Characterization of genetic variants in the <i>EGLN1/PHD2</i> gene identified in a European collection of patients with erythrocytosis
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Autori:
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
Pubblicato in:
Haematologica, Numero 108, 2023, ISSN 1592-8721
Editore:
Ferrata Storti Foundation (Haematologica)
DOI:
10.3324/HAEMATOL.2023.282913
FACS-assisted CRISPR-Cas9 genome editing of human induced pluripotent stem cells
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Autori:
Amandine Caillaud, Antoine Lévêque, Aurélie Thédrez, Aurore Girardeau, Robin Canac, Lise Bray, Manon Baudic, Julien Barc, Nathalie Gaborit, Guillaume Lamirault, Betty Gardie, Salam Idriss, Antoine Rimbert, Cédric Le May, Bertrand Cariou, Karim Si-Tayeb
Pubblicato in:
STAR Protocols, Numero 3, 2024, ISSN 2666-1667
Editore:
Elsevier BV
DOI:
10.1016/J.XPRO.2022.101680
Unraveling the impact of VHL Exon 2 mutations causing Erythrocytosis or von Hippel-Lindau disease identified new RNA-Binding Proteins involved in VHL splicing.
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Autori:
V. Karaghiannis, L. Schmitt, F. Chesnel, E. Gautier, M. Leduc, M. Le Gall, S. Idriss, S. Couvé, A. Barlier, G. Sarrabay, N. Maaziz, B. Cassinat, L. Legros, V. Thibaud, S. Richard, F. Girodon, J. Miro, S. Tuffery-Giraud, Y. Arlot, B. Gardie.
Pubblicato in:
American Journal of Human Genetics, 2025, ISSN 1537-6605
Editore:
In press
DOI:
10.1182/blood-2018-03-838235
Identification of Hepatic-like EPO as a Cause of Polycythemia
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Autori:
Laurent Martin, Darko Maric, Salam Idriss, Marine Delamare, Amandine Le Roy, Nada Maaziz, Amandine Caillaud, Karim Si-Tayeb, Florence Robriquet, Marion Lenglet, Lucie Erceau, Christine Bellanné-Chantelot, Isabelle Plo, Bernard Aral, Céline Garrec, Fabrice Airaud, Clara Gianfermi, Vincent Antunes, Anna Keppner, Sarah Mathilda Vincent, Alexis Desfontaine, Nina Modé, Fabien Laporte, Anne Gaignerie, Caroline Chariau, Isabelle Leray, Coline Rogue, Laurent David, Richard Redon, Stéphane Bézieau, Lamisse Mansour-Hendili, Frédéric Galactéros, Thibault Maillet, Marlène Pasquet, Pierre Cougoul, Anne-Marie Nloga, Claude Gardin, Corinne Guitton, Viviane Dubruille, Vannina Giacobbi-Milet, Thierry Leblanc, Zuhre Kaya, Denis Semama, Chloé James, Serge Carillo, Marlène Ochmann, Anders Waage, Erwan Mortier, Mike Maillasson, Agnès Quéméner, Holger Cario, Radek C. Skoda, Yaël Zermati, David Hoogewijs, Alexandre Marchand, François Girodon, Betty Gardie
Pubblicato in:
New England Journal of Medicine, Numero 392, 2025, ISSN 0028-4793
Editore:
Massachusetts Medical Society
DOI:
10.1056/NEJMOA2414954
