Výsledky vyhledávání - Doco-Fenzy, Martine

Clinical Genetics of Prolidase Deficiency: An Updated Review Autor Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie

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Electron Tomography of Metaphase Nucleolar Organizer Regions: Evidence for a Twisted-Loop Organization Autor Heliot, Laurent, Kaplan, Hervé, Lucas, Laurent, Klein, Christophe, Beorchia, Adrien, Doco-Fenzy, Martine, Menager, Monique, Thiry, Marc, O’Donohue, Marie-Françoise, Ploton, Dominique

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Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH Autor Andrieux, Joris, Dubourg, Christèle, Rio, Marlène, Attie-Bitach, Tania, Delaby, Elsa, Mathieu, Michèle, Journel, Hubert, Copin, Henri, Blondeel, Eléonore, Doco-Fenzy, Martine, Landais, Emilie, Delobel, Bruno, Odent, Sylvie, Manouvrier-Hanu, Sylvie, Holder-Espinasse, Muriel

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Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis Autor Le Collen, Lauriane, Delemer, Brigitte, Spodenkiewicz, Marta, Cornillet Lefebvre, Pascale, Durand, Emmanuelle, Vaillant, Emmanuel, Badreddine, Alaa, Derhourhi, Mehdi, Mouhoub, Tarik Ait, Jouret, Guillaume, Juttet, Pauline, Souchon, Pierre François, Vaxillaire, Martine, Froguel, Philippe, Bonnefond, Amélie, Doco Fenzy, Martine

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Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth Autor Van Maldergem, Lionel, Hou, Qingming, Kalscheuer, Vera M., Rio, Marlène, Doco-Fenzy, Martine, Medeira, Ana, de Brouwer, Arjan P.M., Cabrol, Christelle, Haas, Stefan A., Cacciagli, Pierre, Moutton, Sébastien, Landais, Emilie, Motte, Jacques, Colleaux, Laurence, Bonnet, Céline, Villard, Laurent, Dupont, Juliette, Man, Heng-Ye

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Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes Autor Doco-Fenzy, Martine, Leroy, Camille, Schneider, Anouck, Petit, Florence, Delrue, Marie-Ange, Andrieux, Joris, Perrin-Sabourin, Laurence, Landais, Emilie, Aboura, Azzedine, Puechberty, Jacques, Girard, Manon, Tournaire, Magali, Sanchez, Elodie, Rooryck, Caroline, Ameil, Agnès, Goossens, Michel, Jonveaux, Philippe, Lefort, Geneviève, Taine, Laurence, Cailley, Dorothée, Gaillard, Dominique, Leheup, Bruno, Sarda, Pierre, Geneviève, David

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Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing Autor Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Mandel, Jean-Louis, Laugel, Vincent

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Genotype–phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21 Autor Lyle, Robert, Béna, Frédérique, Gagos, Sarantis, Gehrig, Corinne, Lopez, Gipsy, Schinzel, Albert, Lespinasse, James, Bottani, Armand, Dahoun, Sophie, Taine, Laurence, Doco-Fenzy, Martine, Cornillet-Lefèbvre, Pascale, Pelet, Anna, Lyonnet, Stanislas, Toutain, Annick, Colleaux, Laurence, Horst, Jürgen, Kennerknecht, Ingo, Wakamatsu, Nobuaki, Descartes, Maria, Franklin, Judy C, Florentin-Arar, Lina, Kitsiou, Sophia, Aït Yahya-Graison, Emilie, Costantine, Maher, Sinet, Pierre-Marie, Delabar, Jean M, Antonarakis, Stylianos E

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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

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A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH Autor Poirsier, Céline, Besseau-Ayasse, Justine, Schluth-Bolard, Caroline, Toutain, Jérôme, Missirian, Chantal, Le Caignec, Cédric, Bazin, Anne, de Blois, Marie Christine, Kuentz, Paul, Catty, Marie, Choiset, Agnès, Plessis, Ghislaine, Basinko, Audrey, Letard, Pascaline, Flori, Elisabeth, Jimenez, Mélanie, Valduga, Mylène, Landais, Emilie, Lallaoui, Hakima, Cartault, François, Lespinasse, James, Martin-Coignard, Dominique, Callier, Patrick, Pebrel-Richard, Céline, Portnoi, Marie-France, Busa, Tiffany, Receveur, Aline, Amblard, Florence, Yardin, Catherine, Harbuz, Radu, Prieur, Fabienne, Le Meur, Nathalie, Pipiras, Eva, Kleinfinger, Pascale, Vialard, François, Doco-Fenzy, Martine

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing Autor Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie

