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1. DISP1 deficiency: Monoallelic and biallelic variants cause a spectrum of midline craniofacial malformations

Author

Lavillaureix, Alinoë, Rollier, Paul, Kim, Artem, Panasenkava, Veranika, De Tayrac, Marie, Carré, Wilfrid, Guyodo, Hélène, Faoucher, Marie, Poirel, Elisabeth, Akloul, Linda, Quélin, Chloé, Whalen, Sandra, Bos, Jessica, Broekema, Marjoleine, van Hagen, Johanna M., Grand, Katheryn, Allen-Sharpley, Michelle, Magness, Emily, McLean, Scott D., Kayserili, Hülya, Altunoglu, Umut, En Qi Chong, Angie, Xue, Shifeng, Jeanne, Médéric, Almontashiri, Naif, Habhab, Wisam, Vanlerberghe, Clemence, Faivre, Laurence, Viora-Dupont, Eléonore, Philippe, Christophe, Safraou, Hana, Laffargue, Fanny, Mittendorf, Luisa, Abou Jamra, Rami, Patil, Siddaramappa Jagdish, Dalal, Ashwin, Sarma, Asodu Sandeep, Keren, Boris, Reversade, Bruno, Dubourg, Christèle, Odent, Sylvie, and Dupé, Valérie

Published
2024
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4. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder

Author

Schmid, Cosima M., Gregor, Anne, Costain, Gregory, Morel, Chantal F., Massingham, Lauren, Schwab, Jennifer, Quélin, Chloé, Faoucher, Marie, Kaplan, Julie, Procopio, Rebecca, Saunders, Carol J., Cohen, Ana S.A., Lemire, Gabrielle, Sacharow, Stephanie, O’Donnell-Luria, Anne, Segal, Ranit Jaron, Kianmahd Shamshoni, Jessica, Schweitzer, Daniela, Ebrahimi-Fakhari, Darius, Monaghan, Kristin, Palculict, Timothy Blake, Napier, Melanie P., Tao, Alice, Isidor, Bertrand, Moradkhani, Kamran, Reis, André, Sticht, Heinrich, Chung, Wendy K., and Zweier, Christiane

Published
2023
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5. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Author

Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe

Published
2023
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6. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author

Forde, Claire, Burkitt-Wright, Emma, Turnpenny, Peter D., Haan, Eric, Ealing, John, Mansour, Sahar, Holder, Muriel, Lahiri, Nayana, Dixit, Abhijit, Procter, Annie, Pacot, Laurence, Vidaud, Dominique, Capri, Yline, Gerard, Marion, Dollfus, Hélène, Schaefer, Elise, Quelin, Chloé, Sigaudy, Sabine, Busa, Tiffany, Vera, Gabriella, Damaj, Lena, Messiaen, Ludwine, Stevenson, David A., Davies, Peter, Palmer-Smith, Sheila, Callaway, Alison, Wolkenstein, Pierre, Pasmant, Eric, and Upadhyaya, Meena

Published
2022
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7. CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature

Author

Rouxel, Flavien, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Levy, Michael, Dias, Patricia, Barat-Houari, Mouna, Bednarek, Nathalie, Boute, Odile, Chatron, Nicolas, Cherik, Florian, Delahaye-Duriez, Andrée, Doco-Fenzy, Martine, Faivre, Laurence, Gauthier, Lucas W., Heron, Delphine, Hildebrand, Michael S., Lesca, Gaëtan, Lespinasse, James, Mazel, Benoit, Menke, Leonie A., Morgan, Angela T., Pinson, Lucile, Quelin, Chloe, Rossi, Massimiliano, Ruiz-Pallares, Nathalie, Tran-Mau-Them, Frederic, Van Kessel, Imke N., Vincent, Marie, Weber, Mathys, Willems, Marjolaine, Leguyader, Gwenael, Sadikovic, Bekim, and Genevieve, David

Published
2022
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9. Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author

Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, and Vabres, Pierre

Published
2021
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10. Clinical delineation of SETBP1 haploinsufficiency disorder

Author

Jansen, Nadieh A., Braden, Ruth O., Srivastava, Siddharth, Otness, Erin F., Lesca, Gaetan, Rossi, Massimiliano, Nizon, Mathilde, Bernier, Raphael A., Quelin, Chloé, van Haeringen, Arie, Kleefstra, Tjitske, Wong, Maggie M. K., Whalen, Sandra, Fisher, Simon E., Morgan, Angela T., and van Bon, Bregje W.

Published
2021
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11. Multiple congenital anomalies in two fetuses with glutathione‐synthetase deficit (GSS).

