Clinical Genetics of Prolidase Deficiency: An Updated Review

por Spodenkiewicz, Marta, Spodenkiewicz, Michel, Cleary, Maureen, Massier, Marie, Fitsialos, Giorgos, Cottin, Vincent, Jouret, Guillaume, Poirsier, Céline, Doco-Fenzy, Martine, Lèbre, Anne-Sophie
Publicado 2020

Cytogenetic Evolution of Human Ovarian Cell Lines Associated with Chemoresistance and Loss of Tumorigenicity

por Struski, Stéphanie, Doco‐Fenzy, Martine, Koehler, Michael, Chudoba, Ilse, Levy, Francis, Masson, Linda, Michel, Nicole, Ulrich, Evelyne, Gruson, Nadine, Bénard, Jean, Potron, Gérard, Cornillet‐Lefebvre, Pascale
Publicado 2003

Compound genetic etiology in a patient with a syndrome including diabetes, intellectual deficiency and distichiasis

por 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
Publicado 2022

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

por 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
Publicado 2016

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

por Colin, Estelle, Duffourd, Yannis, Chevarin, Martin, Tisserant, Emilie, Verdez, Simon, Paccaud, Julien, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Thevenon, Julien, Safraou, Hana, Besnard, Thomas, Goldenberg, Alice, Cogné, Benjamin, Isidor, Bertrand, Delanne, Julian, Sorlin, Arthur, Moutton, Sébastien, Fradin, Mélanie, Dubourg, Christèle, Gorce, Magali, Bonneau, Dominique, El Chehadeh, Salima, Debray, François-Guillaume, Doco-Fenzy, Martine, Uguen, Kevin, Chatron, Nicolas, Aral, Bernard, Marle, Nathalie, Kuentz, Paul, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, Damien, Callier, Patrick, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Vitobello, Antonio
Publicado 2023

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

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

por 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
Publicado 2014

Further delineation of the KAT6B molecular and phenotypic spectrum

por 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
Publicado 2015

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

por Christensen, Maria B., Levy, Amanda M., Mohammadi, Nazanin A., Niceta, Marcello, Kaiyrzhanov, Rauan, Dentici, Maria Lisa, Al Alam, Chadi, Alesi, Viola, Benoit, Valérie, Bhatia, Kailash P., Bierhals, Tatjana, Boßelmann, Christian M., Buratti, Julien, Callewaert, Bert, Ceulemans, Berten, Charles, Perrine, De Wachter, Matthias, Dehghani, Mohammadreza, D'haenens, Erika, Doco‐Fenzy, Martine, Geßner, Michaela, Gobert, Cyrielle, Guliyeva, Ulviyya, Haack, Tobias B., Hammer, Trine B., Heinrich, Tilman, Hempel, Maja, Herget, Theresia, Hoffmann, Ute, Horvath, Judit, Houlden, Henry, Keren, Boris, Kresge, Christina, Kumps, Candy, Lederer, Damien, Lermine, Alban, Magrinelli, Francesca, Maroofian, Reza, Vahidi Mehrjardi, Mohammad Yahya, Moudi, Mahdiyeh, Müller, Amelie J., Oostra, Anna J., Pletcher, Beth A., Ros‐Pardo, David, Samarasekera, Shanika, Tartaglia, Marco, Van Schil, Kristof, Vogt, Julie, Wassmer, Evangeline, Winkelmann, Juliane, Zaki, Maha S., Zech, Michael, Lerche, Holger, Radio, Francesca Clementina, Gomez‐Puertas, Paulino, Møller, Rikke S., Tümer, Zeynep
Publicado 2022

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

por 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.
Publicado 2016