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Further delineation of the KAT6B molecular and phenotypic spectrum Autor Gannon, Tamsin, Perveen, Rahat, Schlecht, Hélene, Ramsden, Simon, Anderson, Beverley, Kerr, Bronwyn, Day, Ruth, Banka, Siddharth, Suri, Mohnish, Berland, Siren, Gabbett, Michael, Ma, Alan, Lyonnet, Stan, Cormier-Daire, Valerie, Yilmaz, Rüstem, Borck, Guntram, Wieczorek, Dagmar, Anderlid, Britt-Marie, Smithson, Sarah, Vogt, Julie, Moore-Barton, Heather, Simsek-Kiper, Pelin Ozlem, Maystadt, Isabelle, Destrée, Anne, Bucher, Jessica, Angle, Brad, Mohammed, Shehla, Wakeling, Emma, Price, Sue, Singer, Amihood, Sznajer, Yves, Toutain, Annick, Haye, Damien, Newbury-Ecob, Ruth, Fradin, Melanie, McGaughran, Julie, Tuysuz, Beyhan, Tein, Mark, Bouman, Katelijne, Dabir, Tabib, Van den Ende, Jenneke, Luk, Ho Ming, Pilz, Daniela T, Eason, Jacqueline, Davies, Sally, Reardon, Willie, Garavelli, Livia, Zuffardi, Orsetta, Devriendt, Koen, Armstrong, Ruth, Johnson, Diana, Doco-Fenzy, Martine, Bijlsma, Emilia, Unger, Sheila, Veenstra-Knol, Hermine E, Kohlhase, Jürgen, Lo, Ivan FM, Smith, Janine, Clayton-Smith, Jill

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Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome Autor Ansari, Morad, Rainger, Jacqueline, Hanson, Isabel M., Williamson, Kathleen A., Sharkey, Freddie, Harewood, Louise, Sandilands, Angela, Clayton-Smith, Jill, Dollfus, Helene, Bitoun, Pierre, Meire, Francoise, Fantes, Judy, Franco, Brunella, Lorenz, Birgit, Taylor, David S., Stewart, Fiona, Willoughby, Colin E., McEntagart, Meriel, Khaw, Peng Tee, Clericuzio, Carol, Van Maldergem, Lionel, Williams, Denise, Newbury-Ecob, Ruth, Traboulsi, Elias I., Silva, Eduardo D., Madlom, Mukhlis M., Goudie, David R., Fleck, Brian W., Wieczorek, Dagmar, Kohlhase, Juergen, McTrusty, Alice D., Gardiner, Carol, Yale, Christopher, Moore, Anthony T., Russell-Eggitt, Isabelle, Islam, Lily, Lees, Melissa, Beales, Philip L., Tuft, Stephen J., Solano, Juan B., Splitt, Miranda, Hertz, Jens Michael, Prescott, Trine E., Shears, Deborah J., Nischal, Ken K., Doco-Fenzy, Martine, Prieur, Fabienne, Temple, I. Karen, Lachlan, Katherine L., Damante, Giuseppe, Morrison, Danny A., van Heyningen, Veronica, FitzPatrick, David R.

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Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome Autor Masnada, Silvia, Pichiecchio, Anna, Formica, Manuela, Arrigoni, Filippo, Borrelli, Paola, Accorsi, Patrizia, Bonanni, Paolo, Borgatti, Renato, Bernardina, Bernardo Dalla, Danieli, Alberto, Darra, Francesca, Deconinck, Nicolas, De Giorgis, Valentina, Dulac, Olivier, Gataullina, Svetlana, Giordano, Lucio, Guerrini, Renzo, La Briola, Francesca, Mastrangelo, Massimo, Montomoli, Martino, Mortilla, Marzia, Osanni, Elisa, Parisi, Pasquale, Perucca, Emilio, Pinelli, Lorenzo, Romaniello, Romina, Severino, Mariasavina, Vigevano, Federico, Vignoli, Aglaia, Bahi-Buisson, Nadia, Cavallin, Mara, Accogli, Andrea, Burgeois, Marie, Capra, Valeria, Chaves-Vischer, Virgine, Chiapparini, Luisa, Colafati, GiovannaStefania, D'Arrigo, Stefano, Desguerre, Isabelle, Doco-Fenzy, Martine, d'Orsi, Giuseppe, Epitashvili, Nino, Fazzi, Elisa, Ferretti, Alessandro, Fiorini, Elena, Fradin, Melanie, Fusco, Carlo, Granata, Tiziana, Johannesen, Katrine Marie, Lebon, Sebastien, Loget, Philippe, Moller, Rikke Steensjerre, Montanaro, Domenico, Orcesi, Simona, Quelin, Chloe, Rebessi, Erika, Romeo, Antonino, Solazzi, Roberta, Spagnoli, Carlotta, Uebler, Christian, Zara, Federico, Arzimanoglou, Alexis, Veggiotti, Pierangelo

