Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle
Published in European journal of human genetics : EJHG (28.05.2024)
Published in European journal of human genetics : EJHG (28.05.2024)
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Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature
Milon, Vincent, Malinge, Marie-Claire, Blanluet, Maud, Tessarech, Marine, Battault, Clarisse, Prestwich, Sarah, Vary, Béatrice, Gueracher, Pierre, Legoff, Louis, Barth, Magalie, Houdayer, Clara, Guichet, Agnès, Rousseau, Audrey, Bonneau, Dominique, Procaccio, Vincent, Bris, Céline, Colin, Estelle
Published in European journal of human genetics : EJHG (22.07.2024)
Published in European journal of human genetics : EJHG (22.07.2024)
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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability
Ziegler, Alban, Bader, Patricia, McWalter, Kirsty, Douglas, Ganka, Houdayer, Clara, Bris, Céline, Rouleau, Stephanie, Coutant, Régis, Colin, Estelle, Bonneau, Dominique
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs
Houdayer, Clara, Ziegler, Alban, Boussion, Françoise, Blesson, Sophie, Bris, Céline, Toutain, Annick, Biquard, Florence, Guichet, Agnès, Bonneau, Dominique, Colin, Estelle
Published in The journal of maternal-fetal & neonatal medicine (03.07.2021)
Published in The journal of maternal-fetal & neonatal medicine (03.07.2021)
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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants
Cuccurullo, Claudia, Cerulli Irelli, Emanuele, Ugga, Lorenzo, Riva, Antonella, D'Amico, Alessandra, Cabet, Sara, Lesca, Gaetan, Bilo, Leonilda, Zara, Federico, Iliescu, Catrinel, Barca, Diana, Fung, France, Helbig, Katherine, Ortiz‐Gonzalez, Xilma, Schelhaas, Helenius J., Willemsen, Marjolein H., van der Linden, Inge, Canafoglia, Laura, Courage, Carolina, Gommaraschi, Samuele, Gonzalez‐Alegre, Pedro, Bardakjian, Tanya, Syrbe, Steffen, Schuler, Elisabeth, Lemke, Johannes R., Vari, Stella, Roende, Gitte, Bak, Mads, Huq, Mahbulul, Powis, Zoe, Johannesen, Katrine M., Hammer, Trine Bjørg, Møller, Rikke S., Rabin, Rachel, Pappas, John, Zupanc, Mary L., Zadeh, Neda, Cohen, Julie, Naidu, Sakkubai, Krey, Ilona, Saneto, Russell, Thies, Jenny, Licchetta, Laura, Tinuper, Paolo, Bisulli, Francesca, Minardi, Raffaella, Bayat, Allan, Villeneuve, Nathalie, Molinari, Florence, Salimi Dafsari, Hormos, Moller, Birk, Le Roux, Marie, Houdayer, Clara, Vecchi, Marilena, Mammi, Isabella, Fiorini, Elena, Proietti, Jacopo, Ferri, Sofia, Cantalupo, Gaetano, Battaglia, Domenica Immacolata, Gambardella, Maria Luigia, Contaldo, Ilaria, Brogna, Claudia, Trivisano, Marina, De Dominicis, Angela, Bova, Stefania Maria, Gardella, Elena, Striano, Pasquale, Coppola, Antonietta
Published in Epilepsia (Copenhagen) (02.07.2024)
Published in Epilepsia (Copenhagen) (02.07.2024)
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Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders
Houdayer, Clara, Phillips, A Marie, Chabbert, Marie, Bourreau, Jennifer, Maroofian, Reza, Houlden, Henry, Richards, Kay, Saadi, Nebal Waill, Dad'ová, Eliška, Van Bogaert, Patrick, Rupin, Mailys, Keren, Boris, Charles, Perrine, Smol, Thomas, Riquet, Audrey, Pais, Lynn, O'Donnell-Luria, Anne, VanNoy, Grace E, Bayat, Allan, Møller, Rikke S, Olofsson, Kern, Abou Jamra, Rami, Syrbe, