Výsledky vyhledávání - Le Caignec, Cedric

Copy number variation goes clinical Autor Le Caignec, Cédric, Redon, Richard

Získat plný text Získat plný text Získat plný text

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis Autor Le Caignec, Cédric, Kwiatkowski, David J, Küry, Sébastien, Hardouin, Jean-Benoit, Melki, Judith, David, Albert

Získat plný text Získat plný text Získat plný text

Genomic aberrations of the CACNA2D1 gene in three patients with epilepsy and intellectual disability Autor Vergult, Sarah, Dheedene, Annelies, Meurs, Alfred, Faes, Fran, Isidor, Bertrand, Janssens, Sandra, Gautier, Agnès, Le Caignec, Cédric, Menten, Björn

Získat plný text Získat plný text Získat plný text

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders Autor Vincent, Marie, Karolak, Justyna A., Deutsch, Gail, Gambin, Tomasz, Popek, Edwina, Isidor, Bertrand, Szafranski, Przemyslaw, Le Caignec, Cedric, Stankiewicz, Paweł

Získat plný text Získat plný text Získat plný text

Mesomelic dysplasia Kantaputra type is associated with duplications of the HOXD locus on chromosome 2q Autor Kantaputra, Piranit N, Klopocki, Eva, Hennig, Bianca P, Praphanphoj, Verayuth, Le Caignec, Cédric, Isidor, Bertrand, Kwee, Mei L, Shears, Deborah J, Mundlos, Stefan

Získat plný text Získat plný text Získat plný text

Utero-vaginal aplasia (Mayer-Rokitansky-Küster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci Autor Morcel, Karine, Watrin, Tanguy, Pasquier, Laurent, Rochard, Lucie, Le Caignec, Cédric, Dubourg, Christèle, Loget, Philippe, Paniel, Bernard-Jean, Odent, Sylvie, David, Véronique, Pellerin, Isabelle, Bendavid, Claude, Guerrier, Daniel

Získat plný text Získat plný text Získat plný text

Comparison of Tumor- and Bone Marrow-Derived Mesenchymal Stromal/Stem Cells from Patients with High-Grade Osteosarcoma Autor Le Nail, Louis-Romée, Brennan, Meadhbh, Rosset, Philippe, Deschaseaux, Frédéric, Piloquet, Philippe, Pichon, Olivier, Le Caignec, Cédric, Crenn, Vincent, Layrolle, Pierre, Hérault, Olivier, De Pinieux, Gonzague, Trichet, Valérie

Získat plný text Získat plný text Získat plný text

Single-cell chromosomal imbalances detection by array CGH Autor Le Caignec, Cedric, Spits, Claudia, Sermon, Karen, De Rycke, Martine, Thienpont, Bernard, Debrock, Sophie, Staessen, Catherine, Moreau, Yves, Fryns, Jean-Pierre, Van Steirteghem, Andre, Liebaers, Inge, Vermeesch, Joris R.

Získat plný text Získat plný text Získat plný text

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families Autor Leppa, Virpi M., Kravitz, Stephanie N., Martin, Christa Lese, Andrieux, Joris, Le Caignec, Cedric, Martin-Coignard, Dominique, DyBuncio, Christina, Sanders, Stephan J., Lowe, Jennifer K., Cantor, Rita M., Geschwind, Daniel H.

Získat plný text Získat plný text Získat plný text

Five children with deletions of 1p34.3 encompassing AGO1 and AGO3 Autor Tokita, Mari J, Chow, Penny M, Mirzaa, Ghayda, Dikow, Nicola, Maas, Bianca, Isidor, Bertrand, Le Caignec, Cédric, Penney, Lynette S, Mazzotta, Giovanni, Bernardini, Laura, Filippi, Tiziana, Battaglia, Agatino, Donti, Emilio, Earl, Dawn, Prontera, Paolo

Získat plný text Získat plný text Získat plný text

Wilms' tumor in patients with 9q22.3 microdeletion syndrome suggests a role for PTCH1 in nephroblastomas Autor Isidor, Bertrand, Bourdeaut, Franck, Lafon, Delfine, Plessis, Ghislaine, Lacaze, Elodie, Kannengiesser, Caroline, Rossignol, Sylvie, Pichon, Olivier, Briand, Annaig, Martin-Coignard, Dominique, Piccione, Maria, David, Albert, Delattre, Olivier, Jeanpierre, Cécile, Sévenet, Nicolas, Le Caignec, Cédric

