المؤلفون: Heymann, Dominique, Javier, Muñoz-Garcia, Jorge W., Vargas-Franco, Kristina, Schiavone, Marcus T., Keatinge, Young, Robin, Jérôme, Amiaud, Laurie, Fradet, Hideo, Yagita, Jean-François, Jégou, Claudine, Blin-Wakkach, Abdelilah, Wakkach, Denis, Cochonneau, Emilie, Ollivier, Martine, Pugière, Corinne, Henriquet, Marie, Legendre, Serge, Amselem, Irina, Giurgea, Marie-Françoise, Heymann, Stéphane, Télétchéa, Frédéric, Lézot, Dominique, Heymann.

المساهمون: Department of Oncology and Metabolism Sheffield, UK, The University of Sheffield Sheffield, U.K., Nantes Université (Nantes Univ), Unité en Sciences Biologiques et Biotechnologies de Nantes (US2B), Centre National de la Recherche Scientifique (CNRS)-Nantes Université - UFR de Médecine et des Techniques Médicales (Nantes Univ - UFR MEDECINE), Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ)-Nantes Université - pôle Santé, Nantes Université (Nantes Univ)-Nantes Université (Nantes Univ), Institut de Cancérologie de l'Ouest Angers/Nantes (UNICANCER/ICO), UNICANCER, Université de Nantes (UN), Universidad de Antioquia = University of Antioquia Medellín, Colombia, University of Sheffield Sheffield, University of Edinburgh (Edin.), Sheffield Teaching Hospitals NHS Foundation Trust, Department of Immunology, Juntendo University School of Medicine, Juntendo University, Laboratoire Inflammation, Tissus épithéliaux et Cytokines (LITEC Poitiers ), Université de Poitiers = University of Poitiers (UP), Laboratoire de PhysioMédecine Moléculaire (LP2M), Université Nice Sophia Antipolis (1965 - 2019) (UNS)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UniCA), university of Montpellier, Institut régional de Cancérologie de Montpellier (ICM), Institut de recherche en cancérologie de Montpellier (IRCM - U896 Inserm - UM1), Université Montpellier 1 (UM1)-CRLCC Val d'Aurelle - Paul Lamarque-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), Sorbonne Université (SU), CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique (U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), ANR-20-CE14-0037,DIVOS,Diversité des ostéoclastes dans l'inflammation chronique : vers de nouvelles options thérapeutiques pour la destruction osseuse(2020)

المصدر: ISSN: 1838-7640 ; Theranostics ; https://hal.science/hal-04901466 ; Theranostics, In press, ⟨10.7150/thno.107340⟩.

مصطلحات موضوعية: FL CB-W DH development bone homeostasis osteoclastogenesis osteoblastogenesis protein docking, FL, CB-W, DH development, bone homeostasis, osteoclastogenesis, osteoblastogenesis, protein docking, [SCCO]Cognitive science, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology

الاتاحة: https://hal.science/hal-04901466
https://hal.science/hal-04901466v1/document
https://hal.science/hal-04901466v1/file/thno_107340s1_1.pdf
https://doi.org/10.7150/thno.107340

المؤلفون: Daniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, Fraser McPhie, Jacob R Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh K Gupta, Thomas Attard, Maimoona A Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R Fassad, David A Parry, Peter A Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares-Taie, Holly A Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A Mohamed, Stuart Aitken, Philippe Gautier, Finn R Reinholt, Robert A Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin W Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew Rogers, Jennifer A Wambach, Daniel J Wegner, Anne B Fulton, Margaret Kenna, Margaret Rosenfeld, Ingrid A Holm, Alan Quigley, Emma A Hall, Laura C Murphy, Diane M Cassidy, Alex von Kriegsheim, Jean-François Papon, Laurent Pasquier, Marlène S Murris, James D Chalmers, Claire Hogg, Kenneth A Macleod, Don S Urquhart, Stefan Unger, Timothy J Aitman, Serge Amselem, Margaret W Leigh, Michael R Knowles, Heymut Omran, Hannah M Mitchison, Alan Brown, Joseph A Marsh, Julie PI Welburn, Shih-Chieh Ti, Amjad Horani, Jean-Michel Rozet, Isabelle Perrault, Pleasantine Mill