Author

Jury, Jeanne, Benoist, Jean‐François, Joubert, Madeleine, Quelin, Chloé, Besnard, Thomas, Conrad, Solène, Le Vaillant, Claudine, Bézieau, Stéphane, Isidor, Bertrand, Attié‐Bitach, Tania, Cogné, Benjamin, and Vincent, Marie

Subjects
CONGENITAL heart disease, GROWTH disorders, CLEFT palate, AMNIOTIC liquid, GENE expression
Abstract

Glutathione synthetase deficiency is a rare inborn metabolic disease usually caused by biallelic variants in GSS. Clinical severity varies from isolated hemolytic anemia, sometimes associated with chronic metabolic acidosis and 5‐oxoprolinuria, to severe neurological phenotypes with neonatal lethality. Here we report on two fetal siblings from two pregnancies with glutathione synthetase deficiency exhibiting similar multiple congenital anomalies associating phocomelia, cleft palate, intra‐uterine growth retardation, genito‐urinary malformations, and congenital heart defect. Genome sequencing showed that both fetuses were compound heterozygous for two GSS variants: the previously reported pathogenic missense substitution NM_000178.4 c.800G>A p.(Arg267Gln), and a 2.4 kb intragenic deletion NC_000020.11:g.34944530_34946833del. RNA‐seq on brain tissue revealed the out‐of‐frame deletion of the exon 3 and an almost monoallelic expression of the missense variant (88%), suggesting degradation of the deletion‐harboring allele by nonsense‐mediated mRNA decay. 5‐oxoproline (pyroglutamic acid) levels in amniotic fluid were elevated, suggesting an alteration of the gamma‐glutamyl cycle, and corroborating the pathogenicity of the two GSS variants. Only one case of glutathione synthetase deficiency with limb malformations has previously been reported, in a newborn homozygous for the c.800G>A variant. Thus, our data allow us to discuss a potential phenotypic extension of glutathione synthetase deficiency, with a possible involvement of the c.800G>A variant. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Genetica, Genetica Sectie Research, Cancer, Child Health, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Published
2024

13. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, Hakonarson, Hakon, Li, Dong, Wang, Qin, Bayat, Allan, Battig, Mark R., Zhou, Yijing, Bosch, Daniëlle G.M., van Haaften, Gijs, Granger, Leslie, Petersen, Andrea K., Pérez-Jurado, Luis A., Aznar-Laín, Gemma, Aneja, Anushree, Hancarova, Miroslava, Bendova, Sarka, Schwarz, Martin, Pourova, Radka Kremlikova, Sedlacek, Zdenek, Keena, Beth A., March, Michael E., Hou, Cuiping, O’Connor, Nora, Bhoj, Elizabeth J., Harr, Margaret H., Lemire, Gabrielle, Boycott, Kym M., Towne, Meghan, Li, Megan, Tarnopolsky, Mark, Brady, Lauren, Parker, Michael J., Faghfoury, Hanna, Parsley, Lea Kristin, Agolini, Emanuele, Dentici, Maria Lisa, Novelli, Antonio, Wright, Meredith, Palmquist, Rachel, Lai, Khanh, Scala, Marcello, Striano, Pasquale, Iacomino, Michele, Zara, Federico, Cooper, Annina, Maarup, Timothy J., Byler, Melissa, Lebel, Robert Roger, Balci, Tugce B., Louie, Raymond, Lyons, Michael, Douglas, Jessica, Nowak, Catherine, Afenjar, Alexandra, Hoyer, Juliane, Keren, Boris, Maas, Saskia M., Motazacker, Mahdi M., Martinez-Agosto, Julian A., Rabani, Ahna M., McCormick, Elizabeth M., Falk, Marni J., Ruggiero, Sarah M., Helbig, Ingo, Møller, Rikke S., Tessarollo, Lino, Ardori, Francesco Tomassoni, Palko, Mary Ellen, Hsieh, Tzung Chien, Krawitz, Peter M., Ganapathi, Mythily, Gelb, Bruce D., Jobanputra, Vaidehi, Wilson, Ashley, Greally, John, Jacquemont, Sébastien, Jizi, Khadijé, Bruel, Ange Line, Quelin, Chloé, Misra, Vinod K., Chick, Erika, Romano, Corrado, Greco, Donatella, Arena, Alessia, Morleo, Manuela, Nigro, Vincenzo, Seyama, Rie, Uchiyama, Yuri, Matsumoto, Naomichi, Taira, Ryoji, Tashiro, Katsuya, Sakai, Yasunari, Yigit, Gökhan, Wollnik, Bernd, Wagner, Michael, Kutsche, Barbara, Hurst, Anna C.E., Thompson, Michelle L., Schmidt, Ryan, Randolph, Linda, Spillmann, Rebecca C., Shashi, Vandana, Higginbotham, Edward J., Cordeiro, Dawn, Carnevale, Amanda, Costain, Gregory, Khan, Tayyaba, Funalot, Benoît, Mau-Them, Frederic Tran, Garcia Moya, Luis Fernandez, García-Miñaúr, Sixto, Osmond, Matthew, Chad, Lauren, Quercia, Nada, Carrasco, Diana, Li, Chumei, Sanchez-Valle, Amarilis, Kelley, Meghan, Nizon, Mathilde, Jensson, Brynjar O., Sulem, Patrick, Stefansson, Kari, Gorokhova, Svetlana, Busa, Tiffany, Rio, Marlène, Habdallah, Hamza Hadj, Lesieur-Sebellin, Marion, Amiel, Jeanne, Pingault, Véronique, Mercier, Sandra, Vincent, Marie, Philippe, Christophe, Fatus-Fauconnier, Clemence, Friend, Kathryn, Halligan, Rebecca K., Biswas, Sunita, Rosser, Jane, Shoubridge, Cheryl, Corbett, Mark, Barnett, Christopher, Gecz, Jozef, Leppig, Kathleen, Slavotinek, Anne, Marcelis, Carlo, Pfundt, Rolph, de Vries, Bert B.A., van Slegtenhorst, Marjon A., Brooks, Alice S., Cogne, Benjamin, Rambaud, Thomas, Tümer, Zeynep, Zackai, Elaine H., Akizu, Naiara, Song, Yuanquan, and Hakonarson, Hakon