Získat plný text Získat plný text Získat plný text

Mesomelia-Synostoses Syndrome Results from Deletion of SULF1 and SLCO5A1 Genes at 8q13 Autor Isidor, Bertrand, Pichon, Olivier, Redon, Richard, Day-Salvatore, Debra, Hamel, Antoine, Siwicka, Karolina A., Bitner-Glindzicz, Maria, Heymann, Dominique, Kjellén, Lena, Kraus, Cornelia, Leroy, Jules G., Mortier, Geert R., Rauch, Anita, Verloes, Alain, David, Albert, Le Caignec, Cédric

Získat plný text Získat plný text Získat plný text

Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases Autor Blackburn, Patrick R., Zepeda-Mendoza, Cinthya J., Kruisselbrink, Teresa M., Schimmenti, Lisa A., García-Miñaur, Sixto, Palomares, María, Nevado, Julián, Mori, María A., Le Meur, Guylène, Klee, Eric W., Le Caignec, Cédric, Lapunzina, Pablo, Isidor, Bertrand, Babovic-Vuksanovic, Dusica

Získat plný text Získat plný text Získat plný text

Fryns type mesomelic dysplasia of the upper limbs caused by inverted duplications of the HOXD gene cluster Autor Le Caignec, Cédric, Pichon, Olivier, Briand, Annaig, de Courtivron, Benoît, Bonnard, Christian, Lindenbaum, Pierre, Redon, Richard, Schluth-Bolard, Caroline, Diguet, Flavie, Rollat-Farnier, Pierre-Antoine, Sanchez-Castro, Marta, Vuillaume, Marie-Laure, Sanlaville, Damien, Duboule, Denis, Mégarbané, André, Toutain, Annick

Získat plný text Získat plný text Získat plný text

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination Autor Pearlman, Alexander, Loke, Johnny, Le Caignec, Cedric, White, Stefan, Chin, Lisa, Friedman, Andrew, Warr, Nicholas, Willan, John, Brauer, David, Farmer, Charles, Brooks, Eric, Oddoux, Carole, Riley, Bridget, Shajahan, Shahin, Camerino, Giovanna, Homfray, Tessa, Crosby, Andrew H., Couper, Jenny, David, Albert, Greenfield, Andy, Sinclair, Andrew, Ostrer, Harry

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability? Autor Le Gall, Jessica, Nizon, Mathilde, Pichon, Olivier, Andrieux, Joris, Audebert-Bellanger, Séverine, Baron, Sabine, Beneteau, Claire, Bilan, Frédéric, Boute, Odile, Busa, Tiffany, Cormier-Daire, Valérie, Ferec, Claude, Fradin, Mélanie, Gilbert-Dussardier, Brigitte, Jaillard, Sylvie, Jønch, Aia, Martin-Coignard, Dominique, Mercier, Sandra, Moutton, Sébastien, Rooryck, Caroline, Schaefer, Elise, Vincent, Marie, Sanlaville, Damien, Le Caignec, Cédric, Jacquemont, Sébastien, David, Albert, Isidor, Bertrand

Získat plný text Získat plný text Získat plný text

Parallel derivation of isogenic human primed and naive induced pluripotent stem cells Autor Kilens, Stéphanie, Meistermann, Dimitri, Moreno, Diego, Chariau, Caroline, Gaignerie, Anne, Reignier, Arnaud, Lelièvre, Yohann, Casanova, Miguel, Vallot, Céline, Nedellec, Steven, Flippe, Léa, Firmin, Julie, Song, Juan, Charpentier, Eric, Lammers, Jenna, Donnart, Audrey, Marec, Nadège, Deb, Wallid, Bihouée, Audrey, Le Caignec, Cédric, Pecqueur, Claire, Redon, Richard, Barrière, Paul, Bourdon, Jérémie, Pasque, Vincent, Soumillon, Magali, Mikkelsen, Tarjei S., Rougeulle, Claire, Fréour, Thomas, David, Laurent

Získat plný text Získat plný text Získat plný text

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

Získat plný text Získat plný text Získat plný text

Estimating the effect size of the 15Q11.2 BP1–BP2 deletion and its contribution to neurodevelopmental symptoms: recommendations for practice Autor Jønch, Aia Elise, Douard, Elise, Moreau, Clara, Van Dijck, Anke, Passeggeri, Marzia, Kooy, Frank, Puechberty, Jacques, Campbell, Carolyn, Sanlaville, Damien, Lefroy, Henrietta, Richetin, Sonia, Pain, Aurelie, Geneviève, David, Kini, Usha, Le Caignec, Cédric, Lespinasse, James, Skytte, Anne-Bine, Isidor, Bertrand, Zweier, Christiane, Caberg, Jean-Hubert, Delrue, Marie-Ange, Møller, Rikke Steensbjerre, Bojesen, Anders, Hjalgrim, Helle, Brasch-Andersen, Charlotte, Lemyre, Emmanuelle, Ousager, Lilian Bomme, Jacquemont, Sébastien

Získat plný text Získat plný text Získat plný text