Twenty-five years of epidemiological recording on myeloid malignancies: data from the specialized registry of hematologic malignancies of Côte d’Or (Burgundy, France)

ανά Maynadié, Marc, Girodon, François, Manivet-Janoray, Ines, Mounier, Morgane, Mugneret, Francine, Bailly, François, Favre, Bernardine, Caillot, Denis, Petrella, Tony, Flesch, Michel, Carli, Paule-Marie
Έκδοση 2011

Involvement of a human gene related to the Drosophila spen gene in the recurrent t(1;22) translocation of acute megakaryocytic leukemia

ανά Mercher, Thomas, Coniat, Maryvonne Busson-Le, Monni, Richard, Mauchauffé, Martine, Khac, Florence Nguyen, Gressin, Lætitia, Mugneret, Francine, Leblanc, Thierry, Dastugue, Nicole, Berger, Roland, Bernard, Olivier A.
Έκδοση 2001

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

ανά Mosca-Boidron, Anne-Laure, Faivre, Laurence, Aho, Serge, Marle, Nathalie, Truntzer, Caroline, Rousseau, Thierry, Ragon, Clémence, Payet, Muriel, Thauvin-Robinet, Christelle, Thevenon, Julien, Chehadeh, Salima El, Huet, Fréderic, Sagot, Paul, Mugneret, Francine, Callier, Patrick
Έκδοση 2013

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

ανά Thevenon, Julien, Callier, Patrick, Andrieux, Joris, Delobel, Bruno, David, Albert, Sukno, Sylvie, Minot, Delphine, Mosca Anne, Laure, Marle, Nathalie, Sanlaville, Damien, Bonnet, Marlène, Masurel-Paulet, Alice, Levy, Fabienne, Gaunt, Lorraine, Farrell, Sandra, Le Caignec, Cédric, Toutain, Annick, Carmignac, Virginie, Mugneret, Francine, Clayton-Smith, Jill, Thauvin-Robinet, Christel, Faivre, Laurence
Έκδοση 2013

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

ανά Nguyen-Khac, Florence, Lambert, Jerome, Chapiro, Elise, Grelier, Aurore, Mould, Sarah, Barin, Carole, Daudignon, Agnes, Gachard, Nathalie, Struski, Stéphanie, Henry, Catherine, Penther, Dominique, Mossafa, Hossein, Andrieux, Joris, Eclache, Virginie, Bilhou-Nabera, Chrystèle, Luquet, Isabelle, Terre, Christine, Baranger, Laurence, Mugneret, Francine, Chiesa, Jean, Mozziconacci, Marie-Joelle, Callet-Bauchu, Evelyne, Veronese, Lauren, Blons, Hélène, Owen, Roger, Lejeune, Julie, Chevret, Sylvie, Merle-Beral, Hélène, Leblondon, Véronique
Έκδοση 2013

Development of primary early-onset colorectal cancers due to biallelic mutations of the FANCD1/BRCA2 gene

ανά Degrolard-Courcet, Emilie, Sokolowska, Joanna, Padeano, Marie-Martine, Guiu, Séverine, Bronner, Myriam, Chery, Carole, Coron, Fanny, Lepage, Côme, Chapusot, Caroline, Loustalot, Catherine, Jouve, Jean-Louis, Hatem, Cyril, Ferrant, Emmanuelle, Martin, Laurent, Coutant, Charles, Baurand, Amandine, Couillault, Gérard, Delignette, Alexandra, El Chehadeh, Salima, Lizard, Sarab, Arnould, Laurent, Fumoleau, Pierre, Callier, Patrick, Mugneret, Francine, Philippe, Christophe, Frebourg, Thierry, Jonveaux, Philippe, Faivre, Laurence
Τόπος έκδοσης Eur J Hum Genet (2014)

Specific chromosomal IG translocations have different prognoses in chronic lymphocytic leukemia

