Zobrazeno 1 - 10
of 133
pro vyhledávání: '"Francine Mugneret"'
Autor:
Patrick Callier, Pierre Calvel, Armine Matevossian, Periklis Makrythanasis, Pascal Bernard, Hiroshi Kurosaka, Anne Vannier, Christel Thauvin-Robinet, Christelle Borel, Séverine Mazaud-Guittot, Antoine Rolland, Christèle Desdoits-Lethimonier, Michel Guipponi, Céline Zimmermann, Isabelle Stévant, Françoise Kuhne, Béatrice Conne, Federico Santoni, Sandy Lambert, Frederic Huet, Francine Mugneret, Jadwiga Jaruzelska, Laurence Faivre, Dagmar Wilhelm, Bernard Jégou, Paul A Trainor, Marilyn D Resh, Stylianos E Antonarakis, Serge Nef
Publikováno v:
PLoS Genetics, Vol 10, Iss 5, p e1004340 (2014)
The Hedgehog (Hh) family of secreted proteins act as morphogens to control embryonic patterning and development in a variety of organ systems. Post-translational covalent attachment of cholesterol and palmitate to Hh proteins are critical for multime
Externí odkaz:
https://doaj.org/article/639ab364e74943b08783e497d9a164d0
Autor:
Florence Nguyen-Khac, Jerome Lambert, Elise Chapiro, Aurore Grelier, Sarah Mould, Carole Barin, Agnes Daudignon, Nathalie Gachard, Stéphanie Struski, Catherine Henry, Dominique Penther, Hossein Mossafa, Joris Andrieux, Virginie Eclache, Chrystèle Bilhou-Nabera, Isabelle Luquet, Christine Terre, Laurence Baranger, Francine Mugneret, Jean Chiesa, Marie-Joelle Mozziconacci, Evelyne Callet-Bauchu, Lauren Veronese, Hélène Blons, Roger Owen, Julie Lejeune, Sylvie Chevret, Hélène Merle-Beral, Véronique Leblond
Publikováno v:
Haematologica, Vol 98, Iss 4 (2013)
Waldenström's macroglobulinemia is a disease of mature B cells, the genetic basis of which is poorly understood. Few recurrent chromosomal abnormalities have been reported, and their prognostic value is not known. We conducted a prospective cytogene
Externí odkaz:
https://doaj.org/article/2d7ef1fad7e94a9f9638e38c55032dff
Autor:
Anne-Laure Mosca-Boidron, Laurence Faivre, Serge Aho, Nathalie Marle, Caroline Truntzer, Thierry Rousseau, Clémence Ragon, Muriel Payet, Christelle Thauvin-Robinet, Julien Thevenon, Salima El Chehadeh, Fréderic Huet, Paul Sagot, Francine Mugneret, Patrick Callier
Publikováno v:
PLoS ONE, Vol 8, Iss 4, p e59956 (2013)
The aim of this study was to develop an improved technique for DNA extraction from 1 ml of uncultured AF from patients with a gestational age less than 16 weeks and to allow the use of array-CGH without DNA amplification. The DNA extraction protocol
Externí odkaz:
https://doaj.org/article/5875db00ecf142bea920400eb0b2d35e
Autor:
Marc Maynadié, François Girodon, Ines Manivet-Janoray, Morgane Mounier, Francine Mugneret, François Bailly, Bernardine Favre, Denis Caillot, Tony Petrella, Michel Flesch, Paule-Marie Carli
Publikováno v:
Haematologica, Vol 96, Iss 1 (2011)
Background Epidemiological data on myeloid malignancies are very rare in the literature due to a lack of registration by cancer registries until 2000. The Registry of Hematologic Malignancies of the Côte d’Or Department in France has, however, ste
Externí odkaz:
https://doaj.org/article/d884edb7308540b6acc6d44068b947b9
Autor:
Francois P. Duhoux, Geneviève Ameye, Virginie Lambot, Christian Herens, Frédéric Lambert, Sophie Raynaud, Iwona Wlodarska, Lucienne Michaux, Catherine Roche-Lestienne, Elise Labis, Sylvie Taviaux, Elise Chapiro, Florence Nguyen-Khac, Stéphanie Struski, Sophie Dobbelstein, Nicole Dastugue, Eric Lippert, Frank Speleman, Nadine Van Roy, An De Weer, Katrina Rack, Pascaline Talmant, Steven Richebourg, Francine Mugneret, Isabelle Tigaud, Marie-Joëlle Mozziconacci, Sophy Laibe, Nathalie Nadal, Christine Terré, Jeanne-Marie Libouton, Anabelle Decottignies, Miikka Vikkula, Hélène A. Poirel
Publikováno v:
PLoS ONE, Vol 6, Iss 12 (2011)
Externí odkaz:
https://doaj.org/article/b949280337144bf482ac838d8fd89850
Autor:
Francois P Duhoux, Geneviève Ameye, Virginie Lambot, Christian Herens, Frédéric Lambert, Sophie Raynaud, Iwona Wlodarska, Lucienne Michaux, Catherine Roche-Lestienne, Elise Labis, Sylvie Taviaux, Elise Chapiro, Florence Nguyen-Khac, Stéphanie Struski, Sophie Dobbelstein, Nicole Dastugue, Eric Lippert, Frank Speleman, Nadine Van Roy, An De Weer, Katrina Rack, Pascaline Talmant, Steven Richebourg, Francine Mugneret, Isabelle Tigaud, Marie-Joëlle Mozziconacci, Sophy Laibe, Nathalie Nadal, Christine Terré, Jeanne-Marie Libouton, Anabelle Decottignies, Miikka Vikkula, Hélène A Poirel, Groupe Francophone de Cytogénétique Hématologique (GFCH), Belgian Cytogenetic Group for Hematology and Oncology (BCG-HO)
Publikováno v:
PLoS ONE, Vol 6, Iss 10, p e26311 (2011)
Fluorescence in situ hybridization was performed to characterize 81 cases of myeloid and lymphoid malignancies with cytogenetic 1p36 alterations not affecting the PRDM16 locus. In total, three subgroups were identified: balanced translocations (N = 2
Externí odkaz:
https://doaj.org/article/83442896cbc6471683b7214a16f968ec
Autor:
Sophie Rondeau, Charles Coutton, Pierre-Simon Jouk, Lydie Burglen, Alice Goldenberg, Bérénice Doray, Nathalie Marle, Séverine Drunat, Pascal Chambon, P. Callier, Thierry Bienvenu, F. Devillard, M.-L. Moutard, Danielle Martinet, Bernard Aral, Pascale Saugier-Veber, Nathalie Perreton, Marie-Claude Addor, Marguerite Miguet, Martine Doco-Fenzy, N. Le Meur, Anne-Marie Guerrot, J.-L. Alessandri, C. Thauvin-Robinet, R. Touraine, Anne-Claude Tabet, Anne-Laure Mosca-Boidron, S. El Chehadeh, D. Devys, Sébastien Lebon, Alexandra Afenjar, Sandra Chantot-Bastaraud, Laurence Faivre, Emilie Landais, Cathy Philippe, Klaus Dieterich, Valérie Kremer, Julien Thevenon, Véronique Satre, V. des Portes, Francine Mugneret, Willie Reardon, Fabienne Prieur
Publikováno v:
Clinical Genetics. 91:576-588
Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an
Autor:
Isabelle Rafdord-Weiss, Dominique Penther, Carole Barin, Baptiste Gaillard, Benoit Quilichini, Catherine Roche-Lestienne, Pascaline Etancelin, Christine Lefebvre, Daniel Lusina, Gwenaël Nadeau, Francine Mugneret, Catherine Godon, Virginie Eclache, Florence Nguyen-Khac, Yann Ferret, M J Mozziconacci, Antoine Ittel, Nathalie Nadal, Audrey Bidet, Gwendoline Soler, Elise Chapiro, Groupe Francophone de Cytogénétique Hématologique, Agnès Daudignon, Steven Richebourg, Pierre-Julien Viailly
Publikováno v:
American Journal of Hematology
American Journal of Hematology, Wiley, 2019, 94 (11), ⟨10.1002/ajh.25601⟩
American Journal of Hematology, Wiley, 2019, 94 (11), ⟨10.1002/ajh.25601⟩
International audience
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9110fa81b56370ceebf89520322490be
https://hal.archives-ouvertes.fr/hal-02352127
https://hal.archives-ouvertes.fr/hal-02352127
Autor:
Mylène Valduga, Catherine Yardin, François Vialard, Marie-Agnès Collonge-Rame, Nathalie Leporrier, Marianne Till, Camille Lebel-Roy, Nicolas Gruchy, Nathalie Le Meur, Frédérique Carré-Pigeon, Sylvie Jaillard, Eleonore Blondeel, Radu Harbuz, Pascal Chambon, A. Vigouroux-Castera, Géraldine Joly-Helas, Elisabeth Flori, Martine Herbaux, James Lespinasse, Mélanie Jimenez Pocquet, Francine Mugneret, Florence Amblard, Philippe Vago, Aurélie Coussement
Publikováno v:
Prenatal Diagnosis. 36:523-529
OBJECTIVE: Sex chromosome aneuploidies are frequently detected fortuitously in a prenatal diagnosis. Most cases of 47,XXX and 47,XYY syndromes are diagnosed in this context, and parents are thus faced with an unexpected situation. The objective of th
Autor:
Xavier Pepermans, Carole Barin, Hélène Poirel, Nicole Dastugue, Ivan Théate, Martine Raphael, Violaine Havelange, Geneviève Ameye, Lucienne Michaux, Evelyne Callet-Bauchu, Miikka Vikkula, Francine Mugneret, Dominique Penther, Eric Lippert
Publikováno v:
British Journal of Haematology. 173:137-144
Dysregulation of MYC is the genetic hallmark of Burkitt lymphoma (BL) but it is encountered in other aggressive mature B-cell lymphomas. MYC dysregulation needs other cooperating events for BL development. We aimed to characterize these events and as