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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Autor Jacquemont, Sébastien, Reymond, Alexandre, Zufferey, Flore, Harewood, Louise, Walters, Robin G., Kutalik, Zoltán, Martinet, Danielle, Shen, Yiping, Valsesia, Armand, Beckmann, Noam D., Thorleifsson, Gudmar, Belfiore, Marco, Bouquillon, Sonia, Campion, Dominique, De Leeuw, Nicole, De Vries, Bert B. A., Esko, Tõnu, Fernandez, Bridget A., Fernández-Aranda, Fernando, Fernández-Real, José Manuel, Gratacòs, Mònica, Guilmatre, Audrey, Hoyer, Juliane, Jarvelin, Marjo-Riitta, Kooy, Frank R., Kurg, Ants, Le Caignec, Cédric, Männik, Katrin, Platt, Orah S., Sanlaville, Damien, Van Haelst, Mieke M., Villatoro Gomez, Sergi, Walha, Faida, Wu, Bai-Lin, Yu, Yongguo, Aboura, Azzedine, Addor, Marie-Claude, Alembik, Yves, Antonarakis, Stylianos E., Arveiler, Benoît, Barth, Magalie, Bednarek, Nathalie, Béna, Frédérique, Bergmann, Sven, Beri, Mylène, Bernardini, Laura, Blaumeiser, Bettina, Bonneau, Dominique, Bottani, Armand, Boute, Odile, Brunner, Han G., Cailley, Dorothée, Callier, Patrick, Chiesa, Jean, Chrast, Jacqueline, Coin, Lachlan, Coutton, Charles, Cuisset, Jean-Marie, Cuvellier, Jean-Christophe, David, Albert, De Freminville, Bénédicte, Delobel, Bruno, Delrue, Marie-Ange, Demeer, Bénédicte, Descamps, Dominique, Didelot, Gérard, Dieterich, Klaus, Disciglio, Vittoria, Doco-Fenzy, Martine, Drunat, Séverine, Duban-Bedu, Bénédicte, Dubourg, Christèle, El-Sayed Moustafa, Julia S., Elliott, Paul, Faas, Brigitte H. W., Faivre, Laurence, Faudet, Anne, Fellmann, Florence, Ferrarini, Alessandra, Fisher, Richard, Flori, Elisabeth, Forer, Lukas, Gaillard, Dominique, Gerard, Marion, Gieger, Christian, Gimelli, Stefania, Gimelli, Giorgio, Grabe, Hans J., Guichet, Agnès, Guillin, Olivier, Hartikainen, Anna-Liisa, Heron, Délphine, Hippolyte, Loyse, Holder, Muriel, Homuth, Georg, Isidor, Bertrand, Jaillard, Sylvie, Jaros, Zdenek, Jiménez-Murcia, Susana, Joly Helas, Géraldine, Jonveaux, Philippe, Kaksonen, Satu, Keren, Boris, Kloss-Brandstätter, Anita, Knoers, Nine V. A. M., Koolen, David A., Kroisel, Peter M., Kronenberg, Florian, Labalme, Audrey, Landais, Emilie, Lapi, Elisabetta, Layet, Valérie, Legallic, Solenn, Leheup, Bruno, Leube, Barbara, Lewis, Suzanne, Lucas, Josette, Macdermot, Kay D., Magnusson, Pall, Marshall, Christian R., Mathieu-Dramard, Michèle, Mccarthy, Mark I., Meitinger, Thomas, Antonietta Mencarelli, Maria, Merla, Giuseppe, Moerman, Alexandre, Mooser, Vincent, Morice-Picard, Fanny, Mucciolo, Mafalda, Nauck, Matthias, Coumba Ndiaye, Ndeye, Nordgren, Ann, Pasquier, Laurent, Petit, Florence, Pfundt, Rolph, Plessis, Ghislaine, Rajcan-Separovic, Evica, Paolo Ramelli, Gian, Rauch, Anita, Ravazzolo, Roberto, Reis, Andre, Renieri, Alessandra, Richart, Cristobal, Ried, Janina S., Rieubland, Claudine, Roberts, Wendy, Roetzer, Katharina M., Rooryck, Caroline, Rossi, Massimiliano, Saemundsen, Evald, Satre, Véronique, Schurmann, Claudia, Sigurdsson, Engilbert, Stavropoulos, Dimitri J., Stefansson, Hreinn, Tengström, Carola, Thorsteinsdóttir, Unnur, Tinahones, Francisco J., Touraine, Renaud, Vallée, Louis, Van Binsbergen, Ellen, Van Der Aa, Nathalie, Vincent-Delorme, Catherine, Visvikis-Siest, Sophie, Vollenweider, Peter, Völzke, Henry, Vulto-Van Silfhout, Anneke T., Waeber, Gérard, Wallgren-Pettersson, Carina, Witwicki, Robert M., Zwolinksi, Simon, Andrieux, Joris, Estivill, Xavier, Gusella, James F., Gustafsson, Omar, Metspalu, Andres, Scherer, Stephen W., Stefansson, Kari, Blakemore, Alexandra I. F., Beckmann, Jacques S., Froguel, Philippe

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