Found: 17

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  • Mutiple DICER1-related lesions associated with a germline deep intronic mutation.

    Published in:
    2018
    By:
    • Verrier, Florian;
    • Dubois d'Enghien, Catherine;
    • Gauthier‐Villars, Marion;
    • Bonadona, Valérie;
    • Faure‐Conter, Cécile;
    • Dijoud, Frédérique;
    • Stoppa‐Lyonnet, Dominique;
    • Houdayer, Claude;
    • Golmard, Lisa;
    • Dubois d'Enghien, Catherine;
    • Gauthier-Villars, Marion;
    • Faure-Conter, Cécile;
    • Stoppa-Lyonnet, Dominique
    Publication type:
    journal article

  • Spontaneous abrogation of the G₂DNA damage checkpoint has clinical benefits but promotes leukemogenesis in Fanconi anemia patients.

    Published in:
    2011
    By:
    • Ceccaldi, Raphael;
    • Briot, Delphine;
    • Larghero, Jérôme;
    • Vasquez, Nadia;
    • d'Enghien, Catherine Dubois;
    • Chamousset, Deiphine;
    • Noguera, Maria-Elena;
    • Waisfisz, Quinten;
    • Hermine, Olivier;
    • Pondarre, Corinne;
    • Leblanc, Thierry;
    • Gluckman, Eliane;
    • Joenje, Hans;
    • Stoppa-Lyonnet, Dominique;
    • Socié, Gerard;
    • Soulier, Jean;
    • Larghero, Jérôme;
    • Dubois d'Enghien, Catherine;
    • Chamousset, Delphine;
    • Socié, Gérard
    Publication type:
    journal article

  • Germline mutation in the RAD51B gene confers predisposition to breast cancer.

    Published in:
    2013
    By:
    • Golmard, Lisa;
    • Caux-Moncoutier, Virginie;
    • Davy, Grégoire;
    • Al Ageeli, Essam;
    • Poirot, Brigitte;
    • Tirapo, Carole;
    • Michaux, Dorothée;
    • Barbaroux, Catherine;
    • Dubois d'Enghien, Catherine;
    • Nicolas, André;
    • Castera, Laurent;
    • Sastre-Garau, Xavier;
    • Stern, Marc-Henri;
    • Houdayer, Claude;
    • Stoppa-Lyonnet, Dominique;
    • d'Enghien, Catherine Dubois;
    • Castéra, Laurent
    Publication type:
    journal article

  • Variable expression of CD3-ζ chain in tumor-infiltrating lymphocytes (TIL) derived from renal-cell carcinoma: Relationship with til phenotype and function.

    Published in:
    International Journal of Cancer, 1995, v. 63, n. 2, p. 205, doi. 10.1002/ijc.2910630210
    By:
    • Tartour, Eric;
    • Latour, Sylvain;
    • Mathiot, Claire;
    • Thiounn, Nicolas;
    • Mosseri, Véronique;
    • Joyeux, Isabelle;
    • D'Enghien, Catherine Dubois;
    • Lee, Renshiang;
    • Debre, Bernard;
    • Fridman, Wolf Herman
    Publication type:
    Article

  • Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations.

    Published in:
    European Journal of Human Genetics, 2012, v. 20, n. 3, p. 305, doi. 10.1038/ejhg.2011.196
    By:
    • Jacquemin, Virginie;
    • Rieunier, Guillaume;
    • Jacob, Sandrine;
    • Bellanger, Dorine;
    • d'Enghien, Catherine Dubois;
    • Laugé, Anthony;
    • Stoppa-Lyonnet, Dominique;
    • Stern, Marc-Henri
    Publication type:
    Article

  • Familial uveal melanoma and other tumors in 25 families with monoallelic germline MBD4 variants.

