Risultati della ricerca - Perrin, Laurence

Two Monogenetic Disorders, Activated PI3-Kinase-δ Syndrome 2 and Smith–Magenis Syndrome, in One Patient: Case Report and a Literature Review of Neurodevelopmental Impact in Primary... di Moreno-Corona, Nidia, Chentout, Loïc, Poggi, Lucie, Thouenon, Romane, Masson, Cecile, Parisot, Melanie, Mouel, Lou Le, Picard, Capucine, André, Isabelle, Cavazzana, Marina, Perrin, Laurence, Durandy, Anne, Azarnoush, Saba, Kracker, Sven

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Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder di Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina

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NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients di Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

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Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis di Mary, Laura, Piton, Amélie, Schaefer, Elise, Mattioli, Francesca, Nourisson, Elsa, Feger, Claire, Redin, Claire, Barth, Magali, El Chehadeh, Salima, Colin, Estelle, Coubes, Christine, Faivre, Laurence, Flori, Elisabeth, Geneviève, David, Capri, Yline, Perrin, Laurence, Fabre-Teste, Jennifer, Timbolschi, Dana, Verloes, Alain, Olaso, Robert, Boland, Anne, Deleuze, Jean-François, Mandel, Jean-Louis, Gerard, Bénédicte, Giurgea, Irina

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New insights into DNA methylation signatures: SMARCA2 variants in Nicolaides-Baraitser syndrome di Chater-Diehl, Eric, Ejaz, Resham, Cytrynbaum, Cheryl, Siu, Michelle T., Turinsky, Andrei, Choufani, Sanaa, Goodman, Sarah J., Abdul-Rahman, Omar, Bedford, Melanie, Dorrani, Naghmeh, Engleman, Kendra, Flores-Daboub, Josue, Genevieve, David, Mendoza-Londono, Roberto, Meschino, Wendy, Perrin, Laurence, Safina, Nicole, Townshend, Sharron, Scherer, Stephen W., Anagnostou, Evdokia, Piton, Amelie, Deardorff, Matthew, Brudno, Michael, Chitayat, David, Weksberg, Rosanna

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Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia di Cavé, Hélène, Caye, Aurélie, Ghedira, Nehla, Capri, Yline, Pouvreau, Nathalie, Fillot, Natacha, Trimouille, Aurélien, Vignal, Cédric, Fenneteau, Odile, Alembik, Yves, Alessandri, Jean-Luc, Blanchet, Patricia, Boute, Odile, Bouvagnet, Patrice, David, Albert, Dieux Coeslier, Anne, Doray, Bérénice, Dulac, Olivier, Drouin-Garraud, Valérie, Gérard, Marion, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Lyonnet, Stanislas, Perrin, Laurence, Rio, Marlène, Roume, Joëlle, Sauvion, Sylvie, Toutain, Annick, Vincent-Delorme, Catherine, Willems, Marjorie, Baumann, Clarisse, Verloes, Alain

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Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy di Assoum, Mirna, Philippe, Christophe, Isidor, Bertrand, Perrin, Laurence, Makrythanasis, Periklis, Sondheimer, Neal, Paris, Caroline, Douglas, Jessica, Lesca, Gaetan, Antonarakis, Stylianos, Hamamy, Hanan, Jouan, Thibaud, Duffourd, Yannis, Auvin, Stéphane, Saunier, Aline, Begtrup, Amber, Nowak, Catherine, Chatron, Nicolas, Ville, Dorothée, Mireskandari, Kamiar, Milani, Paolo, Jonveaux, Philippe, Lemeur, Guylène, Milh, Mathieu, Amamoto, Masano, Kato, Mitsuhiro, Nakashima, Mitsuko, Miyake, Noriko, Matsumoto, Naomichi, Masri, Amira, Thauvin-Robinet, Christel, Rivière, Jean-Baptiste, Faivre, Laurence, Thevenon, Julien

