Zobrazeno 1 - 10
of 325
pro vyhledávání: '"A. Masurel-Paulet"'
Autor:
Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Publikováno v:
In Genetics in Medicine June 2018 20(6):645-654
Autor:
Bourchany, Aurélie, Thauvin-Robinet, Christel, Lehalle, Daphné, Bruel, Ange-Line, Masurel-Paulet, Alice, Jean, Nolwenn, Nambot, Sophie, Willems, Marjorie, Lambert, Laetitia, El Chehadeh-Djebbar, Salima, Schaefer, Elise, Jaquette, Aurélia, St-Onge, Judith, Poe, Charlotte, Jouan, Thibaud, Chevarin, Martin, Callier, Patrick, Mosca-Boidron, Anne-Laure, Laurent, Nicole, Lefebvre, Mathilde, Huet, Frédéric, Houcinat, Nada, Moutton, Sébastien, Philippe, Christophe, Tran-Mau-Them, Frédéric, Vitobello, Antonio, Kuentz, Paul, Duffourd, Yannis, Rivière, Jean-Baptiste, Thevenon, Julien, Faivre, Laurence
Publikováno v:
In European Journal of Medical Genetics November 2017 60(11):595-604
Autor:
Heide, Solveig *, Keren, Boris, Billette de Villemeur, Thierry, Chantot-Bastaraud, Sandra, Depienne, Christel, Nava, Caroline, Mignot, Cyril, Jacquette, Aurélia, Fonteneau, Eric, Lejeune, Elodie, Mach, Corinne, Marey, Isabelle, Whalen, Sandra, Lacombe, Didier, Naudion, Sophie, Rooryck, Caroline, Toutain, Annick, Caignec, Cédric Le, Haye, Damien, Olivier-Faivre, Laurence, Masurel-Paulet, Alice, Thauvin-Robinet, Christel, Lesne, Fabien, Faudet, Anne, Ville, Dorothée, des Portes, Vincent, Sanlaville, Damien, Siffroi, Jean-Pierre, Moutard, Marie-Laure, Héron, Delphine
Publikováno v:
In The Journal of Pediatrics June 2017 185:160-166
Autor:
Sebastien Moutton, Martin Chevarin, Nada Houcinat, Sophie Nambot, Yannis Duffourd, Laurence Faivre, Anne-Laure Mosca-Boidron, François Lecoquierre, Christel Thauvin-Robinet, Julian Delanne, Alice Masurel-Paulet, Arthur Sorlin, Charlotte Poe, Caroline Racine, Marjolaine Willems, Julien Thevenon, Steven A. Kushner, David Geneviève, Ange-Line Bruel, Patrick Callier, Frédéric Tran Mau-Them, Christophe Philippe, Emilie Tisserant, Thibaut Jouan, Christine Coubes, Antonio Vitobello, Nolwenn Jean-Marçais, Daphné Lehalle, Femke M.S. de Vrij
Publikováno v:
Human Genetics, 139(11), 1381-1390. Springer-Verlag
Developmental disorders (DD), characterized by malformations/dysmorphism and/or intellectual disability, affecting around 3% of worldwide population, are mostly linked to genetic anomalies. Despite clinical exome sequencing (cES) centered on genes in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::897814ccc3912c79c5829017b00dbbde
https://pure.eur.nl/en/publications/2b2dcf8f-df8e-4fad-acf9-15123d22adee
https://pure.eur.nl/en/publications/2b2dcf8f-df8e-4fad-acf9-15123d22adee
Autor:
Cassini, C., Thauvin-Robinet, C., Vinault, S., Binquet, C., Coron, F., Masurel-Paulet, A., Bonithon-Kopp, C., Mercier, S., Joly, L., Huet, F., Faivre, L.