    Published in:
    JNCI: Journal of the National Cancer Institute, 2024, v. 116, n. 4, p. 580, doi. 10.1093/jnci/djad248
    By:
    • Villy, Marie-Charlotte;
    • Ven, Anaïs Le;
    • Mentec, Marine Le;
    • Masliah-Planchon, Julien;
    • Houy, Alexandre;
    • Bièche, Ivan;
    • Vacher, Sophie;
    • Vincent-Salomon, Anne;
    • d'Enghien, Catherine Dubois;
    • Schwartz, Mathias;
    • Piperno-Neumann, Sophie;
    • Matet, Alexandre;
    • Malaise, Denis;
    • Bubien, Virginie;
    • Lortholary, Alain;
    • Omar, Amal Ait;
    • Cavaillé, Mathias;
    • Stoppa-Lyonnet, Dominique;
    • Cassoux, Nathalie;
    • Stern, Marc-Henri
    Publication type:
    Article

  • Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

    Published in:
    2018
    By:
    • Renault, Anne-Laure;
    • Mebirouk, Noura;
    • Fuhrmann, Laetitia;
    • Bataillon, Guillaume;
    • Cavaciuti, Eve;
    • Le Gal, Dorothée;
    • Girard, Elodie;
    • Popova, Tatiana;
    • La Rosa, Philippe;
    • Beauvallet, Juana;
    • Eon-Marchais, Séverine;
    • Dondon, Marie-Gabrielle;
    • d'Enghien, Catherine Dubois;
    • Laugé, Anthony;
    • Chemlali, Walid;
    • Raynal, Virginie;
    • Labbé, Martine;
    • Bièche, Ivan;
    • Baulande, Sylvain;
    • Bay, Jacques-Olivier
    Publication type:
    journal article

  • Fanconi anemia and solid malignancies in childhood: A national retrospective study.

    Published in:
    Pediatric Blood & Cancer, 2015, v. 62, n. 3, p. 463, doi. 10.1002/pbc.25303
    By:
    • Malric, Aurore;
    • Defachelles, Anne‐Sophie;
    • Leblanc, Thierry;
    • Lescoeur, Brigitte;
    • Lacour, Brigitte;
    • Peuchmaur, Michel;
    • Maurage, Claude‐Alain;
    • Pierron, Gaëlle;
    • Guillemot, Delphine;
    • d'Enghien, Catherine Dubois;
    • Soulier, Jean;
    • Stoppa‐Lyonnet, Dominique;
    • Bourdeaut, Franck
    Publication type:
    Article

  • Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families.

    Published in:
    Carcinogenesis, 2017, v. 38, n. 10, p. 994, doi. 10.1093/carcin/bgx074
    By:
    • Renault, Anne-Laure;
    • Mebirouk, Noura;
    • Cavaciuti, Eve;
    • Le Gal, Dorothée;
    • Lecarpentier, Julie;
    • Dubois d'Enghien, Catherine;
    • Laugé, Anthony;
    • Dondon, Marie-Gabrielle;
    • Labbé, Martine;
    • Lesca, Gaetan;
    • Leroux, Dominique;
    • Gladieff, Laurence;
    • Adenis, Claude;
    • Faivre, Laurence;
    • Gilbert-Dussardier, Brigitte;
    • Lortholary, Alain;
    • Fricker, Jean-Pierre;
    • Dahan, Karin;
    • Bay, Jacques-Olivier;
    • Longy, Michel
    Publication type:
    Article

  • Biallelic inactivation of REV7 is associated with Fanconi anemia.

    Published in:
    2017
    By:
    • Bluteau, Dominique;
    • Masliah-Planchon, Julien;
    • Clairmont, Connor;
    • Rousseau, Alix;
    • Ceccaldi, Raphael;
    • d'Enghien, Catherine Dubois;
    • Bluteau, Olivier;
    • Cuccuini, Wendy;
    • Gachet, Stéphanie;
    • de Latour, Régis Peffault;
    • Leblanc, Thierry;
    • Socié, Gérard;
    • Baruchel, André;
    • Stoppa-Lyonnet, Dominique;
    • D'Andrea, Alan D;
    • Soulier, Jean
    Publication type:
    journal article

  • Biallelic inactivation of REV7 is associated with Fanconi anemia.

    Published in:
    2016
    By:
    • Bluteau, Dominique;
    • Masliah-Planchon, Julien;
    • Clairmont, Connor;
    • Rousseau, Alix;
    • Ceccaldi, Raphael;
    • Dubois d'Enghien, Catherine;
    • Bluteau, Olivier;
    • Cuccuini, Wendy;
    • Gachet, Stéphanie;
    • de Latour, Régis Peffault;
    • Leblanc, Thierry;
    • Socié, Gérard;
    • Baruchel, André;
    • Stoppa-Lyonnet, Dominique;
    • D'Andrea, Alan D.;
    • Soulier, Jean;
    • Peffault de Latour, Régis
    Publication type:
    journal article

  • Highly Sensitive Detection Method of DICER1 Tumor Hotspot Mutations by Drop-off Droplet Digital PCR.