Abstract

Pre-mRNA splicing is a highly coordinated process. While its dysregulation has been linked to neurological deficits, our understanding of the underlying molecular and cellular mechanisms remains limited. We implicated pathogenic variants in U2AF2 and PRPF19, encoding spliceosome subunits in neurodevelopmental disorders (NDDs), by identifying 46 unrelated individuals with 23 de novo U2AF2 missense variants (including 7 recurrent variants in 30 individuals) and 6 individuals with de novo PRPF19 variants. Eight U2AF2 variants dysregulated splicing of a model substrate. Neuritogenesis was reduced in human neurons differentiated from human pluripotent stem cells carrying two U2AF2 hyper-recurrent variants. Neural loss of function (LoF) of the Drosophila orthologs U2af50 and Prp19 led to lethality, abnormal mushroom body (MB) patterning, and social deficits, which were differentially rescued by wild-type and mutant U2AF2 or PRPF19. Transcriptome profiling revealed splicing substrates or effectors (including Rbfox1, a third splicing factor), which rescued MB defects in U2af50deficient flies. Upon reanalysis of negative clinical exomes followed by data sharing, we further identified 6 patients with NDD who carried RBFOX1 missense variants which, by in vitro testing, showed LoF. Our study implicates 3 splicing factors as NDD-causative genes and establishes a genetic network with hierarchy underlying human brain development and function.

Published
2024

15. Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome

Author

Billon, Clarisse, Adham, Salma, Hernandez Poblete, Natalia, Legrand, Anne, Frank, Michael, Chiche, Laurent, Zuily, Stephane, Benistan, Karelle, Savale, Laurent, Zaafrane-Khachnaoui, Khaoula, Brehin, Anne-Claire, Bal, Laurence, Busa, Tiffany, Fradin, Mélanie, Quelin, Chloé, Chesneau, Bertrand, Wahl, Denis, Fergelot, Patricia, Goizet, Cyril, Mirault, Tristan, Jeunemaitre, Xavier, and Albuisson, Juliette

Published
2021
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16. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features

