Zobrazeno 1 - 10
of 117
pro vyhledávání: '"Robert Olaso"'
Autor:
Isabel Alves, Joanna Giemza, Michael G. B. Blum, Carolina Bernhardsson, Stéphanie Chatel, Matilde Karakachoff, Aude Saint Pierre, Anthony F. Herzig, Robert Olaso, Martial Monteil, Véronique Gallien, Elodie Cabot, Emma Svensson, Delphine Bacq, Estelle Baron, Charlotte Berthelier, Céline Besse, Hélène Blanché, Ozvan Bocher, Anne Boland, Stéphanie Bonnaud, Eric Charpentier, Claire Dandine-Roulland, Claude Férec, Christine Fruchet, Simon Lecointe, Edith Le Floch, Thomas E. Ludwig, Gaëlle Marenne, Vincent Meyer, Elisabeth Quellery, Fernando Racimo, Karen Rouault, Florian Sandron, Jean-Jacques Schott, Lourdes Velo-Suarez, Jade Violleau, Eske Willerslev, Yves Coativy, Mael Jézéquel, Daniel Le Bris, Clément Nicolas, Yvan Pailler, Marcel Goldberg, Marie Zins, Hervé Le Marec, Mattias Jakobsson, Pierre Darlu, Emmanuelle Génin, Jean-François Deleuze, Richard Redon, Christian Dina
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Abstract The demographical history of France remains largely understudied despite its central role toward understanding modern population structure across Western Europe. Here, by exploring publicly available Europe-wide genotype datasets together wi
Externí odkaz:
https://doaj.org/article/2cfe22713c9047a98436743628f16f58
Autor:
Blandine Gendre, Angel Martinez‐Perez, Marcus E. Kleber, Astrid van Hylckama Vlieg, Anne Boland, Robert Olaso, Marine Germain, Gaëlle Munsch, Angela Patricia Moissl, Pierre Suchon, Juan Carlos Souto, José Manuel Soria, Jean‐François Deleuze, Winfried März, Frits R. Rosendaal, Maria Sabater‐Lleal, Pierre‐Emmanuel Morange, David‐Alexandre Trégouët
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Background Factor V (FV) is a key molecular player in the coagulation cascade. FV plasma levels have been associated with several human diseases, including thrombosis, bleeding, and diabetic complications. So far, 2 genes have been robustly found thr
Externí odkaz:
https://doaj.org/article/becf52ad5d8646cd8abf1c175a980a04
Autor:
Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcova, David Murphy, Anne-Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stephanie Efthymiou, Lucia V. Schottlaender, Heba Morsy, Annarita Scardamaglia, Ambreen Tariq, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S. Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten M. Brønstad, Sandrine Tury, Andrés Moreno De Luca, Anne Boland-Auge, Robert Olaso, Jean-François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Alajlan, Firdous Abdulwahab, Jean-Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Gungor, Semra Hiz Kurul, Hanns Lochmuller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas W. Wood, Rita Horvath, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, SYNaPS Study Group, Thomas Arnesen, Henry Houlden
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Abstract Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to varian
Externí odkaz:
https://doaj.org/article/1b66ac89bf354c83adcf4b0c6dc91661
Autor:
Kévin Muret, Vincent Le Goff, Claire Dandine-Roulland, Claire Hotz, Francette Jean-Louis, Bertrand Boisson, Lilia Mesrob, Florian Sandron, Delphine Daian, Robert Olaso, Edith Le Floch, Vincent Meyer, Pierre Wolkenstein, Jean-Laurent Casanova, Yves Lévy, Eric Bonnet, Jean-François Deleuze, Sophie Hüe
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10374 (2024)
Hidradenitis suppurativa (HS) is a chronic skin disease characterized by painful, recurrent abscesses, nodules, and scarring, primarily in skin folds. The exact causes of HS are multifactorial, involving genetic, hormonal, and environmental factors.
Externí odkaz:
https://doaj.org/article/f1aa4492718146ca81b822bc1aed3e8f
Autor:
Maëva Veyssiere, Maria del Pilar Rodriguez Ordonez, Smahane Chalabi, Laetitia Michou, François Cornelis, Anne Boland, Robert Olaso, Jean-François Deleuze, Elisabeth Petit-Teixeira, Valérie Chaudru
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Rheumatoid arthritis (RA) is a chronic, systemic autoimmune disease caused by a combination of genetic and environmental factors. Rare variants with low predicted effects in genes participating in the same biological function might be involved in dev
Externí odkaz:
https://doaj.org/article/7325e1972e61498f86b59a1064b0e849
Autor:
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean-François Deleuze, Robert Olaso, ADES consortium, Flora Alarcon, Dominique Campion, Grégory Nuel, Gaël Nicolas
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-4 (2022)
Externí odkaz:
https://doaj.org/article/4e5c4247d44444c698c81ce1e6caf234
Autor:
Zuzana Gerber, Christian Daviaud, Damien Delafoy, Florian Sandron, Enagnon Kazali Alidjinou, Jonathan Mercier, Sylvain Gerber, Vincent Meyer, Anne Boland, Laurence Bocket, Robert Olaso, Jean-François Deleuze
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-8 (2022)
Abstract The COVID-19 pandemic caused by the new Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) continues to threaten public health and burden healthcare systems worldwide. Whole SARS-CoV-2 genome sequencing has become essential for epi
Externí odkaz:
https://doaj.org/article/8b5aedb1bc8e41ecb7691b34be1e3fe5
Autor:
Catherine Schramm, Camille Charbonnier, Aline Zaréa, Morgane Lacour, David Wallon, CNRMAJ collaborators, Anne Boland, Jean-François Deleuze, Robert Olaso, ADES consortium, Flora Alarcon, Dominique Campion, Grégory Nuel, Gaël Nicolas
Publikováno v:
Genome Medicine, Vol 14, Iss 1, Pp 1-14 (2022)
Abstract Background Alzheimer disease (AD) is a common complex disorder with a high genetic component. Loss-of-function (LoF) SORL1 variants are one of the strongest AD genetic risk factors. Estimating their age-related penetrance is essential before
Externí odkaz:
https://doaj.org/article/40ed3c4b271e4576bb2578794dbaf6f2
Autor:
Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 11 (2023)
Purpose: Multi-omics offer worthwhile and increasingly accessible technologies to diagnostic laboratories seeking potential second-tier strategies to help patients with unresolved rare diseases, especially patients clinically diagnosed with a rare OM
Externí odkaz:
https://doaj.org/article/4593e6258ee746c78872071719392347
Autor:
Antoine Italiano, Derek Dinart, Isabelle Soubeyran, Carine Bellera, Hélène Espérou, Christelle Delmas, Noémie Mercier, Sabrina Albert, Ludivine Poignie, Anne Boland, Aurélien Bourdon, Damien Geneste, Quentin Cavaille, Yec’han Laizet, Emmanuel Khalifa, Céline Auzanneau, Barbara Squiban, Nathalène Truffaux, Robert Olaso, Zuzana Gerber, Cédrick Wallet, Antoine Bénard, Jean-Yves Blay, Pierre Laurent-Puig, Jean-François Deleuze, Carlo Lucchesi, Simone Mathoulin-Pelissier, the MULTISARC study group
Publikováno v:
BMC Cancer, Vol 21, Iss 1, Pp 1-10 (2021)
Abstract Background Soft-tissue sarcomas (STS) represent a heterogeneous group of rare tumors including more than 70 different histological subtypes. High throughput molecular analysis (next generation sequencing exome [NGS]) is a unique opportunity
Externí odkaz:
https://doaj.org/article/a537e8b223744e2f9d8f9b6743f5ae55