مصطلحات موضوعية: Scottish Genomes Partnership16, Genomics England Research Consortium45, Undiagnosed Diseases Network46, Cilia, Centrioles, Animals, Mice, Knockout, Humans, Ciliary Motility Disorders, Tubulin, Protein Isoforms, Mutation, Female, Male, Axoneme

Relation: 2381/25977013.v1; https://figshare.com/articles/journal_contribution/Ciliopathy_patient_variants_reveal_organelle-specific_functions_for_TUBB4B_in_axonemal_microtubules/25977013

الاتاحة: https://figshare.com/articles/journal_contribution/Ciliopathy_patient_variants_reveal_organelle-specific_functions_for_TUBB4B_in_axonemal_microtubules/25977013

المؤلفون: Elma El Khouri, Farah Diab, Camille Louvrier, Eman Assrawi, Aphrodite Daskalopoulou, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea

المصدر: eLife, Vol 12 (2023)

مصطلحات موضوعية: A20 haploinsufficiency, A20, TNFAIP3, missense variation, pathogenic significance, proteasomal degradation, Medicine, Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://elifesciences.org/articles/81280; https://doaj.org/toc/2050-084X

URL الوصول: https://doaj.org/article/6a0d2246ad474a82a3c81c6805a3840a

المؤلفون: Serge Amselem, Sonia Gueguen, Jérôme Weinbach, Annick Clement, Paul Landais, for the RaDiCo Program

المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

مصطلحات موضوعية: Rare diseases, e-Cohorts, Mutualized platform, Cloud computing, Infrastructure-as-a service, GDPR, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/671678cf31a946c283d222d96b81ad55

المؤلفون: Raphael Borie, Caroline Kannengiesser, Laurent Gouya, Clairelyne Dupin, Serge Amselem, Ibrahima Ba, Vincent Bunel, Philippe Bonniaud, Diane Bouvry, Aurélie Cazes, Annick Clement, Marie Pierre Debray, Philippe Dieude, Ralph Epaud, Pascale Fanen, Elodie Lainey, Marie Legendre, Aurélie Plessier, Flore Sicre de Fontbrune, Lidwine Wemeau-Stervinou, Vincent Cottin, Nadia Nathan, Bruno Crestani

المصدر: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-10 (2019)

مصطلحات موضوعية: Interstitial pulmonary fibrosis, Telomerase, Surfactant, TERT, Familial, multidisciplinary discussion, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8636ea4a4a5f4fc7add9b69396ed22b1

المؤلفون: Sylvain Normand, Nadine Waldschmitt, Andreas Neerincx, Ruben Julio Martinez-Torres, Camille Chauvin, Aurélie Couturier-Maillard, Olivier Boulard, Laetitia Cobret, Fawaz Awad, Ludovic Huot, Andre Ribeiro-Ribeiro, Katja Lautz, Richard Ruez, Myriam Delacre, Clovis Bondu, Martin Guilliams, Charlotte Scott, Anthony Segal, Serge Amselem, David Hot, Sonia Karabina, Erwin Bohn, Bernhard Ryffel, Lionel F. Poulin, Thomas A. Kufer, Mathias Chamaillard

المصدر: Nature Communications, Vol 9, Iss 1, Pp 1-11 (2018)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/0cc1ce5890644caa8d427f42892418e7

المؤلفون: Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle

المصدر: EBioMedicine, Vol 36, Iss , Pp 390-400 (2018)

مصطلحات موضوعية: Medicine, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396418303840; https://doaj.org/toc/2352-3964

URL الوصول: https://doaj.org/article/eb38d45a2af84fb1a420e9f01ae4ca4c

المؤلفون: Camille Louvrier, Elma El Khouri, Martine Grall Lerosey, Pierre Quartier, Anne‐Marie Guerrot, Brigitte Bader Meunier, Julie Chican, Malaïka Mohammad, Eman Assrawi, Aphrodite Daskalopoulou, Angela Arenas Garcia, Bruno Copin, William Piterboth, Florence Dastot Le Moal, Sonia A. Karabina, Serge Amselem, Irina Giurgea

المصدر: Arthritis & Rheumatology. 75:468-474

مصطلحات موضوعية: Rheumatology, Immunology, Immunology and Allergy

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce0aa53352feb2888e5e7ae93d11a244
https://doi.org/10.1002/art.42354