Author

Li, Dong, primary, Wang, Qin, additional, Bayat, Allan, additional, Battig, Mark R., additional, Zhou, Yijing, additional, Bosch, Daniëlle G.M., additional, van Haaften, Gijs, additional, Granger, Leslie, additional, Petersen, Andrea K., additional, Pérez-Jurado, Luis A., additional, Aznar-Laín, Gemma, additional, Aneja, Anushree, additional, Hancarova, Miroslava, additional, Bendova, Sarka, additional, Schwarz, Martin, additional, Kremlíková Pourová, Radka, additional, Sedlacek, Zdenek, additional, Keena, Beth A., additional, March, Michael E., additional, Hou, Cuiping, additional, O'Connor, Nora, additional, Bhoj, Elizabeth J., additional, Harr, Margaret H., additional, Lemire, Gabrielle, additional, Boycott, Kym M., additional, Towne, Meghan C., additional, Li, Megan, additional, Tarnopolsky, Mark, additional, Brady, Lauren, additional, Parker, Michael J., additional, Faghfoury, Hanna, additional, Parsley, Lea Kristin, additional, Agolini, Emanuele, additional, Dentici, Maria Lisa, additional, Novelli, Antonio, additional, Wright, Meredith S., additional, Palmquist, Rachel, additional, Lai, Khanh, additional, Scala, Marcello, additional, Striano, Pasquale, additional, Iacomino, Michele, additional, Zara, Federico, additional, Cooper, Annina, additional, Maarup, Timothy J., additional, Byler, Melissa, additional, Lebel, Robert Roger, additional, Balci, Tugce B., additional, Louie, Raymond J., additional, Lyons, Michael J., additional, Douglas, Jessica, additional, Nowak, Catherine B., additional, Afenjar, Alexandra, additional, Hoyer, Juliane, additional, Keren, Boris, additional, Maas, Saskia M., additional, Motazacker, Mahdi M., additional, Martinez-Agosto, Julian A., additional, Rabani, Ahna M., additional, McCormick, Elizabeth M., additional, Falk, Marni, additional, Ruggiero, Sarah M., additional, Helbig, Ingo, additional, Møller, Rikke S., additional, Tessarollo, Lino, additional, Tomassoni-Ardori, Francesco, additional, Palko, Mary Ellen, additional, Hsieh, Tzung-Chien, additional, Krawitz, Peter M., additional, Ganapathi, Mythily, additional, Gelb, Bruce D., additional, Jobanputra, Vaidehi, additional, Wilson, Ashley, additional, Greally, John, additional, Jacquemont, Sébastien, additional, Jizi, Khadijé, additional, Ange-Line, Bruel, additional, Quelin, Chloé, additional, Misra, Vinod K., additional, Chick, Erika, additional, Romano, Corrado, additional, Greco, Donatella, additional, Arena, Alessia, additional, Morleo, Manuela, additional, Nigro, Vincenzo, additional, Seyama, Rie, additional, Uchiyama, Yuri, additional, Matsumoto, Naomichi, additional, Taira, Ryoji, additional, Tashiro, Katsuya, additional, Sakai, Yasunari, additional, Yigit, Gökhan, additional, Wollnik, Bernd, additional, Wagner, Michael, additional, Kutsche, Barbara, additional, Hurst, Anna C.E., additional, Thompson, Michelle L., additional, Schmidt, Ryan J., additional, Randolph, Linda M., additional, Spillmann, Rebecca C., additional, Shashi, Vandana, additional, Higginbotham, Edward J., additional, Cordeiro, Dawn, additional, Carnevale, Amanda, additional, Costain, Gregory, additional, Khan, Tayyaba, additional, Funalot, Benoît, additional, Tran Mau-Them, Frederic, additional, Fernandez Garcia Moya, Luis, additional, García-Miñaúr, Sixto, additional, Osmond, Matthew, additional, Chad, Lauren, additional, Quercia, Nada, additional, Carrasco, Diana, additional, Li, Chumei, additional, Sanchez-Valle, Amarilis, additional, Kelley, Meghan, additional, Nizon, Mathilde, additional, Jensson, Brynjar O., additional, Sulem, Patrick, additional, Stefansson, Kari, additional, Gorokhova, Svetlana, additional, Busa, Tiffany, additional, Rio, Marlène, additional, Hadj Abdallah, Hamza, additional, Lesieur-Sebellin, Marion, additional, Amiel, Jeanne, additional, Pingault, Véronique, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Philippe, Christophe, additional, Fatus-Fauconnier, Clemence, additional, Friend, Kathryn, additional, Halligan, Rebecca K., additional, Biswas, Sunita, additional, Rosser, Jane M.R., additional, Shoubridge, Cheryl, additional, Corbett, Mark A., additional, Barnett, Christopher, additional, Gecz, Jozef, additional, Leppig, Kathleen A., additional, Slavotinek, Anne, additional, Marcelis, Carlo, additional, Pfundt, Rolph, additional, de Vries, Bert B.A., additional, van Slegtenhorst, Marjon A., additional, Brooks, Alice S., additional, Cogne, Benjamin, additional, Rambaud, Thomas, additional, Tümer, Zeynep, additional, Zackai, Elaine H., additional, Akizu, Naiara, additional, Song, Yuanquan, additional, and Hakonarson, Hakon, additional

Published
2023
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17. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Author

Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., and Depienne, Christel

Published
2019
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18. O07: Haploinsufficiency of EIF3A and EIF3B cause a clinically variable phenotype characterized by neurodevelopmental abnormalities and congenital heart defects

Author

Somerville, Cherith, Erkut, Ersa, Schwartz, Marci, Chen, Xin, Manshaei, Roozbeh, Ding, Qiliang, Diderich, Karin, Herzig, Lisa, Dingmann, Bri, Quelin, Chloe, Pingault, Véronique, Dubourg, Christèle, Salgado, Joana Rosmaninho, Sousa, Sérgio, Koboldt, Daniel, Gosselin, Rachel, McBride, Kim, Arvio, Maria, Järvelä, Irma, Schrauwen, Isabelle, Conlin, Laura, Skraban, Cara, Reichert, Sara, Leonard, Jacqueline, Bedoukian, Emma, Kim, Raymond, Scott, Ian, and Jobling, Rebekah

Published
2024
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19. Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

Author

Michot, Caroline, Le Goff, Carine, Blair, Edward, Blanchet, Patricia, Capri, Yline, Gilbert-Dussardier, Brigitte, Goldenberg, Alice, Henderson, Alex, Isidor, Bertrand, Kayserili, Hulya, Kinning, Esther, Le Merrer, Martine, Lyonnet, Stanislas, Odent, Sylvie, Simsek-Kiper, Pelin Ozlem, Quelin, Chloé, Savarirayan, Ravi, Simon, Marleen, Splitt, Miranda, Verhagen, Judith M.A., Verloes, Alain, Munnich, Arnold, Baujat, Geneviève, and Cormier-Daire, Valérie

Published
2018
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20. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

