The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy von Bergougnoux, A., Billet, A., Ka, C., Heller, M., Degrugillier, F., Vuillaume, M.-L., Thoreau, V., Sasorith, S., Bareil, C., Thèze, C., Ferec, C., Gac, G. Le, Bienvenu, T., Bieth, E., Gaston, V., Lalau, G., Pagin, A., Malinge, M.-C., Dufernez, F., Lemonnier, L., Koenig, M., Fergelot, P., Claustres, M., Taulan-Cadars, M., Kitzis, A., Reboul, M.-P., Becq, F., Fanen, P., Mekki, C., Audrezet, M.-P., Girodon, E., Raynal, C.

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Are all Xq26.2 duplications overlapping GPC3 on array‐CGH a cause of Simpson‐Golabi‐Behmel syndrome? When do we need transcript analysis? von Vuillaume, M.‐L., Moizard, M.‐P., Hammouche, E., Delrue, M.‐A., Perrin, L., Maftei, C., Dupont, C., Drunat, S., Cottereau, E., Baumann, C., Toutain, A.

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Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability von Vuillaume, M.-L., Cogné, B., Jeanne, M., Boland, A., Ung, D.-C., Quinquis, D., Besnard, T., Deleuze, J.-F., Redon, R., Bézieau, S., Laumonnier, F., Toutain, A.

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Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities von Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric

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Nijmegen breakage syndrome cells fail to induce the p53-mediated DNA damage response following exposure to ionizing radiation von Jongmans, Wim, Vuillaume, Michèle, Chrzanowska, Krystyna, Smeets, Dominique, Sperling, Karl, Hall, Janet

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Abnormal Expression of the ATM and TP53 Genes in Sporadic Breast Carcinomas von ANGELE, Sandra, TREILLEUX, Isabelle, TANIERE, Philippe, MARTEL-PLANCHE, Ghyslaine, VUILLAUME, Michèle, BAILLY, Christiane, BREMOND, Alain, MONTESANO, Ruggero, HALL, Janet

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ATM haplotypes and cellular response to DNA damage: Association with breast cancer risk and clinical radiosensitivity von ANGELE, Sandra, ROMESTAING, Pascale, HALL, Janet, MOULLAN, Norman, VUILLAUME, Michèle, CHAPOT, Brigitte, FRIESEN, Marlin, JONGMANS, Wim, COX, David G, PISANI, Paola, GERARD, Jean-Pierre

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Rearrangement of CCND1 (BCL1/PRAD1) 3' Untranslated Region in Mantle-Cell Lymphomas and t(11ql3)-Associated Leukemias von Rimokh, Ruth, Berger, Françoise, Bastard, Christian, Klein, Bernard, French, Martine, Archimbaud, Eric, Rouault, Jean Pierre, Lucia, Bέnέdicte Santa, Duret, Laurent, Vuillaume, Michele, Coiffier, Bertrand, Bryon, Paul-Andre, Magaud, Jean Pierre

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Epstein-Barr Virus (EBV) Induces Expression of B-Cell Activation Markers on in vitro Infection of EBV-Negative B-Lymphoma Cells von Calender, Alain, Billaud, Marc, Aubry, Jean-Pierre, Banchereau, Jacques, Vuillaume, Michele, Lenoir, Gilbert M.

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Analyse de données d’expression transcriptomiques rythmées par des gènes-horloge : approche méthodologique et optimisation von Vuillaume, M.-L., Kwiatkowski, F., Uhrhammer, N., Bidet, Y., Bignon, Y.-J.

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Characterization of the Electrochemical Oxidation of Peroxynitrite: Relevance to Oxidative Stress Bursts Measured at the Single Cell Level von Amatore, Christian, Arbault, Stéphane, Bruce, Delphine, de Oliveira, Pedro, Erard, Marie, Vuillaume, Monique

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Immunophenotypic and genotypic analysis of acquired immunodeficiency syndrome-related non-Hodgkin's lymphomas : correlation with histologic features in 36 cases von RAPHAEL, M. M, AUDOUIN, J, LAMINE, M, DELECLUSE, H.-J, VUILLAUME, M, LENOIR, G. M, GISSELBRECHT, C, LENNERT, K, DIEBOLD, J

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Methylphenidate for gait hypokinesia and freezing in patients with Parkinson's disease undergoing subthalamic stimulation: a multicentre, parallel, randomised, placebo-controlled t... von Moreau, Caroline, MD, Delval, Arnaud, MD, Defebvre, Luc, MD, Dujardin, Kathy, PhD, Duhamel, Alain, PhD, Petyt, Gregory, MD, Vuillaume, Isabelle, MD, Corvol, Jean-Christophe, MD, Brefel-Courbon, Christine, MD, Ory-Magne, Fabienne, MD, Guehl, Dominique, MD, Eusebio, Alexandre, MD, Fraix, Valérie, MD, Saulnier, Pierre-Jean, MD, Lagha-Boukbiza, Ouhaid, MD, Durif, Frank, MD, Faighel, Mirela, MD, Giordana, Caroline, MD, Drapier, Sophie, MD, Maltête, David, MD, Tranchant, Christine, MD, Houeto, Jean-Luc, MD, Debû, Bettina, MD, Sablonniere, Bernard, MD, Azulay, Jean-Philippe, MD, Tison, François, MD, Rascol, Olivier, MD, Vidailhet, Marie, MD, Destée, Alain, MD, Bloem, Bastiaan R, MD, Bordet, Régis, MD, Devos, David, Dr

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Oxidative stress in cancer prone xeroderma pigmentosum fibroblasts. Real-time and single cell monitoring of superoxide and nitric oxide production with microelectrodes von Arbault, Stéphane, Sojic, Neso, Bruce, Delphine, Amatore, Christian, Sarasin, Alain, Vuillaume, Monique

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The p53-mediated DNA damage response to ionizing radiation in fibroblasts from ataxia-without-telangiectasia patients von JONGMANS, W, VUILLAUME, M, KLEIJER, W. J, LAKIN, N. D, HALL, J

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Idiopathic and Radiation-Induced Ocular Telangiectasia: The Involvement of the ATM Gene von Mauget-Faysse, Martine, Vuillaume, Michele, Quaranta, Maddalena, Moullan, Norman, Angele, Sandra, Friesen, Marlin D, Hall, Janet

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Phenylarsine oxide inhibits ex vivo HIV-1 expression von Arbault, S, Edeas, M, Legrand-Poels, S, Sojic, N, Amatore, C, Piette, J, Best-Belpomme, M, Lindenbaum, A, Vuillaume, M

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Analysis of gene expression data regulated by clock-genes: methodological approach and optimization von Vuillaume, M-L, Kwiatkowski, F, Uhrhammer, N, Bidet, Y, Bignon, Y-J

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Monitoring an oxidative stress mechanism at a single human fibroblast von Arbault, Stephane, Pantano, Paul, Jankowski, Jeffrey A, Vuillaume, Monique, Amatore, Christian

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Analysis of individual biochemical events based on artificial synapses using ultramicroelectrodes: cellular oxidative burst von Amatore, C, Arbault, S, Bruce, D, de Oliveira, P, Erard, M, Vuillaume, M

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