المؤلفون: Riccardo Papa, Alessandro Consolaro, Francesca Minoia, Roberta Caorsi, Gianmichele Magnano, Marco Gattorno, Angelo Ravelli, Paolo Picco, Roberto Pillon, Denise Pires Marafon, Lidia Meli, Claudia Bracaglia, Andrea Taddio, Fabrizio De Benedetti, Enes Turan, Sara Sebnem Kilic, Yasuhiko Itoh, Tomoko Shigemori, Shingo Yamanishi, Hidehiko Nagasaki, Ela Tarakci, Nilay Arman, Devrim Tarakci, Yusuf S. Akgul, Ozgur Kasapcopur, Emily Wilson, Hanna Lythgoe, Eve Smith, Jenny Preston, Michael W. Beresford, Lynn R. Spiegel, Jennifer Stinson, Mark Connelly, Adam Huber, Nadia Luca, Argerie Tsimicalis, Stephanie Luca, Naweed Tajuddin, Roberta Berard, Julie Barsalou, Sarah Campillo, Brian Feldman, Shirley Tse, Paul Dancey, Ciaran Duffy, Nicole Johnson, Patrick McGrath, Natalie Shiff, Lori Tucker, Charles Victor, Chitra Lalloo, Lauren Harris, Joseph Cafazzo, Kristin Houghton, Ronald Laxer, Madeleine Rooney, Roisin Campbell, Catherine Wright, Wineke Armbrust, Otto Lelieveld, Jolanda Tuinstra, Nico Wulffraat, Joyce Bos, Jeanette Cappon, Marion van Rossum, Mariët Hagedoorn, Anna Vermé, Ylva Lampela, Ayse Huri Ozdogan, S. Ugurlu, K. Barut, A. Androvic, O. Kasapçopu, Jody Etheridge, Katie Dobson, Sue Kemp, AnnaCarin Horne, Karin Palmblad, Malin Höglund, Natalia Stepanenko, Svetlana Salugina, Evgeny Fedorov, Irina Nikishina, Maria Kaleda, Kenan Barut, Amra Adrovic, Sezgin Sahin, Laurence Toumoulin, Johnny Frossard, Stephanie Archimbaut, Anne Paitier, Rolande Guastalli, Severine Guillaume Czitrom, Sirirat Charuvanij, Chollada Chaiyadech, Takako Miyamae, Hisashi Yamanaka, Cecile Picard, Guillaume Thouvenin, Caroline Kannengiesser, Jean-Christophe Dubus, Nadia Jeremiah, Frédéric Rieux-Laucat, Bruno Crestani, Véronique Secq, Christelle Ménard, Martine Reynaud-Gaubert, Françoise Thivolet-Bejui, Philippe Reix, Alexandre Belot, Ezgi Deniz Batu, Hafize Emine Sonmez, Abdulsamet Erden, Ekim Z. Taskiran, Omer Karadag, Umut Kalyoncu, İbrahim Oncel, Berkan Kaplan, Zehra Serap Arici, Cagri Mesut Temucin, Haluk Topaloglu, Yelda Bilginer, Mehmet Alikasifoglu, Seza Ozen, Lien Van Eyck, Ellen De Langhe, Isabelle Jéru, Erika Van Nieuwenhove, Vasiliki Lagou, Paul J. Baker, Jocelyn Garcia-Perez, James Dooley, Lien De Somer, Raf Sciot, Pierre-Yves Jeandel, Julia Ruuth-Praz, Bruno Copin, Myrna Medley-Hashim, Andre Megarbane, Sinisa Savic, An Goris, Serge Amselem, Adrian Liston, Seth Masters, Carine Wouters, Nami Okamoto, Yuko Sugita, Kousuke Shabana, Takuji Murata, Hiroshi Tamai, Juliana Ferenczová, Erika Banóova, Pavol Mrážik, Veronika Vargova, Dubravko Bajramovic, Ksenija Stekic Novacki, Kristina Potocki, Marijan Frkovic, Marija Jelusic, Olga Kostareva, Svetlana Arsenyeva, Anna Shapovalenko, Lennart Jans, Nele Herregods, Jacob Jaremko, Rik Joos, Joke Dehoorne, Xenofon Baraliakos, Sofia Ramiro, Julio C. Casasola-Vargas, Désirée van der Heijde, Robert Landewé, Ruben Burgos-Vargas, Shirley M. Tse, Gerd Horneff, Kristina Unnebrink, Jaclyn K. Anderson, Aysenur Paç Kisaarslan, Betül Sözeri, Zübeyde Gündüz, Gökmen Zararsız, Hakan Poyrazoğlu, Ruhan Düşünsel, Kazutaka Ouchi, Shinji Akioka, Hiroshi Kubo, Norio Nakagawa, Hajime Hosoi, Lovro Lamot, Fran Borovecki, Sanja Kapitanovic, Kristina Gotovac, Mandica Vidovic, Mirta Lamot, Edi Paleka Bosak, Miroslav Harjacek, Ricardo A. Russo, María M. Katsicas, Ruben Burgos Vargas, Ana L. Ortiz-Peyegahud, Zhang Pingping, Mou