Author

Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, AUDEBERT-BELLANGER, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noelle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Coeslier, Anne Dieux, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, CHEHADEH, salima EL, additional, Faivre, Laurence, additional, FRADIN, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, HARZALLAH, Ines, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Horn, Xavier Le Guillou, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaetan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godelieve, additional, Marçais, Nolwenn Jean, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, PASQUIER, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quelin, Chloé, additional, Quemener, Sylvia, additional, Rama, Mélanie, additional, RIO, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, SAUGIER-VEBER, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, TOURAINE, Renaud, additional, Tran-Mau-Them, Frédéric, additional, Trimouille, Aurélien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional

Published
2023
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21. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

Author

Tran Mau-Them, Frédéric, primary, Delanne, Julian, additional, Denommé-Pichon, Anne-Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Vitobello, Antonio, additional, Garde, Aurore, additional, Nambot, Sophie, additional, Bourgon, Nicolas, additional, Racine, Caroline, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Marle, Nathalie, additional, Rousseau, Thierry, additional, Sagot, Paul, additional, Simon, Emmanuel, additional, Vincent-Delorme, Catherine, additional, Boute, Odile, additional, Colson, Cindy, additional, Petit, Florence, additional, Legendre, Marine, additional, Naudion, Sophie, additional, Rooryck, Caroline, additional, Prouteau, Clément, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Morel, Godelieve, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoé, additional, Quelin, Chloé, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Vera, Gabriella, additional, Goldenberg, Alice, additional, Guerrot, Anne-Marie, additional, Brehin, Anne-Claire, additional, Putoux, Audrey, additional, Attia, Jocelyne, additional, Abel, Carine, additional, Blanchet, Patricia, additional, Wells, Constance F., additional, Deiller, Caroline, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Isidor, Bertrand, additional, Amiel, Jeanne, additional, Dard, Rodolphe, additional, Godin, Manon, additional, Gruchy, Nicolas, additional, Jeanne, Médéric, additional, Schaeffer, Elise, additional, Maillard, Pierre-Yves, additional, Payet, Frédérique, additional, Jacquemont, Marie-Line, additional, Francannet, Christine, additional, Sigaudy, Sabine, additional, Bergot, Marine, additional, Tisserant, Emilie, additional, Ascencio, Marie-Laure, additional, Binquet, Christine, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional

Published
2023
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22. Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

Author

Courdier, Cécile, primary, Boudjarane, John, additional, Malan, Valérie, additional, Muti, Christine, additional, Sperelakis‐Beedham, Brian, additional, Odent, Sylvie, additional, Jaillard, Sylvie, additional, Quelin, Chloé, additional, Le Caignec, Cédric, additional, Patat, Olivier, additional, Dubucs, Charlotte, additional, Julia, Sophie, additional, Schluth‐Bolard, Caroline, additional, Goumy, Carole, additional, Redon, Sylvia, additional, Gaillard, Jean‐Baptiste, additional, Huynh, Minh Tuan, additional, Dupont, Céline, additional, Tabet, Anne‐Claude, additional, Cogan, Guillaume, additional, Vialard, François, additional, Dard, Rodolphe, additional, Jedraszak, Guillaume, additional, Jobic, Florence, additional, Lefebvre, Mathilde, additional, Quenum, Geneviève, additional, Inai, Saori, additional, Rama, Mélanie, additional, Sauvestre, Fanny, additional, Coatleven, Frédéric, additional, Thomas, Julie, additional, and Rooryck, Caroline, additional

Published
2023
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23. The Severity of Congenital Hypothyroidism With Gland-In-Situ Predicts Molecular Yield by Targeted Next-Generation Sequencing

Author

Levaillant, Lucie, primary, Bouhours-Nouet, Natacha, additional, Illouz, Frédéric, additional, Amsellem Jager, Jessica, additional, Bachelot, Anne, additional, Barat, Pascal, additional, Baron, Sabine, additional, Bensignor, Candace, additional, Brac De La Perriere, Aude, additional, Braik Djellas, Yasmine, additional, Caillot, Morgane, additional, Caldagues, Emmanuelle, additional, Campas, Marie-Neige, additional, Caquard, Marylène, additional, Cartault, Audrey, additional, Cheignon, Julie, additional, Decrequy, Anne, additional, Delemer, Brigitte, additional, Dieckmann, Katherine, additional, Donzeau, Aurélie, additional, Doye, Emilie, additional, Fradin, Mélanie, additional, Gaudillière, Mélanie, additional, Gatelais, Frédérique, additional, Gorce, Magali, additional, Hazart, Isabelle, additional, Houcinat, Nada, additional, Houdon, Laure, additional, Ister-Salome, Marielle, additional, Jozwiak, Lucie, additional, Jeannoel, Patrick, additional, Labarthe, Francois, additional, Lacombe, Didier, additional, Lambert, Anne-Sophie, additional, Lefevre, Christine, additional, Leheup, Bruno, additional, Leroy, Clara, additional, Maisonneuve, Benedicte, additional, Marchand, Isis, additional, Marquant, Emeline, additional, Muszlak, Matthias, additional, Pantalone, Letitia, additional, Pochelu, Sandra, additional, Quelin, Chloé, additional, Radet, Catherine, additional, Renoult-Pierre, Peggy, additional, Reynaud, Rachel, additional, Rouleau, Stéphanie, additional, Teinturier, Cécile, additional, Thevenon, Julien, additional, Turlotte, Caroline, additional, Valle, Aline, additional, Vierge, Melody, additional, Villanueva, Carine, additional, Ziegler, Alban, additional, Dieu, Xavier, additional, Bouzamondo, Nathalie, additional, Rodien, Patrice, additional, Prunier-Mirebeau, Delphine, additional, and Coutant, Régis, additional

