Found: 7

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  • High HFE mutation incidence in idiopathic erythrocytosis.

    Published in:
    British Journal of Haematology, 2019, v. 185, n. 4, p. 794, doi. 10.1111/bjh.15631
    By:
    • Burlet, Bénédicte;
    • Bourgeois, Valentin;
    • Buriller, Céline;
    • Aral, Bernard;
    • Airaud, Fabrice;
    • Garrec, Céline;
    • Bézieau, Stéphane;
    • Gardie, Betty;
    • Girodon, François
    Publication type:
    Article

  • Sensitive detection methods are key to identify secondary EGFR c.2369C>T p.(Thr790Met) in non-small cell lung cancer tissue samples.

    Published in:
    2020
    By:
    • Keppens, Cleo;
    • Dequeker, Elisabeth M. C.;
    • Rouleau, Etienne;
    • 't Hart, Nils;
    • Bubendorf, Lukas;
    • Dufraing, Kelly;
    • Garrec, Céline;
    • Guéguen, Paul;
    • Lamy, Aude;
    • Marchetti, Antonio;
    • Pauwels, Patrick;
    • Ryska, Ales;
    • Tack, Véronique;
    • Tornillo, Luigi;
    • Van Casteren, Kaat;
    • von der Thüsen, Jan H.;
    • Zwaenepoel, Karen;
    • Lissenberg-Witte, Birgit;
    • Thunnissen, Erik;
    • Schuuring, Ed
    Publication type:
    journal article

  • TUMOSPEC: A Nation-Wide Study of Hereditary Breast and Ovarian Cancer Families with a Predicted Pathogenic Variant Identified through Multigene Panel Testing.

    Published in:
    Cancers, 2021, v. 13, n. 15, p. 3659, doi. 10.3390/cancers13153659
    By:
    • Lesueur, Fabienne;
    • Eon-Marchais, Séverine;
    • Bonnet-Boissinot, Sarah;
    • Beauvallet, Juana;
    • Dondon, Marie-Gabrielle;
    • Golmard, Lisa;
    • Rouleau, Etienne;
    • Garrec, Céline;
    • Martinez, Mathilde;
    • Toulas, Christine;
    • Nguyen, Tan Dat;
    • Brayotel, Fanny;
    • Crivelli, Louise;
    • Maugard, Christine M.;
    • Bubien, Virginie;
    • Sevenet, Nicolas;
    • Gesta, Paul;
    • Chieze-Valero, Stéphanie;
    • Nambot, Sophie;
    • Goussot, Vincent
    Publication type:
    Article

  • Diagnosis of exon 12‐positive polycythemia vera rescued by NGS.

    Published in:
    Clinical Case Reports, 2020, v. 8, n. 5, p. 790, doi. 10.1002/ccr3.2720
    By:
    • Geay, Antoine;
    • Aral, Bernard;
    • Bourgeois, Valentin;
    • Martin, Pauline;
    • Airaud, Fabrice;
    • Garrec, Céline;
    • Bézieau, Stéphane;
    • Gardie, Betty;
    • Girodon, François
    Publication type:
    Article

  • A de novo pathogenic variant in the MSH6 gene in a 52 years-old woman.

    Published in:
    Familial Cancer, 2022, v. 21, n. 3, p. 319, doi. 10.1007/s10689-021-00274-w
    By:
    • Pierre-Noël, Elise;
    • Airaud, Fabrice;
    • Cauchin, Estelle;
    • Garrec, Céline;
    • Ricordeau, Ingrid;
    • Michon, Clémence;
    • Kerdraon, Olivier;
    • Bezieau, Stéphane;
    • Abadie, Caroline
    Publication type:
    Article

  • BRCA Share: A Collection of Clinical BRCA Gene Variants.

    Published in:
    Human Mutation, 2016, v. 37, n. 12, p. 1318, doi. 10.1002/humu.23113
    By:
    • Béroud, Christophe;
    • Letovsky, Stanley I.;
    • Braastad, Corey D.;
    • Caputo, Sandrine M.;
    • Beaudoux, Olivia;
    • Bignon, Yves Jean;
    • Paillerets, Brigitte;
    • Bronner, Myriam;
    • Buell, Crystal M.;
    • Collod‐Béroud, Gwenaëlle;
    • Coulet, Florence;
    • Derive, Nicolas;
    • Divincenzo, Christina;
    • Elzinga, Christopher D.;
    • Garrec, Céline;
    • Houdayer, Claude;
    • Karbassi, Izabela;
    • Lizard, Sarab;
    • Love, Angela;
    • Muller, Danièle
    Publication type:
    Article

  • Germline JAK2 E846D Substitution as the Cause of Erythrocytosis?

    Published in:
    Genes, 2023, v. 14, n. 5, p. 1066, doi. 10.3390/genes14051066
    By:
    • Maaziz, Nada;
    • Garrec, Céline;
    • Airaud, Fabrice;
    • Bobée, Victor;
    • Contentin, Nathalie;
    • Cayssials, Emilie;
    • Rimbert, Antoine;
    • Aral, Bernard;
    • Bézieau, Stéphane;
    • Gardie, Betty;
    • Girodon, François
    Publication type:
    Article