Zobrazeno 1 - 10
of 30
pro vyhledávání: '"Céline Garrec"'
Autor:
Marine Delamare, Amandine Le Roy, Mathilde Pacault, Loïc Schmitt, Céline Garrec, Nada Maaziz, Matti Myllykoski, Antoine Rimbert, Valéna Karaghiannis, Bernard Aral, Mark Catherwood, Fabrice Airaud, Lamisse Mansour-Hendili, David Hoogewijs, Edoardo Peroni, Salam Idriss, Valentine Lesieur, Amandine Caillaud, Karim Si-Tayeb, Caroline Chariau, Anne Gaignerie, Minke Rab, Torsten Haferlach, Manja Meggendorfer, Stéphane Bézieau, Andrea Benetti, Nicole Casadevall, Pierre Hirsch, Christian Rose, Mathieu Wemeau, Frédéric Galacteros, Bruno Cassinat, Beatriz Bellosillo, Celeste Bento, Richard van Wijk, Petro E. Petrides, Maria Luigia Randi, Mary Frances McMullin, Peppi Koivunen, François Girodon, Betty Gardie, ECYT consortium
Publikováno v:
Haematologica, Vol 108, Iss 11 (2023)
Hereditary erythrocytosis is a rare hematologic disorder characterized by an excess of red blood cell production. Here we describe a European collaborative study involving a collection of 2,160 patients with erythrocytosis sequenced in ten different
Externí odkaz:
https://doaj.org/article/3f9446a9e07d45d496f7af7a30c39bce
Autor:
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie
Publikováno v:
Haematologica, Vol 108, Iss 6 (2023)
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma. In the present study, we describe a
Externí odkaz:
https://doaj.org/article/d370565ff3d9457892e7dd6d85e42fcb
Autor:
Nada Maaziz, Céline Garrec, Fabrice Airaud, Victor Bobée, Nathalie Contentin, Emilie Cayssials, Antoine Rimbert, Bernard Aral, Stéphane Bézieau, Betty Gardie, François Girodon
Publikováno v:
Genes, Vol 14, Iss 5, p 1066 (2023)
The discovery in 2005 of the JAK2 V617F gain-of-function mutation in myeloproliferative neoplasms and more particularly in polycythemia vera has deeply changed the diagnostic and therapeutic approaches to polycythemia. More recently, the use of NGS i
Externí odkaz:
https://doaj.org/article/8b0b9d390bca42359d461eb28501e199
Autor:
Cleo Keppens, Elisabeth M. C. Dequeker, Etienne Rouleau, Nils ’t Hart, Lukas Bubendorf, Kelly Dufraing, Céline Garrec, Paul Guéguen, Aude Lamy, Antonio Marchetti, Patrick Pauwels, Ales Ryska, Véronique Tack, Luigi Tornillo, Kaat Van Casteren, Jan H. von der Thüsen, Karen Zwaenepoel, Birgit Lissenberg-Witte, Erik Thunnissen, Ed Schuuring
Publikováno v:
BMC Cancer, Vol 20, Iss 1, Pp 1-11 (2020)
Abstract Background Correct identification of the EGFR c.2369C>T p.(Thr790Met) variant is key to decide on a targeted therapeutic strategy for patients with acquired EGFR TKI resistance in non-small cell lung cancer. The aim of this study was to eval
Externí odkaz:
https://doaj.org/article/a6a32d9ed52f4d1a8db1c8899b5c04ee
Autor:
Antoine Geay, Bernard Aral, Valentin Bourgeois, Pauline Martin, Fabrice Airaud, Céline Garrec, Stéphane Bézieau, Betty Gardie, François Girodon
Publikováno v:
Clinical Case Reports, Vol 8, Iss 5, Pp 790-792 (2020)
Abstract A JAK2V617F‐negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negat
Externí odkaz:
https://doaj.org/article/0257b774e5884d29a1542b05c93e699b
Autor:
Mathilde Filser, Bernard Aral, Fabrice Airaud, Aurélie Chauveau, Aisha Bruce, Yann Polfrit, Anne Thiebaut, Martin Gauthier, Cédric Le Maréchal, Eric Lippert, Stéphane Béziau, Céline Garrec, Betty Gardie, François Girodon
Publikováno v:
Haematologica, Vol 106, Iss 1 (2020)
Externí odkaz:
https://doaj.org/article/2c98293df7e4419dbb4582b460be3755
Autor:
Fabienne Lesueur, Séverine Eon-Marchais, Sarah Bonnet-Boissinot, Juana Beauvallet, Marie-Gabrielle Dondon, Lisa Golmard, Etienne Rouleau, Céline Garrec, Mathilde Martinez, Christine Toulas, Tan Dat Nguyen, Fanny Brayotel, Louise Crivelli, Christine M. Maugard, Virginie Bubien, Nicolas Sevenet, Paul Gesta, Stéphanie Chieze-Valero, Sophie Nambot, Vincent Goussot, Véronique Mari, Cornel Popovici, Fabienne Prieur, Marie-Emmanuelle Morin-Meschin, Julie Tinat, Alain Lortholary, Hélène Dreyfus, Marie Bidart, Marie-Agnès Collonge-Rame, Monique Mozelle-Nivoix, Laurence Gladieff, Sophie Giraud, Nadia Boutry-Kryza, Jean Chiesa, Philippe Denizeau, Yves-Jean Bignon, Nancy Uhrhammer, Odile Cohen-Haguenauer, Paul Vilquin, Audrey Mailliez, Isabelle Coupier, Jean-Marc Rey, Elodie Lacaze, Odile Béra, Chrystelle Colas, Florence Coulet, Capucine Delnatte, Claude Houdayer, Christine Lasset, Jérôme Lemonnier, Michel Longy, Catherine Noguès, Dominique Stoppa-Lyonnet, Dominique Vaur, Nadine Andrieu, Olivier Caron
Publikováno v:
Cancers, Vol 13, Iss 15, p 3659 (2021)
Assessment of age-dependent cancer risk for carriers of a predicted pathogenic variant (PPV) is often hampered by biases in data collection, with a frequent under-representation of cancer-free PPV carriers. TUMOSPEC was designed to estimate the cumul
Externí odkaz:
https://doaj.org/article/10a4b6de1a914e9aa4878f9007351359
Publikováno v:
Haematologica, Vol 102, Iss 1 (2017)
Externí odkaz:
https://doaj.org/article/1176f18178604ae0ad7e0318ecdd4d1e
Autor:
Ingrid Ricordeau, Elise Pierre-Noël, Estelle Cauchin, Stéphane Bézieau, Caroline Abadie, Clémence Michon, Fabrice Airaud, Olivier Kerdraon, Céline Garrec
Publikováno v:
Familial Cancer. 21:319-324
Lynch syndrome (LS) is a condition which predisposes individuals primarily to early-onset colorectal and endometrial cancer. LS is characterized by a germline pathogenic variant in one of the MMR (MisMatch Repair) gene, inducing a phenotype of micros
Autor:
Stéphane Bézieau, François Girodon, Fabrice Airaud, Bernard Aral, Valentin Bourgeois, Antoine Geay, Céline Garrec, Pauline Martin, Betty Gardie
Publikováno v:
Clinical Case Reports, Vol 8, Iss 5, Pp 790-792 (2020)
Clinical Case Reports
Clinical Case Reports
A JAK2V617F‐negative polycythemia associated with low serum epo needs to be tested for an exon 12 JAK2 mutation. When negative, due to potential serious complications in PV, a next generation sequencing is necessary to rule out false negative resul