Rapport 22-12. La biologie médicale en France : évolutions et enjeux von Bonnefont-Rousselot, D., Delpech (rapporteurs), M., Chatron, P., Gueant, J.-L., Le Bouc, Y., Maquart, F.-X., Massoubre, B., Rives, N., Vigneron, C.

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Novel extended-spectrum TEM-type beta-lactamase from an Escherichia coli isolate resistant to ceftazidime and susceptible to cephalothin von CHANAL-CLARIS, C, SIROT, D, BRET, L, CHATRON, P, LABIA, R, SIROT, J

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Frequency of inhibitor-resistant TEM β-lactamases in Escherichia coli isolates from urinary tract infections in Fran von Henquell, C., Sirot, D., Chanal, C., Champs, C. De, Chatron, P., Lafeuille, B., Texier, P., Sirof, J., Cluzel, R.

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Kérato-conjonctivites vernales de l'enfant. Etude clinique et complémentaire à propos de 22 cas von DALENS, H, FAUQUERT, J. L, CHATRON, P, BEAUJON, G

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Frequency of inhibitor-resistant TEM beta-lactamases in Escherichia coli isolates from urinary tract infections in France von Henquell, C, Sirot, D, Chanal, C, De Champs, C, Chatron, P, Lafeuille, B, Texier, P, Sirot, J, Cluzel, R

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Down syndrome maternal serum screening: results' comments recommended by accredited biologists von Muller, F., Dreux, S., Czerkiewicz, Isabelle, Bernard, M., Guibourdenche, J., Lacroix, I., Moineau, M.-P., Read, M.-H., Sault, C., Thibaud, D., Veyrat, B., Bidat, L.

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Vernal keratoconjunctivitis in the child. Clinical and complementary study apropos of 22 cases von Dalens, H, Fauquert, J L, Chatron, P, Beaujon, G

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Frequence of inhibitor-resistant TEM β-lactamases in Escherichia coli isolates from urinary tract infections in France von HENQUELL, C, SIROT, D, CHANAL, C, DE CHAMPS, C, CHATRON, P, LAFEUILLE, B, TEXIER, P, SIROT, J, CLUZEL, R

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Conjonctivites chroniques et récidivantes de l'enfant : Intérêt d'une exploration systématique von Fauquert, J.L., Dalens, H., Chatron, P., Beaujon, G., Labbe, A.

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What's next after the clot? Residual pulmonary vascular obstruction after pulmonary embolism: From imaging finding to clinical consequences von Bonnefoy, P.B., Margelidon-Cozzolino, V., Catella-Chatron, J., Ayoub, E., Guichard, J.B., Murgier, M., Bertoletti, L.

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Outcomes of lung transplantation for pleuroparenchymal fibroelastosis: A French multicentric retrospective study von Clermidy, H., Mercier, O., Brioude, G., Mordant, P., Fadel, G., Picard, C., Chatron, E., Le Pavec, J., Roux, A., Reynaud-Gaubert, M., Messika, J., Olland, A., Demant, X., Degot, T., Lavrut, PM, Jougon, J., Sage, E., Fadel, E., Thomas, P., Cottin, V., Tronc, F.

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Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders von Aref-Eshghi, Erfan, Kerkhof, Jennifer, Pedro, Victor P., Barat-Houari, Mouna, Ruiz-Pallares, Nathalie, Andrau, Jean-Christophe, Lacombe, Didier, Van-Gils, Julien, Fergelot, Patricia, Dubourg, Christèle, Cormier-Daire, Valerie, Rondeau, Sophie, Lecoquierre, François, Saugier-Veber, Pascale, Nicolas, Gaël, Lesca, Gaetan, Chatron, Nicolas, Sanlaville, Damien, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel, Laumonnier, Frederic, Raynaud, Martine, Alders, Mariëlle, Mannens, Marcel, Henneman, Peter, Hennekam, Raoul C., Velasco, Guillaume, Francastel, Claire, Ulveling, Damien, Ciolfi, Andrea, Pizzi, Simone, Tartaglia, Marco, Heide, Solveig, Héron, Delphine, Mignot, Cyril, Keren, Boris, Whalen, Sandra, Afenjar, Alexandra, Bienvenu, Thierry, Campeau, Philippe M., Rousseau, Justine, Levy, Michael A., Brick, Lauren, Kozenko, Mariya, Balci, Tugce B., Siu, Victoria Mok, Stuart, Alan, Kadour, Mike, Masters, Jennifer, Takano, Kyoko, Kleefstra, Tjitske, de Leeuw, Nicole, Field, Michael, Shaw, Marie, Gecz, Jozef, Ainsworth, Peter J., Lin, Hanxin, Rodenhiser, David I., Friez, Michael J., Tedder, Matt, Lee, Jennifer A., DuPont, Barbara R., Stevenson, Roger E., Skinner, Steven A., Schwartz, Charles E., Genevieve, David, Sadikovic, Bekim

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Effect of Pulse Polarity on Thresholds and on Non-monotonic Loudness Growth in Cochlear Implant Users von Macherey, Olivier, Carlyon, Robert P., Chatron, Jacques, Roman, Stéphane

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The CFHQSIR survey: a Y-band extension of the CFHTLS-Wide survey von Pipien, S., Basa, S., Cuby, J.-G., Cuillandre, J.-C., Willott, C., Moutard, T., Chatron, J., Arnouts, S., Hudelot, P.