Yikun, Qi Jun, Jiang Yutong, Gu Jieruo, Mikhail M. Kostik, Shilova Ekaterina, Ilia Avrusin, Yuriy Korin, Olga Kopchak, Eugenia Isupova, Irina Chikova, Panova Tatyana, Margarita Dubko, Vera Masalova, Ludmila Snegireva, Tatyana Kornishina, Olga Kalashnikova, Vyacheslav Chasnyk, Tatyana Likhacheva, N. Ruperto, H. I. Brunner, P. Quartier, T. Constantin, E. Alexeeva, R. Schneider, I. Kone-Paut, K. Schikler, K. Marzan, N. Wulffraat, S. Padeh, V. Chasnyk, C. Wouters, J. B. Kuemmerle-Deschner, T. Kallinich, B. Lauwerys, E. Haddad, E. Nasonov, M. Trachana, O. Vougiouka, K. Leon, A. Speziale, K. Lheritier, E. Vritzali, A. Martini, D. Lovell, PRINTO/PRCSG, Nienke Ter Haar, Rianne Scholman, Wilco de Jager, Tamar Tak, Pieter Leliefeld, Bas Vastert, Sytze de Roock, Ariane de Ganck, Nadia Ryter, Miha Lavric, Dirk Foell, Renee F. Modica, Kathleen G. Lomax, Pamela Batzel, Armelle Cassanas, Melissa E. Elder, Rina Denisova, Ekaterina Alexeeva, Saniya Valieva, Tatyana Bzarova, Kseniya Isayeva, Tatyana Sleptsova, Olga Lomakina, Alexandra Chomahidze, Margarita Soloshenko, Meyry Shingarova, Elena Kachshenko, Wilco De Jager, Sebastiaan J. Vastert, Gerdien Mijnheer, Berent J. Prakken, Nico M. Wulffraat, Hafize E. Sönmez, Asuman N. Karhan, Ezgi D. Batu, Zehra S. Arıcı, Ersin Gümüş, Hülya Demir, Aysel Yüce, Seza Özen, Jasmina Ahluwalia, Bhavneet Bharti, Sweta Rajpal, Varun Uppal, Alaknanda Walia, Surjit S. Samlok, Narender Kumar, Clarissa C. Valões, Beatriz C. Molinari, Ana Claudia G. Pitta, Natali W. Gormezano, Sylvia C. Farhat, Kátia Kozu, Adriana M. Sallum, Simone Appenzeller, Ana Paula Sakamoto, Maria T. Terreri, Rosa M. Pereira, Claudia S. Magalhães, Cássia Maria Barbosa, Francisco Hugo Gomes, Eloisa Bonfá, Clovis A. Silva, Kubra Ozturk, Zelal Ekinci, Maie Helal, Natalia Cabrera, Jean Christophe Lega, Jocelyne Drai, Rene Ecochard, O. V. Shpitonkova, N. S. Podchernyaeva, Y. O. Kostina, N. G. Dashkova, M. K. Osminina, Gozde Yucel, Ahmet Arvas, Nandini Moorthy, Paraskevi Dimou, Angela Midgley, Matthew Peak, Simon C. Satchell, Rachael D. Wright, Rachel Corkhill, Eve M. Smith, Sagar Bhattad, Amit Rawat, Surjit Singh, Anju Gupta, Deepti Suri, Martin de Boer, Taco Kuijpers, Vignesh Pandiarajan, Sapna Sandal, Sebastian Giraldo, Roy Sanguino, Adriana S. Diaz, Selcuk Uzuner, Gizem Durcan, Ali Guven Kilicoglu, Ayhan Bilgic, Kayhan Bahali, Sinem Durmus, Hafize Uzun, Nur Canpolat, Salim Caliskan, Lale Sever, Tomomi Sato, Fuminori Kimura, Wafaa Suwairi, Reem Abdwani, Abdulaziz Al Rowais, Jubran Al qanatish, Abdulrahman Al Asiri, Ekaterina Gaidar, Mikhail Kostik, Elena Serogodskaya, Tatyana Nikitina, Evgenia Isupova, Elham Sardar, Perrine Dusser, Antoine Rousseau, Marc Labetoulle, Emanuel Barreau, Bahram Bodaghi, Isabelle Kone-Paut, Ivan Foeldvari, Jordi Anton, Rosa Bou, Sheila Angeles-Han, Regitze Bangsgaard, Gabriele Brumm, Tamas Constantin, Clive Edelsten, Jens Klotsche, Kirsten Minden, Elisabetta Miserocchi, Susan Nielsen, Gabriele Simonini, Arnd Heiligenhaus, Juan Manuel Mosquera Angarita, Carmen Garcia de Vicuña, Maria Victoria Hernandez, Alfredo Adan, Victor Llorens, Rosa Alcobendas, Susana Noval, Juan Carlos Lopez Robledillo, Isabel Valls, Mari Carmen Pinedo, Alejandro Fonollosa, Jaime de Inocencio, Pilar Tejada, Beatriz Bravo, Manuel Torribio, María Jesús García de Yebenes, Jordi Antón, Uveitis Working Group of the Spanish Pediatric Rheumatology