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De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism di Diets, Illja J., van der Donk, Roos, Baltrunaite, Kristina, Waanders, Esmé, Reijnders, Margot R.F., Dingemans, Alexander J.M., Pfundt, Rolph, Vulto-van Silfhout, Anneke T., Wiel, Laurens, Gilissen, Christian, Thevenon, Julien, Perrin, Laurence, Afenjar, Alexandra, Nava, Caroline, Keren, Boris, Bartz, Sarah, Peri, Bethany, Beunders, Gea, Verbeek, Nienke, van Gassen, Koen, Thiffault, Isabelle, Cadieux-Dion, Maxime, Huerta-Saenz, Lina, Wagner, Matias, Konstantopoulou, Vassiliki, Vodopiutz, Julia, Griese, Matthias, Boel, Annekatrien, Callewaert, Bert, Brunner, Han G., Kleefstra, Tjitske, Hoogerbrugge, Nicoline, de Vries, Bert B.A., Hwa, Vivian, Dauber, Andrew, Hehir-Kwa, Jayne Y., Kuiper, Roland P., Jongmans, Marjolijn C.J.

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Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders di Stessman, Holly A.F., Willemsen, Marjolein H., Fenckova, Michaela, Penn, Osnat, Hoischen, Alexander, Xiong, Bo, Wang, Tianyun, Hoekzema, Kendra, Vives, Laura, Vogel, Ida, Brunner, Han G., van der Burgt, Ineke, Ockeloen, Charlotte W., Schuurs-Hoeijmakers, Janneke H., Klein Wassink-Ruiter, Jolien S., Stumpel, Connie, Stevens, Servi J.C., Vles, Hans S., Marcelis, Carlo M., van Bokhoven, Hans, Cantagrel, Vincent, Colleaux, Laurence, Nicouleau, Michael, Lyonnet, Stanislas, Bernier, Raphael A., Gerdts, Jennifer, Coe, Bradley P., Romano, Corrado, Alberti, Antonino, Grillo, Lucia, Scuderi, Carmela, Nordenskjöld, Magnus, Kvarnung, Malin, Guo, Hui, Xia, Kun, Piton, Amélie, Gerard, Bénédicte, Genevieve, David, Delobel, Bruno, Lehalle, Daphne, Perrin, Laurence, Prieur, Fabienne, Thevenon, Julien, Gecz, Jozef, Shaw, Marie, Pfundt, Rolph, Keren, Boris, Jacquette, Aurelia, Schenck, Annette, Eichler, Evan E., Kleefstra, Tjitske

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Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments di Leblond, Claire S., Nava, Caroline, Polge, Anne, Gauthier, Julie, Huguet, Guillaume, Lumbroso, Serge, Giuliano, Fabienne, Stordeur, Coline, Depienne, Christel, Mouzat, Kevin, Pinto, Dalila, Howe, Jennifer, Lemière, Nathalie, Durand, Christelle M., Guibert, Jessica, Ey, Elodie, Toro, Roberto, Peyre, Hugo, Mathieu, Alexandre, Amsellem, Frédérique, Rastam, Maria, Gillberg, I. Carina, Rappold, Gudrun A., Holt, Richard, Monaco, Anthony P., Maestrini, Elena, Galan, Pilar, Heron, Delphine, Jacquette, Aurélia, Afenjar, Alexandra, Rastetter, Agnès, Brice, Alexis, Devillard, Françoise, Assouline, Brigitte, Laffargue, Fanny, Lespinasse, James, Chiesa, Jean, Rivier, François, Bonneau, Dominique, Regnault, Beatrice, Zelenika, Diana, Delepine, Marc, Lathrop, Mark, Sanlaville, Damien, Schluth-Bolard, Caroline, Edery, Patrick, Perrin, Laurence, Tabet, Anne Claude, Schmeisser, Michael J., Boeckers, Tobias M., Coleman, Mary, Sato, Daisuke, Szatmari, Peter, Scherer, Stephen W., Rouleau, Guy A., Betancur, Catalina, Leboyer, Marion, Gillberg, Christopher, Delorme, Richard, Bourgeron, Thomas