    Published in:
    Clinical Chemistry, 2022, v. 68, n. 2, p. 322, doi. 10.1093/clinchem/hvab248
    By:
    • Vibert, Roseline;
    • Gauthier-Villars, Marion;
    • Carrière, Christelle;
    • d'Enghien, Catherine Dubois;
    • Cyrta, Joanna;
    • Vincent-Salomon, Anne;
    • Stoppa-Lyonnet, Dominique;
    • Bièche, Ivan;
    • Jeannot, Emmanuelle;
    • Golmard, Lisa
    Publication type:
    Article

  • Fertility defects revealing germline biallelic nonsense NBN mutations.

    Published in:
    Human Mutation, 2009, v. 30, n. 3, p. 424, doi. 10.1002/humu.20904
    By:
    • Warcoin, Mathilde;
    • Lespinasse, James;
    • Despouy, Gilles;
    • Dubois d'Enghien, Catherine;
    • Laugé, Anthony;
    • Portnoï, Marie-France;
    • Christin-Maitre, Sophie;
    • Stoppa-Lyonnet, Dominique;
    • Henri Stern, Marc
    Publication type:
    Article

  • Evaluation of in silico splice tools for decision-making in molecular diagnosis.

    Published in:
    Human Mutation, 2008, v. 29, n. 7, p. 975, doi. 10.1002/humu.20765
    By:
    • Houdayer, Claude;
    • Dehainault, Catherine;
    • Mattler, Christophe;
    • Michaux, Dorothée;
    • Caux-Moncoutier, Virginie;
    • Pagès-Berhouet, Sabine;
    • d'Enghien, Catherine Dubois;
    • Laugé, Anthony;
    • Castera, Laurent;
    • Gauthier-Villars, Marion;
    • Stoppa-Lyonnet, Dominique
    Publication type:
    Article

  • DNA repair functional analyses of NBN hypomorphic variants associated with NBN‐related infertility.

    Published in:
    Human Mutation, 2020, v. 41, n. 3, p. 608, doi. 10.1002/humu.23955
    By:
    • Fiévet, Alice;
    • Bellanger, Dorine;
    • Zahed, Laila;
    • Burglen, Lydie;
    • Derrien, Anne‐Céline;
    • Dubois d'Enghien, Catherine;
    • Lespinasse, James;
    • Parfait, Béatrice;
    • Pedespan, Jean‐Michel;
    • Rieunier, Guillaume;
    • Stoppa‐Lyonnet, Dominique;
    • Stern, Marc‐Henri
    Publication type:
    Article

  • Functional classification of ATM variants in ataxia‐telangiectasia patients.

    Published in:
    Human Mutation, 2019, v. 40, n. 10, p. 1713, doi. 10.1002/humu.23778
    By:
    • Fiévet, Alice;
    • Bellanger, Dorine;
    • Rieunier, Guillaume;
    • Dubois d'Enghien, Catherine;
    • Sophie, Julia;
    • Calvas, Patrick;
    • Carriere, Jean‐Paul;
    • Anheim, Mathieu;
    • Castrioto, Anna;
    • Flabeau, Olivier;
    • Degos, Bertrand;
    • Ewenczyk, Claire;
    • Mahlaoui, Nizar;
    • Touzot, Fabien;
    • Suarez, Felipe;
    • Hully, Marie;
    • Roubertie, Agathe;
    • Aladjidi, Nathalie;
    • Tison, François;
    • Antoine‐Poirel, Hélène
    Publication type:
    Article

  • Three new cases of ataxia‐telangiectasia‐like disorder: No impairment of the ATM pathway, but S‐phase checkpoint defect.

    Published in:
    Human Mutation, 2019, v. 40, n. 10, p. 1690, doi. 10.1002/humu.23773
    By:
    • Fiévet, Alice;
    • Bellanger, Dorine;
    • Valence, Stéphanie;
    • Mobuchon, Lenha;
    • Afenjar, Alexandra;
    • Giuliano, Fabienne;
    • Dubois d'Enghien, Catherine;
    • Parfait, Béatrice;
    • Pedespan, Jean‐Michel;
    • Auger, Nathalie;
    • Rieunier, Guillaume;
    • Collet, Agnès;
    • Burglen, Lydie;
    • Stoppa‐Lyonnet, Dominique;
    • Stern, Marc‐Henri
    Publication type:
    Article