Society, Lorenza Maria Argolini, Irene Pontikaki, Maria Orietta Borghi, Laura Cesana, Barbara Castiglioni, Maurizio Gattinara, Pierluigi Meroni, Pierre Quartier, Veronique Despert, Sylvaine Poignant, Amandine Baptiste, Caroline Elie, Laurent Kodjikian, Dominique Monnet, Michel Weber, Laura Moal, LuuLy Pham, Emmanuel Barreau, Cherif Titah, Pascal Dureau, Vanessa Cecchin, Maria Elisabetta Zannin, Daniele Ferrari, Francesco Comacchio, Rolando Cimaz, Fernanda Falcini, Antonella Petaccia, Stefania Viola, Luciana Breda, Francesco La Torre, Fabio Vittadello, Giorgia Martini, Francesco Zulian, Caroline Galeotti, Guillaume Sarrabay, Olivier Fogel, Isabelle Touitou, Corinne Miceli-Richard, Isabelle Koné-Paut, Hala Etayari, Hashad Soad, Ihab El Kadry, Habibullah Eatamadi, Kais AlAlgawi, Mustafa Al Maini, Khulood Khawaja, Sophie Van den Berghe, Ilse de Schryver, Ann Raes, Lídia L. C. Teixeira, Ana Duarte, Sandra Sousa, Filipe Vinagre, Maria J. Santos, Nataly S. Shevchenko, Ludmila F. Bogmat, Marina V. Demyanenko, Navdha R. Ramchurn, Mark Friswell, Rebecca A. James, Lucy R. Wedderburn, Reshma Pattani, Clarissa A. Pilkington, Sandrine Compeyrot-Lacassagne, Ana V. Villarreal, Nydia Acevedo, Enrique Faugier, Rocio Maldonado, Dilek Yılmaz, Hilal Bektaş Uysal, Elena Kamenets, Ekaterina Zaharova, Stefka Radenska-Lopovok, Joao Nascimento, Helena Sofia, Carla Zilhão, Rui Almeida, Margarida Guedes, Murat Deveci, Svetlana Rodionovskaya, Vera Vinnikova, Irina Tsymbal, Edyta Olesińska, Jacek Postępski, Agnieszka Mroczkowska-Juchkiewicz, Agnieszka Pawłowska-Kamieniak, Beata Chrapko, Damjana Ključevšek, Nina Emeršič, Nataša Toplak, Tadej Avčin, Faina Rokhlina, Galina Glazyrina, Natalia Kolyadina, Kwangnam Kim, Sinae Eom, Daeyoung Kim, Jungwoo Rhim, Francesca Ricci, Paola Montesano, Barbara Bonafini, Veronica Medeghini, Ilaria Parissenti, Antonella Meini, Marco Cattalini, Paolo Airò, Nataliya Panko, Nataliya Shevchenko, Iryna Lebec, Yevgeniya Zajceva, Sara Rostlund, Marie André, Takuma Hara, Takayuki Kishi, Yumi Tani, Aki Hanaya, Satoru Nagata, Velma Selmanovic, Aida Omercahic-Dizdarevic, Adisa Cengic, Almira Cosickic, Aida Omerčahić Dizdarević, Gemma Lepri, Clara Malattia, Eleonora Bellucci, Marco Matucci-Cerinic, Anton Solovyev, Elena Fedotova, Ana Victoria Villarreal, Talia Diaz, Yuridiana Ramirez, Teresa Giani, Achille Marino, Daniel Hunt, Muthana Al Obaidi, Veli Veli, Charalampia Papadopoulou, Jochen Kammermeier, Anna Poluha, Gangadhara C. Bharmappanavara, Alison Kelly, Lindsay Shaw, Giovanna Ferrara, Michele Luzzati, Mattia Giovannini, Liliana Jurado, Juliana Chamorro, Lorena Sarmiento, Ester Conversano, Maria Francesca Gicchino, Giulia Macchini, Carmela Granato, Assunta Tirelli, Alma N. Olivieri, Marija Perica, Lana Tambić Bukovac, Reza Sinaei, Vadood Javadi Parvaneh, Reza Shiari, Khosro Rahmani, Fatemeh F. Mehregan, Mehrnoush Hassas Yeganeh, Inmaculada Calvo Penadés, Berta López Montesinos, Ma Isabel González Fernández, Adriana Rodríguez Vidal, Anand Prahalad Rao, Ayesha Romana, Jyothi Raghuram, Ankur Kumar, Vishali Gupta, Elif Comak, Gülşah Kaya Aksoy, Aygen Yılmaz, Atike Atalay, Mustafa Koyun, Reha Artan, Sema Akman, Maria I. Kaleda, Irina P. Nikishina, Sergei K. Soloviev, Victor A. Malievsky, Ekaterina V. Nikolaeva, Agnieszka Gazda, Beata Kołodziejczyk, Lidia Rutkowska-Sak, Angela Mauro, Pierluigi Marzuillo, Stefano Guarino, Angela La Manna