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A novel homozygous truncating mutation of the SFRP4 gene in Pyle's disease von Chatron, N., Lesca, G., Labalme, A., Rollat‐Farnier, P.A., Monin, P., Pichot, E., Edery, P., Sanlaville, D., Rossi, M.

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Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome von Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Pugeat, Michel, Till, Marianne, Edery, Patrick, Sanlaville, Damien, Schluth-Bolard, Caroline, Nicolino, Marc, Lesca, Gaetan, Putoux, Audrey

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Performance of semiconductor sequencing platform for non‐invasive prenatal genetic screening for fetal aneuploidy: results from a multicenter prospective cohort study in a clinical... von El Khattabi, L. Allach, Brun, S., Gueguen, P., Chatron, N., Guichoux, E., Schutz, S., Nectoux, J., Sorlin, A., Quere, M., Boudjarane, J., Tsatsaris, V., Mandelbrot, L., Schluth‐Bolard, C., Dupont, J. M., Rooryck, C., Cormier, Alexandre, Ferec, Claude, Da Foncesca Pipoli, Juliana, Letourneur, Franck, Bonnet, Céline, Jonveaux, Philippe, Bardel, Claire, Lagarde, Arnaud, Badens, Catherine, Levy, Nicolas, Duboc, Véronique, Paquis‐Fluckinger, Véronique, Boureau‐Wirth, Amandine, Bannwarth, Sylvie, Arveiler, Benoît, Lacombe, Didier, Goossens, Michel, Vidaud, Michel, Massardier, Jérôme, Saliou, Anne‐Hélène, Sanlaville, Damien

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Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R von Larasati, Yonika A, Solis, Gonzalo P, Koval, Alexey, Griffiths, Silja T, Berentsen, Ragnhild, Aukrust, Ingvild, Lesca, Gaetan, Chatron, Nicolas, Ville, Dorothée, Korff, Christian M, Katanaev, Vladimir L

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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns von Stamberger, Hannah, Hammer, Trine B., Gardella, Elena, Vlaskamp, Danique R. M., Bertelsen, Birgitte, Mandelstam, Simone, de Lange, Iris, Zhang, Jing, Myers, Candace T., Fenger, Christina, Afawi, Zaid, Almanza Fuerte, Edith P., Andrade, Danielle M., Balcik, Yunus, Ben Zeev, Bruria, Bennett, Mark F., Berkovic, Samuel F., Isidor, Bertrand, Bouman, Arjan, Brilstra, Eva, Busk, Øyvind L., Cairns, Anita, Caumes, Roseline, Chatron, Nicolas, Dale, Russell C., de Geus, Christa, Edery, Patrick, Gill, Deepak, Granild-Jensen, Jacob Bie, Gunderson, Lauren, Gunning, Boudewijn, Heimer, Gali, Helle, Johan R., Hildebrand, Michael S., Hollingsworth, Georgie, Kharytonov, Volodymyr, Klee, Eric W., Koeleman, Bobby P. C., Koolen, David A., Korff, Christian, Küry, Sébastien, Lesca, Gaetan, Lev, Dorit, Leventer, Richard J., Mackay, Mark T., Macke, Erica L., McEntagart, Meriel, Mohammad, Shekeeb S., Monin, Pauline, Montomoli, Martino, Morava, Eva, Moutton, Sebastien, Muir, Alison M., Parrini, Elena, Procopis, Peter, Ranza, Emmanuelle, Reed, Laura, Reif, Philipp S., Rosenow, Felix, Rossi, Massimiliano, Sadleir, Lynette G., Sadoway, Tara, Schelhaas, Helenius J., Schneider, Amy L., Shah, Krati, Shalev, Ruth, Sisodiya, Sanjay M., Smol, Thomas, Stumpel, Connie T. R. M., Stuurman, Kyra, Symonds, Joseph D., Mau-Them, Frederic Tran, Verbeek, Nienke, Verhoeven, Judith S., Wallace, Geoffrey, Yosovich, Keren, Zarate, Yuri A., Zerem, Ayelet, Zuberi, Sameer M., Guerrini, Renzo, Mefford, Heather C., Patel, Chirag, Zhang, Yue-Hua, Møller, Rikke S., Scheffer, Ingrid E.

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Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals von Schmetz, Ariane, Lüdecke, Hermann-Josef, Surowy, Harald, Sivalingam, Sugirtahn, Bruel, Ange-Line, Caumes, Roseline, Charles, Perrine, Chatron, Nicolas, Chrzanowska, Krystyna, Codina-Solà, Marta, Colson, Cindy, Cuscó, Ivon, Denommé-Pichon, Anne-Sophie, Edery, Patrick, Faivre, Laurence, Green, Andrew, Heide, Solveig, Hsieh, Tzung-Chien, Hustinx, Alexander, Kleinendorst, Lotte, Knopp, Cordula, Kraft, Florian, Krawitz, Peter M., Lasa-Aranzasti, Amaia, Lesca, Gaetan, López-González, Vanesa, Maraval, Julien, Mignot, Cyril, Neuhann, Teresa, Netzer, Christian, Oehl-Jaschkowitz, Barbara, Petit, Florence, Philippe, Christophe, Posmyk, Renata, Putoux, Audrey, Reis, André, Sánchez-Soler, María José, Suh, Julia, Tkemaladze, Tinatin, Tran Mau Them, Frédéric, Travessa, André, Trujillano, Laura, Valenzuela, Irene, van Haelst, Mieke M., Vasileiou, Georgia, Vincent-Delorme, Catherine, Walther, Mona, Verde, Pablo, Bramswig, Nuria C., Wieczorek, Dagmar

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