Found: 7

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  • Rôle du gène MBD4 dans un phénotype hypermutateur et dans la tumorigenèse.

    Published in:
    Médecine Sciences, 2018, v. 34, n. 11, p. 925, doi. 10.1051/medsci/2018226
    By:
    • Rodrigues, Manuel;
    • Mobuchon, Lenha;
    • Houy, Alexandre;
    • Derrien, Anne-Céline;
    • Fiévet, Alice;
    • Stern, Marc-Henri
    Publication type:
    Article

  • Genomic landscape of liquid biopsy mutations in TP53 and DNA damage genes in cancer patients.

    Published in:
    NPJ Precision Oncology, 2024, v. 8, n. 1, p. 1, doi. 10.1038/s41698-024-00544-7
    By:
    • Vasseur, Damien;
    • Arbab, Ahmadreza;
    • Giudici, Fabiola;
    • Marzac, Christophe;
    • Michiels, Stefan;
    • Tagliamento, Marco;
    • Bayle, Arnaud;
    • Smolenschi, Cristina;
    • Sakkal, Madona;
    • Aldea, Mihaela;
    • Sassi, Hela;
    • Dall'Olio, Filippo Gustavo;
    • Pata-Merci, Noémie;
    • Cotteret, Sophie;
    • Fiévet, Alice;
    • Auger, Nathalie;
    • Friboulet, Luc;
    • Facchinetti, Francesco;
    • Géraud, Arthur;
    • Ponce, Santiago
    Publication type:
    Article

  • Outlier response to anti-PD1 in uveal melanoma reveals germline MBD4 mutations in hypermutated tumors.

    Published in:
    Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-04322-5
    By:
    • Mobuchon, Lenha;
    • Houy, Alexandre;
    • Popova, Tatiana;
    • Dayot, Stéphane;
    • Rodrigues, Manuel;
    • Fiévet, Alice;
    • Stern, Marc-Henri;
    • Galut, Michèle;
    • Putterman, Marc;
    • Tick, Sarah;
    • Roman-Roman, Sergio;
    • Mariani, Pascale;
    • Piperno-Neumann, Sophie;
    • Bidard, François-Clément;
    • Gardrat, Sophie;
    • Barnhill, Raymond L.;
    • Cassoux, Nathalie;
    • Servois, Vincent;
    • Rampanou, Aurore;
    • Mouton, Aurore
    Publication type:
    Article

  • The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder.

    Published in:
    Human Mutation, 2022, v. 43, n. 2, p. 266, doi. 10.1002/humu.24308
    By:
    • Kumble, Smitha;
    • Levy, Amanda M.;
    • Punetha, Jaya;
    • Gao, Hua;
    • Ah Mew, Nicholas;
    • Anyane‐Yeboa, Kwame;
    • Benke, Paul J.;
    • Berger, Sara M.;
    • Bjerglund, Lise;
    • Campos‐Xavier, Belinda;
    • Ciliberto, Michael;
    • Cohen, Julie S.;
    • Comi, Anne M.;
    • Curry, Cynthia;
    • Damaj, Lena;
    • Denommé‐Pichon, Anne‐Sophie;
    • Emrick, Lisa;
    • Faivre, Laurence;
    • Fasano, Mary Beth;
    • Fiévet, Alice
    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