المصدر: Pediatric Rheumatology Online Journal, Vol 15, Iss S1, Pp 203-259 (2017)

مصطلحات موضوعية: Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12969-017-0143-7; https://doaj.org/toc/1546-0096

URL الوصول: https://doaj.org/article/dad9b997d71949fea6afe7bf62d4041a

المؤلفون: Effrosyni D. Manali, Marie Legendre, Nadia Nathan, Caroline Kannengiesser, Aurore Coulomb-L'Hermine, Theofanis Tsiligiannis, Pericles Tomos, Matthias Griese, Raphael Borie, Annick Clement, Serge Amselem, Bruno Crestani, Spyros A. Papiris

المصدر: ERJ Open Research, Vol 5, Iss 3 (2019)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: http://openres.ersjournals.com/content/5/3/00066-2019.full; https://doaj.org/toc/2312-0541

URL الوصول: https://doaj.org/article/50abac8096074c0985f725d9bb154f73

المؤلفون: Hussein Majdoub, Serge Amselem, Marie Legendre, Shoshana Rath, Dani Bercovich, Yardena Tenenbaum-Rakover

المصدر: Frontiers in Endocrinology, Vol 10 (2019)

مصطلحات موضوعية: POU1F1 gene, GH deficiency, GHD, central hypothyroidism, congenital hypothyroidism, CH, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fendo.2019.00381/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/3343aab6b93245849e307c6471dfb3da

المؤلفون: Chiara Olcese, Mitali P. Patel, Amelia Shoemark, Santeri Kiviluoto, Marie Legendre, Hywel J. Williams, Cara K. Vaughan, Jane Hayward, Alice Goldenberg, Richard D. Emes, Mustafa M. Munye, Laura Dyer, Thomas Cahill, Jeremy Bevillard, Corinne Gehrig, Michel Guipponi, Sandra Chantot, Philippe Duquesnoy, Lucie Thomas, Ludovic Jeanson, Bruno Copin, Aline Tamalet, Christel Thauvin-Robinet, Jean- François Papon, Antoine Garin, Isabelle Pin, Gabriella Vera, Paul Aurora, Mahmoud R. Fassad, Lucy Jenkins, Christopher Boustred, Thomas Cullup, Mellisa Dixon, Alexandros Onoufriadis, Andrew Bush, Eddie M. K. Chung, Stylianos E. Antonarakis, Michael R. Loebinger, Robert Wilson, Miguel Armengot, Estelle Escudier, Claire Hogg, UK10K Rare Group, Serge Amselem, Zhaoxia Sun, Lucia Bartoloni, Jean-Louis Blouin, Hannah M. Mitchison