ανά Nguyen-Khac, Florence, Chapiro, Elise, Lesty, Claude, Grelier, Aurore, Luquet, Isabelle, Radford-Weiss, Isabelle, Lefebvre, Christine, Fert-Ferrer, Sandra, Callet-Bauchu, Evelyne, Lippert, Eric, Raggueneau, Victoria, Michaux, Lucienne, Barin, Carole, Collonge-Rame, Marie-Agnes, Mugneret, Francine, Eclache, Virginie, Taviaux, Sylvie, Dastugue, Nicole, Richebourg, Steven, Struski, Stéphanie, Talmant, Pascaline, Baranger, Laurence, Gachard, Nathalie, Gervais, Carine, Quilichini, Benoit, Settegrana, Catherine, Maloum, Karim, Davi, Frederic, Merle-Béral, Hélène
Έκδοση 2011

The 2q37-deletion syndrome: an update of the clinical spectrum including overweight, brachydactyly and behavioural features in 14 new patients

ανά Leroy, Camille, Landais, Emilie, Briault, Sylvain, David, Albert, Tassy, Olivier, Gruchy, Nicolas, Delobel, Bruno, Grégoire, Marie-José, Leheup, Bruno, Taine, Laurence, Lacombe, Didier, Delrue, Marie-Ange, Toutain, Annick, Paubel, Agathe, Mugneret, Francine, Thauvin-Robinet, Christel, Arpin, Stéphanie, Le Caignec, Cedric, Jonveaux, Philippe, Beri, Mylène, Leporrier, Nathalie, Motte, Jacques, Fiquet, Caroline, Brichet, Olivier, Mozelle-Nivoix, Monique, Sabouraud, Pascal, Golovkine, Nathalie, Bednarek, Nathalie, Gaillard, Dominique, Doco-Fenzy, Martine
Έκδοση 2013

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

ανά Callier, Patrick, Calvel, Pierre, Matevossian, Armine, Makrythanasis, Periklis, Bernard, Pascal, Kurosaka, Hiroshi, Vannier, Anne, Thauvin-Robinet, Christel, Borel, Christelle, Mazaud-Guittot, Séverine, Rolland, Antoine, Desdoits-Lethimonier, Christèle, Guipponi, Michel, Zimmermann, Céline, Stévant, Isabelle, Kuhne, Françoise, Conne, Béatrice, Santoni, Federico, Lambert, Sandy, Huet, Frederic, Mugneret, Francine, Jaruzelska, Jadwiga, Faivre, Laurence, Wilhelm, Dagmar, Jégou, Bernard, Trainor, Paul A., Resh, Marilyn D., Antonarakis, Stylianos E., Nef, Serge
Έκδοση 2014

Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

ανά Duhoux, Francois P., Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Khac, Florence Nguyen, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène A.
Έκδοση 2011

Correction: Refinement of 1p36 Alterations Not Involving PRDM16 in Myeloid and Lymphoid Malignancies

ανά Duhoux, Francois P., Ameye, Geneviève, Lambot, Virginie, Herens, Christian, Lambert, Frédéric, Raynaud, Sophie, Wlodarska, Iwona, Michaux, Lucienne, Roche-Lestienne, Catherine, Labis, Elise, Taviaux, Sylvie, Chapiro, Elise, Nguyen-Khac, Florence, Struski, Stéphanie, Dobbelstein, Sophie, Dastugue, Nicole, Lippert, Eric, Speleman, Frank, Van Roy, Nadine, De Weer, An, Rack, Katrina, Talmant, Pascaline, Richebourg, Steven, Mugneret, Francine, Tigaud, Isabelle, Mozziconacci, Marie-Joëlle, Laibe, Sophy, Nadal, Nathalie, Terré, Christine, Libouton, Jeanne-Marie, Decottignies, Anabelle, Vikkula, Miikka, Poirel, Hélène A.
Έκδοση 2011

A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

ανά Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, Bourgeron, Thomas
Τόπος έκδοσης Eur J Hum Genet (2016)