Published
2023
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24. Correction to: Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities

Author

Carmignac, Virginie, Mignot, Cyril, Blanchard, Emmanuelle, Kuentz, Paul, Aubriot-Lorton, Marie-Hélène, Parker, Victoria E. R., Sorlin, Arthur, Fraitag, Sylvie, Courcet, Jean-Benoît, Duffourd, Yannis, Rodriguez, Diana, Knox, Rachel G., Polubothu, Satyamaanasa, Boland, Anne, Olaso, Robert, Delepine, Marc, Darmency, Véronique, Riachi, Melissa, Quelin, Chloé, Rollier, Paul, Goujon, Louise, Grotto, Sarah, Capri, Yline, Jacquemont, Marie-Line, Odent, Sylvie, Amram, Daniel, Chevarin, Martin, Vincent-Delorme, Catherine, Catteau, Benoît, Guibaud, Laurent, Arzimanoglou, Alexis, Keddar, Malika, Sarret, Catherine, Callier, Patrick, Bessis, Didier, Geneviève, David, Deleuze, Jean-François, Thauvin, Christel, Semple, Robert K., Philippe, Christophe, Rivière, Jean-Baptiste, Kinsler, Veronica A., Faivre, Laurence, and Vabres, Pierre

Published
2021
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26. Karyotype is not dead (yet)!

Author

Pasquier, Laurent, Fradin, Mélanie, Chérot, Elouan, Martin-Coignard, Dominique, Colin, Estelle, Journel, Hubert, Demurger, Florence, Akloul, Linda, Quélin, Chloé, Jauffret, Vincent, Lucas, Josette, Belaud-Rotureau, Marc-Antoine, Odent, Sylvie, and Jaillard, Sylvie

Published
2016
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27. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author

Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, and Bourgeron, Thomas

Published
2019
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28. Correction: IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Author

Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M., Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., and Depienne, Christel

Published
2019
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31. Supplemental Material - Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant

Author

Cospain, Auriane, Faoucher, Marie, Cauchois, Aurélie, Carre, Wilfrid, Quelin, Chloé, and Dubourg, Christèle

Subjects
FOS: Clinical medicine, 111403 Paediatrics, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified
Abstract

Supplemental Material for Fetal Description of the Pancreatic Agenesis and Holoprosencephaly Syndrome Associated to a Specific CNOT1 Variant by Auriane Cospain, Marie Faoucher, Aurélie Cauchois, Wilfrid Carre, Chloé Quelin, and Christèle Dubourg in Pediatric and Developmental Pathology.

Published
2022
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32. Impaired catabolism of free oligosaccharides due to MAN2C1 variants causes a neurodevelopmental disorder

Author

Maia, Nuno, primary, Potelle, Sven, additional, Yildirim, Hamide, additional, Duvet, Sandrine, additional, Akula, Shyam K., additional, Schulz, Celine, additional, Wiame, Elsa, additional, Gheldof, Alexander, additional, O’Kane, Katherine, additional, Lai, Abbe, additional, Sermon, Karen, additional, Proisy, Maïa, additional, Loget, Philippe, additional, Attié-Bitach, Tania, additional, Quelin, Chloé, additional, Fortuna, Ana Maria, additional, Soares, Ana Rita, additional, de Brouwer, Arjan P.M., additional, Van Schaftingen, Emile, additional, Nassogne, Marie-Cécile, additional, Walsh, Christopher A., additional, Stouffs, Katrien, additional, Jorge, Paula, additional, Jansen, Anna C., additional, and Foulquier, François, additional

Published
2022
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33. Role of Chromosomal Imbalances in the Pathogenesis of DSD: A Retrospective Analysis of 4657 Prenatal Samples

Author

Mary, Laura, primary, Fradin, Melanie, additional, Pasquier, Laurent, additional, Quelin, Chloé, additional, Loget, Philippe, additional, Le Lous, Maëla, additional, Le Bouar, Gwénaëlle, additional, Nivot-Adamiak, Sylvie, additional, Lokchine, Anna, additional, Dubourg, Christèle, additional, Jauffret, Vincent, additional, Nouyou, Bénédicte, additional, Henry, Catherine, additional, Launay, Erika, additional, Odent, Sylvie, additional, Jaillard, Sylvie, additional, and Belaud-Rotureau, Marc-Antoine, additional

Published
2022
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34. Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