المصدر: Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/42fb48d78cb043158c1b5f52a9b9ea5e

المؤلفون: Eman Assrawi, Camille Louvrier, Elma El Khouri, Jérémie Delaleu, Bruno Copin, Florence Dastot-Le Moal, William Piterboth, Marie Legendre, Sonia A Karabina, Gilles Grateau, Serge Amselem, Irina Giurgea

المساهمون: Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Service de Médecine Interne = Hôpital de jour de médecine [CHU Tenon], CHU Tenon [AP-HP], ANR-17-CE17-0021,FMFgeneToDiag,Fièvre Méditerranéenne Familiale (FMF) et maladies apparentées : des bases moléculaires et cellulaires à la mise au point de tests diagnostiques(2017), Couvet, Sandrine, Fièvre Méditerranéenne Familiale (FMF) et maladies apparentées : des bases moléculaires et cellulaires à la mise au point de tests diagnostiques - - FMFgeneToDiag2017 - ANR-17-CE17-0021 - AAPG2017 - VALID

المصدر: Rheumatology
Rheumatology, Oxford University Press (OUP), 2022, Online ahead of print. ⟨10.1093/rheumatology/keac274⟩

مصطلحات موضوعية: Male, Adult, Autoinflammatory disease, genetic counseling, Fever, TNFRSF1A, [SDV]Life Sciences [q-bio], Hereditary Autoinflammatory Diseases, TRAPS, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, [SDV] Life Sciences [q-bio], variant, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Rheumatology, Receptors, Tumor Necrosis Factor, Type I, NGS, Mutation, Humans, post-zygotic, Pharmacology (medical), Cysteine, mosaic

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9768633ff2ad4f4ef8f4569611d4ffa4
https://doi.org/10.1093/rheumatology/keac274

المؤلفون: Claire Jumeau, Fawaz Awad, Eman Assrawi, Laetitia Cobret, Philippe Duquesnoy, Irina Giurgea, Dominique Valeyre, Gilles Grateau, Serge Amselem, Jean-François Bernaudin, Sonia-Athina Karabina

المصدر: PLoS ONE, Vol 14, Iss 5, p e0217005 (2019)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/4a732e9d6af14e98918f79b1410af891

المؤلفون: Imed Mabrouk, Nawal Al-Harthi, Rahma Mani, Guy Montantin, Sylvie Tissier, Rihab Lagha, Fethi Ben Abdallah, Mohamad M. Hassan, Majid Alhomrani, Ahmed Gaber, Walaa F. Alsanie, Hanadi Ouali, Fatma A. Jambi, Talal M. Almaghamsi, Nawal A. Alqarni, Nawaf A. Alfarsi, Khadija Kashgari, Hasna J. Al-Zahrani, Zamel A. Al-Shamary, Abdullah Al-Harbi, Serge Amselem, Estelle Escudier, Marie Legendre

المصدر: Journal of Human Genetics. 67:381-386

مصطلحات موضوعية: Cytoskeletal Proteins, Kartagener Syndrome, Mutation, Saudi Arabia, Genetics, High-Throughput Nucleotide Sequencing, Humans, Founder Effect, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d759d8adafe10b5b6a4b47a39483c1f
https://doi.org/10.1038/s10038-021-01006-9

المؤلفون: Nicolas Martin Silva, Hubert de Boysson, Sophie Georgin-Lavialle, Samuel Deshayes, A. Dumont, Elma El Khouri, Achille Aouba, Serge Amselem, Isabelle Ollivier, Irina Giurgea, Isabelle Koné-Paut, Céline Bazille

المساهمون: CHU Caen, Normandie Université (NU)-Tumorothèque de Caen Basse-Normandie (TCBN), Université de Caen Normandie (UNICAEN), Normandie Université (NU), Sorbonne Université (SU), Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Couvet, Sandrine

