy outcomes for embryos biopsied twice at cleavage and blastocyst stage for preimplantation genetic testing (PGT). This retrospective monocentric study, conducted between January 2016 and March 2021, des
Autor:
Anne-Lyse Denizot, Audrey L’Hostis, Amira Sallem, Sophie Favier, Rémi Pierre, Marcio Do Cruzeiro, Thomas Guilbert, Philippe Burlet, Jean-Michel Lapierre, Mathieu Robain, Marc Le Lorc’H, Eric Vicaut, Kalliopi Chatzovoulou, Julie Steffann, Serge Romana, Céline Méhats, Piétro Santulli, Catherine Patrat, Daniel Vaiman, Ahmed Ziyyat, Jean Philippe Wolf
Publikováno v:
FS science. 3(1)
To study the cyclic fertilin peptide effects on preimplantation human embryogenesis. Cyclic fertilin peptide reproduces the structure of the binding site of the sperm Fertilin β (also named A Disintegrin and Metalloprotease 2: ADAM2) disintegrin dom
Autor:
Romain Nicolle, Karine Siquier-Pernet, Marlène Rio, Anne Guimier, Emmanuelle Ollivier, Patrick Nitschke, Christine Bole-Feysot, Serge Romana, Alex Hastie, Vincent Cantagrel, Valérie Malan
Publikováno v:
Eur J Hum Genet
Highly identical segmental duplications (SDs) account for over 5% of the human genome and are enriched in the short arm of the chromosome 16. These SDs are susceptibility factors for recurrent chromosomal rearrangements mediated by non-allelic homolo
Autor:
Frédéric Rieux-Laucat, Serge Romana, Brigitte Bader-Meunier, Pierre Quartier, Marie-Claude Stolzenberg, Florence A Aeschlimann, Stanislas Lyonnet, Marta Bustaffa
Publikováno v:
Rheumatology. 59:e109-e111