Author

Forde, Claire, primary, Burkitt-Wright, Emma, additional, Turnpenny, Peter D., additional, Haan, Eric, additional, Ealing, John, additional, Mansour, Sahar, additional, Holder, Muriel, additional, Lahiri, Nayana, additional, Dixit, Abhijit, additional, Procter, Annie, additional, Pacot, Laurence, additional, Vidaud, Dominique, additional, Capri, Yline, additional, Gerard, Marion, additional, Dollfus, Hélène, additional, Schaefer, Elise, additional, Quelin, Chloé, additional, Sigaudy, Sabine, additional, Busa, Tiffany, additional, Vera, Gabriella, additional, Damaj, Lena, additional, Messiaen, Ludwine, additional, Stevenson, David A., additional, Davies, Peter, additional, Palmer-Smith, Sheila, additional, Callaway, Alison, additional, Wolkenstein, Pierre, additional, Pasmant, Eric, additional, and Upadhyaya, Meena, additional

Published
2021
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36. Severe Phenotype in Patients with Large Deletions of NF1

Author

Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga, Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Coeslier, Anne Dieux, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Network, members of the NF France, Wolkenstein, Pierre, and Pasmant, Eric

Subjects
congenital, hereditary, and neonatal diseases and abnormalities, cardiovascular abnormalities, dysmorphism, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, NF1 deletion, genotype–phenotype correlation, skeletal abnormalities, neurofibromatosis type 1, eye diseases, nervous system diseases, NF1, neurofibromas, NFs, MPNSTs, learning disabilities, malignant peripheral nerve sheath tumors, tumor predisposition, neoplasms, RC254-282
Abstract

Complete deletion of the NF1 gene is identified in 5–10% of patients with neurofibromatosis type 1 (NF1). Several studies have previously described particularly severe forms of the disease in NF1 patients with deletion of the NF1 locus, but comprehensive descriptions of large cohorts are still missing to fully characterize this contiguous gene syndrome. NF1-deleted patients were enrolled and phenotypically characterized with a standardized questionnaire between 2005 and 2020 from a large French NF1 cohort. Statistical analyses for main NF1-associated symptoms were performed versus an NF1 reference population. A deletion of the NF1 gene was detected in 4% (139/3479) of molecularly confirmed NF1 index cases. The median age of the group at clinical investigations was 21 years old. A comprehensive clinical assessment showed that 93% (116/126) of NF1-deleted patients fulfilled the NIH criteria for NF1. More than half had café-au-lait spots, skinfold freckling, Lisch nodules, neurofibromas, neurological abnormalities, and cognitive impairment or learning disabilities. Comparison with previously described “classic” NF1 cohorts showed a significantly higher proportion of symptomatic spinal neurofibromas, dysmorphism, learning disabilities, malignancies, and skeletal and cardiovascular abnormalities in the NF1-deleted group. We described the largest NF1-deleted cohort to date and clarified the more severe phenotype observed in these patients.

Published
2021

37. Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

Author

Liu, Hui, primary, Giguet‐Valard, Anna‐Gaëlle, additional, Simonet, Thomas, additional, Szenker‐Ravi, Emmanuelle, additional, Lambert, Laetitia, additional, Vincent‐Delorme, Catherine, additional, Scheidecker, Sophie, additional, Fradin, Mélanie, additional, Morice‐Picard, Fanny, additional, Naudion, Sophie, additional, Ciorna‐Monferrato, Viorica, additional, Colin, Estelle, additional, Fellmann, Florence, additional, Blesson, Sophie, additional, Jouk, Pierre‐Simon, additional, Francannet, Christine, additional, Petit, Florence, additional, Moutton, Sébastien, additional, Lehalle, Daphné, additional, Chassaing, Nicolas, additional, El Zein, Loubna, additional, Bazin, Anne, additional, Bénéteau, Claire, additional, Attié‐Bitach, Tania, additional, Hanu, Sylvie M., additional, Brechard, Marie‐Pierre, additional, Chiesa, Jean, additional, Pasquier, Laurent, additional, Rooryck, Caroline, additional, Van Maldergem, Lionel, additional, Cabrol, Christelle, additional, El Chehadeh, Salima, additional, Vasiljevic, Alexandre, additional, Isidor, Bertrand, additional, Abel, Carine, additional, Thevenon, Julien, additional, Di Filippo, Sylvie, additional, Vigouroux‐Castera, Adeline, additional, Attia, Jocelyne, additional, Quelin, Chloé, additional, Odent, Sylvie, additional, Piard, Juliette, additional, Giuliano, Fabienne, additional, Putoux, Audrey, additional, Khau Van Kien, Philippe, additional, Yardin, Catherine, additional, Touraine, Renaud, additional, Reversade, Bruno, additional, and Bouvagnet, Patrice, additional

Published
2020
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38. LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity

Author

Saillour, Yoann, Carion, Nathalie, Quelin, Chloé, Leger, Pierre-Louis, Boddaert, Nathalie, Elie, Caroline, Toutain, Annick, Mercier, Sandra, Barthez, Marie Anne, Milh, Mathieu, Joriot, Sylvie, des Portes, Vincent, Philip, Nicole, Broglin, Dominique, Roubertie, Agathe, Pitelet, Gaelle, Moutard, Marie Laure, Pinard, Jean Marc, Cances, Claude, Kaminska, Anna, Chelly, Jamel, Beldjord, Chérif, and Bahi-Buisson, Nadia