المصدر: Liver International
Liver International, 2021, 41 (8), pp.1894-1900. ⟨10.1111/liv.14935⟩

مصطلحات موضوعية: Liver Cirrhosis, Heterozygote, medicine.medical_specialty, Anti-nuclear antibody, [SDV]Life Sciences [q-bio], Folliculitis, Haploinsufficiency, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Gastroenterology, Young Adult, 03 medical and health sciences, Pernicious anaemia, Pericarditis, 0302 clinical medicine, oral and genital aphthosis, Internal medicine, Humans, Medicine, hepatic fibrosis, A20 haploinsufficiency, TNFAIP3, Aged, Retrospective Studies, Autoimmune disease, Hepatology, business.industry, NF-kappa B, medicine.disease, Pustulosis, [SDV] Life Sciences [q-bio], [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, 030220 oncology & carcinogenesis, Female, 030211 gastroenterology & hepatology, medicine.symptom, business, Hepatic fibrosis

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f602cff6c36bb5bd7914970c38f4ac2
https://doi.org/10.1111/liv.14935

المؤلفون: Javier Muñoz-Garcia, Dominique Heymann, Irina Giurgea, Marie Legendre, Serge Amselem, Beatriz Castañeda, Frédéric Lézot, Jorge William Vargas-Franco

المصدر: Biochemical Pharmacology. 213:115584

مصطلحات موضوعية: Pharmacology, Biochemistry

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::42d69b8f09337db65d7bf05671ab9b59
https://doi.org/10.1016/j.bcp.2023.115584

المؤلفون: Elma El Khouri, Camille Louvrier, Eman Assrawi, Alexandre Nguyen, William Piterboth, Samuel Deshayes, Alexandra Desdoits, Bruno Copin, Florence Dastot Le Moal, Sonia-Athina Karabina, Serge Amselem, Achille Aouba, Irina Giurgea

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::d83d522c934252050ed9dd53037f0a4b
https://doi.org/10.1101/2022.07.29.502017

المؤلفون: Fawaz Awad, Eman Assrawi, Claire Jumeau, Sophie Georgin-Lavialle, Laetitia Cobret, Philippe Duquesnoy, William Piterboth, Lucie Thomas, Katia Stankovic-Stojanovic, Camille Louvrier, Irina Giurgea, Gilles Grateau, Serge Amselem, Sonia-Athina Karabina

المصدر: PLoS ONE, Vol 12, Iss 4, p e0175336 (2017)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC5389804?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/e411abc7df9946bca63ba97d0c5193be

المؤلفون: Marie Legendre, Guillaume Thouvenin, Jessica Taytard, Marguerite Baron, Muriel Le Bourgeois, Aline Tamalet, Rahma Mani, Gregory Jouvion, Serge Amselem, Estelle Escudier, Nicole Beydon

المساهمون: Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), UF de Génétique moléculaire [CHU Trousseau], CHU Trousseau [APHP], Centre de Recherche Saint-Antoine (CRSA), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Centre National de Référence des Maladies Respiratoires Rares, Neurophysiologie Respiratoire Expérimentale et Clinique (UMRS 1158), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Service de Pneumologie Allergologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Sousse, Service de physiologie, unité fonctionnelle d’explorations respiratoires [CHU Trousseau], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Couvet, Sandrine

المصدر: Annals of the American Thoracic Society
Annals of the American Thoracic Society, 2022, 19 (10), pp.1704-1712. ⟨10.1513/AnnalsATS.202110-1175OC⟩

مصطلحات موضوعية: Pulmonary and Respiratory Medicine, MESH: Amino Acids, Genotype, bronchiectasis, [SDV]Life Sciences [q-bio], genetic analysis, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, Nitric Oxide, MESH: Genotype, MESH: Cilia, MESH: Child, Humans, Cilia, Amino Acids, Child, Retrospective Studies, MESH: Humans, Kartagener Syndrome, MESH: Retrospective Studies, ultrastructure, [SDV] Life Sciences [q-bio], cilia motility, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, MESH: Nitric Oxide, MESH: Kartagener Syndrome, MESH: Ciliary Motility Disorders, Ciliary Motility Disorders

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b95e8761b4a50bfb9d9b24c482d913e
https://pubmed.ncbi.nlm.nih.gov/35622418