A Rare Chromosome Rearrangement Leading to de la Chapelle Syndrome with a Mosaic 45,X Cell Line: (46,X,psu dic(X;Y)(p22.13;q11.221)/45,X/45,psu dic(X;Y)(p22.13;q11.221)

por Clement, Arthur, Dominot, Théo, Chammas, Jeremy, Montagnon, Martine, Delcroix, Marie, Pfeffer, Jérôme, Dupont, Jean Michel, Lebbar, Aziza, Clement, Patrice, Vialard, François
Publicado 2022

3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

por Dupont, Celine, Bucourt, Martine, Guimiot, Fabien, Kraoua, Lilia, Smiljkovski, Daniel, Le Tessier, Dominique, Lebugle, Camille, Gerard, Benedicte, Spaggiari, Emmanuel, Bourdoncle, Pierre, Tabet, Anne-Claude, Benzacken, Brigitte, Dupont, Jean-Michel
Publicado 2014

Non-random, individual-specific methylation profiles are present at the sixth CTCF binding site in the human H19/IGF2 imprinting control region

por Tost, Jörg, Jammes, Hélène, Dupont, Jean-Michel, Buffat, Christophe, Robert, Brigitte, Mignot, Thérèse-Marie, Mondon, Françoise, Carbonne, Bruno, Siméoni, Umberto, Grangé, Gilles, Kerjean, Antoine, Ferré, Françoise, Gut, Ivo Glynne, Vaiman, Daniel
Publicado 2006

Could Digital PCR Be an Alternative as a Non-Invasive Prenatal Test for Trisomy 21: A Proof of Concept Study

por El Khattabi, Laïla Allach, Rouillac-Le Sciellour, Christelle, Le Tessier, Dominique, Luscan, Armelle, Coustier, Audrey, Porcher, Raphael, Bhouri, Rakia, Nectoux, Juliette, Sérazin, Valérie, Quibel, Thibaut, Mandelbrot, Laurent, Tsatsaris, Vassilis, Vialard, François, Dupont, Jean-Michel
Publicado 2016

Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

por Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurélie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Delepine, Marc, Till, Marianne, Meyer, Vincent, Lyonnet, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien
Publicado 2020

1p36 deletion syndrome: Review and mapping with further characterization of the phenotype, a new cohort of 86 patients

por Jacquin, Clémence, Landais, Emilie, Poirsier, Céline, Afenjar, Alexandra, Akhavi, Ahmad, Bednarek, Nathalie, Bénech, Caroline, Bonnard, Adeline, Bosquet, Damien, Burglen, Lydie, Callier, Patrick, Chantot‐Bastaraud, Sandra, Coubes, Christine, Coutton, Charles, Delobel, Bruno, Descharmes, Margaux, Dupont, Jean‐Michel, Gatinois, Vincent, Gruchy, Nicolas, Guterman, Sarah, Heddar, Abdelkader, Herissant, Lucas, Heron, Delphine, Isidor, Bertrand, Jaeger, Pauline, Jouret, Guillaume, Keren, Boris, Kuentz, Paul, Le Caignec, Cedric, Levy, Jonathan, Lopez, Nathalie, Manssens, Zoe, Martin‐Coignard, Dominique, Marey, Isabelle, Mignot, Cyril, Missirian, Chantal, Pebrel‐Richard, Céline, Pinson, Lucile, Puechberty, Jacques, Redon, Sylvia, Sanlaville, Damien, Spodenkiewicz, Marta, Tabet, Anne‐Claude, Verloes, Alain, Vieville, Gaelle, Yardin, Catherine, Vialard, François, Doco‐Fenzy, Martine
Publicado 2022