Publikováno v:
In European Journal of Medical Genetics May-June 2011 54(3):277-280
Autor:
Masurel-Paulet, Alice, Haan, Eric, Thompson, Elizabeth M., Goizet, Cyril, Thauvin-Robinet, Christel, Tai, Andrew, Kennedy, Declan, Smith, Greg, Khong, Teck Yee, Solé, Guilhem, Guerineau, Elodie, Coupry, Isabelle, Huet, Frédéric, Robertson, Stephen, Faivre, Laurence
Publikováno v:
In European Journal of Medical Genetics 2011 54(1):25-28
Autor:
Marie-France Portnoï, Alexandre Reymond, Sandra Chantot-Bastaraud, Giuliana Giannuzzi, Eleonora Porcu, Yvan Herenger, Flavie Ader, Tony Yammine, Patrick Edery, Pierre-Antoine Rollat-Farnier, Flavie Diguet, Laurence Faivre, Alice Masurel-Paulet, Nathalie Marle, Kévin Uguen, Claire Bardel, Julia Lauer Zillhardt, Alistair T. Pagnamenta, Nicolas Chatron, Jenny C. Taylor, Stéphanie Valence, Andrew O.M. Wilkie, Solveig Heide, Emilie Chopin, Fabienne Prieur, Nora Chelloug, Christèle Dubourg, Marlène Rio, Eduardo Calpena, Zohra-Lydia Bellil, Arthur Sorlin, Laurence Lohmann, Sylvie Jaillard, Alexandra Afenjar, Corinne Metay, Jean-Pierre Siffroi, Damien Sanlaville, Marie-Pierre Cordier, Boris Keren, Françoise Girard, Caroline Schluth-Bolard, Joris Andrieux, Samantha J. L. Knight, Reza Maroofian, James Lespinasse, Michèle Mathieu-Dramard, Patrick Callier
The rise of pangenomic molecular assays allowed uncovering complex rearrangements named chromoanagenesis that were hypothesized to result from catastrophic shattering events. Constitutional cases have typically been reported individually preventing i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fbb06baaefddfcce5f3b63fb41a59581
https://doi.org/10.1101/2020.07.17.206771
https://doi.org/10.1101/2020.07.17.206771
Autor:
Chatron, N., Giannuzzi, G., Rollat-Farnier, P., Diguet, F., Porcu, E., Yammine, T., Uguen, K., Bellil, Z., Zillhardt, J. Lauer, Sorlin, A., Ader, F., Afenjar, A., Andrieux, J., Bardel, Claire, Calpena, E., Chantot-Bastaraud, S., Callier, P., Chelloug, N., Chopin, E., Cordier, M., Dubourg, C., Faivre, L., Girard, F., Heide, S., Herenger, Y., Jaillard, S., Keren, B., Knight, S. J. L., Lespinasse, J., Lohmann, L., Marle, N., Maroofian, R., Masurel-Paulet, Alice, Mathieu-Dramard, M., Metay, C., Pagnamenta, A. T., Portnoi, M., Prieur, F., Rio, M., Siffroi, J., Valence, S., Taylor, J. C., Wilkie, A. O. M., Edery, P., Reymond, A., Sanlaville, D., Schluth-Bolard, C.
Publikováno v:
53rd European Society of Human Genetics (ESHG) Conference
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.5-6, ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.5-6. ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.5-6. ⟨10.1038/s41431-020-00740-6⟩
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.5-6, ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics
European Journal of Human Genetics, 2020, 28 (SUPPL 1), pp.5-6. ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.5-6. ⟨10.1038/s41431-020-00740-6⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::bcb683f536ea74f0626378016e2c9357
https://hal.science/hal-03131441
https://hal.science/hal-03131441
Autor:
Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric, Fiala, Elise, Grange, Dorothy, Meschino, Wendy, Hiatt, Susan, Cooper, Gregory, Olivié, Hilde, Smith, Wendy, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan, Miramar, Dolores, van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna, Pajusalu, Sander, Õunap, Katrin, Filiano, James, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William, Hevner, Robert, Thauvin-Robinet, Christel
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
Eur J Hum Genet
European Journal of Human Genetics, 2020, 28 (6), pp.770-782. ⟨10.1038/s41431-020-0571-6⟩
Eur J Hum Genet
International audience; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26ddfd326ca63d159f3b4ae862dd4248
https://doi.org/10.1038/s41431-020-0571-6
https://doi.org/10.1038/s41431-020-0571-6
Autor:
Vitobello, A., Mau-Them, F. Tran, Bruel, A. L., Duffourd, Y., Tisserant, E., Callier, P., Moutton, S., Nambot, S., Lehalle, D., Jean-Marcais, N., Delanne, J., Racine, C., Thevenon, J., Poe, C., Jouan, T., Chevarin, M., Willems, M., Coubes, C., Genevieve, D., Houcinat, N., Masurel-Paulet, Alice, Mosca-Boidron, A.-L., Sorlin, A., Isidor, B., Heide, S., Afenjar, A., Rodriguez, D., Mignot, C., Heron, D., Vincent, M., Charles, P., Odent, S., Dubourg, C., Faudet, A., Keren, B., Cogne, B., Boland, A., Olaso, R., Philippe, C., Deleuze, J. F., Faivre, L., Thauvin-Robinet, C.
Publikováno v:
European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.65-66. ⟨10.1038/s41431-020-00740-6⟩
53rd European Society of Human Genetics (ESHG) Conference
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66, ⟨10.1038/s41431-020-00740-6⟩
European Journal of Human Genetics, Nature Publishing Group, 2020, 28 (SUPPL 1), pp.65-66. ⟨10.1038/s41431-020-00740-6⟩
53rd European Society of Human Genetics (ESHG) Conference
53rd European Society of Human Genetics (ESHG) Conference, Jun 2020, Vienna, Austria. pp.65-66, ⟨10.1038/s41431-020-00740-6⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::68abf0863685006972a082a073bd3660
https://hal.archives-ouvertes.fr/hal-03131511
https://hal.archives-ouvertes.fr/hal-03131511