Published
2009
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39. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients

Author

Genetica Klinische Genetica, Circulatory Health, Metabole ziekten patientenzorg, Child Health, Cluster C, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman, Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, Depienne, Christel, Genetica Klinische Genetica, Circulatory Health, Metabole ziekten patientenzorg, Child Health, Cluster C, Genetica Oper. Mangt Genoom Diagnostiek, Brain, Genetica Groep Koeleman, Mignot, Cyril, McMahon, Aoife C, Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G, Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J, Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M, Hagebeuk, Eveline, Hamdan, Fadi F, Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L, Miller, Kathryn, Minassian, Berge A, Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R, Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R, Roume, Joelle, Rossignol, Elsa, Simon, Marleen E H, Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P, van der Smagt, Jasper J, van Hasselt, Peter M, van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S, Lesca, Gaetan, Helbig, Katherine L, Nabbout, Rima, Verbeek, Nienke E, and Depienne, Christel

Published
2019

40. Deciphering the Causal Diagnosis of Hydrops Fetalis or Unexplained Fetal Anemia Using Targeted Next Generation and Exome Sequencing

Author

Galimand, Julie, primary, Bourdeau, Helene, additional, Fenneteau, Odile, additional, Dreux, Sophie, additional, Couque, Nathalie, additional, Drunat, Severine, additional, Pissard, Serge, additional, Leblanc, Thierry, additional, Lambilliotte, Anne, additional, Thong Vanh, Catherine, additional, Alby, Caroline, additional, martinovic-Bouriel, jelena-Hélène, additional, Quelin, Chloé, additional, Narla, Mohandas, additional, Cortey, Anne, additional, and Da Costa, Lydie, additional

Published
2019
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41. Microduplications 22q11.2 typiques et atypiques en fœtopathologie

Author

Perrot, Adélie, primary, Loget, Philippe, additional, Beaumont, Marion, additional, Launay, Erika, additional, Quelin, Chloé, additional, Le Bouar, Gwenaelle, additional, Rollier, Paul, additional, Fradin, Mélanie, additional, Demurger, Florence, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Belaud-Rotureau, Marc-Antoine, additional, and Jaillard, Sylvie, additional

Published
2019
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43. Fetal cerebral hemorrhage due to X-linkedGATA1gene mutation

Author

Bouchghoul, Hanane, primary, Quelin, Chloé, additional, Loget, Philippe, additional, Encha-Razavi, Féréchté, additional, Senat, Marie-Victoire, additional, Maheut, Lorraine, additional, Galimand, Julie, additional, Collardeau-Frachon, Sophie, additional, Da Costa, Lydie, additional, and Martinovic, Jelena, additional

Published
2018
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44. Analyse chromosomique par puce à ADN (ACPA) en fœtopathologie et diagnostic prénatal : retour d’expérience du service de cytogénétique et biologie cellulaire du CHU de Rennes

Author

Beaumont, Marion, primary, Loget, Philippe, additional, Launay, Erika, additional, Gournay, Marjorie, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Pasquier, Laurent, additional, Le Bouar, Gwénaelle, additional, Rioux-Leclercq, Nathalie, additional, Odent, Sylvie, additional, Belaud-Rotureau, Marc-Antoine, additional, and Jaillard, Sylvie, additional

Published
2017
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45. A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author

Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, El Khattabi, Laila, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Leblond, Claire S., additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional

Published
2017
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46. A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Author

Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, Dupont, Jean-Michel, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional

Published
2017
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48. Fetal cerebral hemorrhage due to X-linked GATA1 gene mutation.

Author

Bouchghoul, Hanane, Quelin, Chloé, Loget, Philippe, Encha‐Razavi, Féréchté, Senat, Marie‐Victoire, Maheut, Lorraine, Galimand, Julie, Collardeau‐Frachon, Sophie, Da Costa, Lydie, Martinovic, Jelena, Encha-Razavi, Féréchté, Senat, Marie-Victoire, and Collardeau-Frachon, Sophie

Subjects
CEREBRAL hemorrhage, FETAL diseases, GENETICS, GENETIC mutation, PROTEINS
Abstract

We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present. [ABSTRACT FROM AUTHOR]

Published
2018
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49. Phenotypic spectrum of fetal Smith–Lemli–Opitz syndrome

Author

Quélin, Chloé, Loget, Philippe, Verloes, Alain, Bazin, Anne, Bessières, Bettina, Laquerrière, Annie, Patrier, Sophie, Grigorescu, Romulus, Encha-Razavi, Ferechté, Delahaye, Sophie, Jouannic, Jean-Marie, Carbonne, Bruno, D’Hervé, Dominique, Aubry, Marie-Cécile, Macé, Guillaume, Harvey, Thierry, Ville, Yves, Viot, Geraldine, Joyé, Nicole, Odent, Sylvie, Attié-Bitach, Tania, Wolf, Claude, Chevy, Françoise, Benlian, Pascale, and Gonzales, Marie

Published
2012
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