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A framework to identify contributing genes in patients with Phelan-McDermid syndrome di 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, Bourgeron, Thomas

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Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome di 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, Bourgeron, Thomas

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Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases di Marcogliese, Paul C., Deal, Samantha L., Andrews, Jonathan, Harnish, J. Michael, Bhavana, V. Hemanjani, Graves, Hillary K., Jangam, Sharayu, Luo, Xi, Liu, Ning, Bei, Danqing, Chao, Yu-Hsin, Hull, Brooke, Lee, Pei-Tseng, Pan, Hongling, Bhadane, Pradnya, Huang, Mei-Chu, Longley, Colleen M., Chao, Hsiao-Tuan, Chung, Hyung-lok, Haelterman, Nele A., Kanca, Oguz, Manivannan, Sathiya N., Rossetti, Linda Z., German, Ryan J., Gerard, Amanda, Schwaibold, Eva Maria Christina, Fehr, Sarah, Guerrini, Renzo, Vetro, Annalisa, England, Eleina, Murali, Chaya N., Barakat, Tahsin Stefan, van Dooren, Marieke F., Wilke, Martina, van Slegtenhorst, Marjon, Lesca, Gaetan, Sabatier, Isabelle, Chatron, Nicolas, Brownstein, Catherine A., Madden, Jill A., Agrawal, Pankaj B., Keren, Boris, Courtin, Thomas, Perrin, Laurence, Brugger, Melanie, Roser, Timo, Leiz, Steffen, Mau-Them, Frederic Tran, Delanne, Julian, Sukarova-Angelovska, Elena, Trajkova, Slavica, Rosenhahn, Erik, Strehlow, Vincent, Platzer, Konrad, Keller, Roberto, Pavinato, Lisa, Brusco, Alfredo, Rosenfeld, Jill A., Marom, Ronit, Wangler, Michael F., Yamamoto, Shinya

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Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita di Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith

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Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency di Zawerton, Ash, Mignot, Cyril, Sigafoos, Ashley, Blackburn, Patrick R., Haseeb, Abdul, McWalter, Kirsty, Ichikawa, Shoji, Nava, Caroline, Keren, Boris, Charles, Perrine, Marey, Isabelle, Tabet, Anne-Claude, Levy, Jonathan, Perrin, Laurence, Hartmann, Andreas, Lesca, Gaetan, Schluth-Bolard, Caroline, Monin, Pauline, Dupuis-Girod, Sophie, Guillen Sacoto, Maria J., Schnur, Rhonda E., Zhu, Zehua, Poisson, Alice, Chehadeh, Salima El, Alembik, Yves, Bruel, Ange-Line, Lehalle, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, Hilhorst-Hofstee, Yvonne, Barbaro-Dieber, Tina, Ortega, Lucia, Bhoj, Elizabeth J., Masser-Frye, Diane, Bird, Lynne M., Lindstrom, Kristin, Ramsey, Keri M., Narayanan, Vinodh, Fassi, Emily, Willing, Marcia, Cole, Trevor, Salter, Claire G., Akilapa, Rhoda, Vandersteen, Anthony, Canham, Natalie, Rump, Patrick, Gerkes, Erica H., Wassink-Ruiter, Klein Jolien S., Bijlsma, Emilia, Hoffer, Mariëtte J. V., Vargas, Marcelo, Wojcik, Antonina, Cherik, Florian, Francannet, Christine, Rosenfeld, Jill A., Machol, Keren, Scott, Daryl A., Bacino, Carlos A., Wang, Xia, Clark, Gary D., Bertoli, Marta, Zwolinski, Simon, Thomas, Rhys H., Akay, Ela, Chang, Richard C., Bressi, Rebekah, Russo, Rossana Sanchez, Srour, Myriam, Russell, Laura, Goyette, Anne-Marie E., Dupuis, Lucie, Mendoza-Londono, Roberto, Karimov, Catherine, Joseph, Maries, Nizon, Mathilde, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W., Lefebvre, Véronique, Clark, Karl J., Depienne, Christel

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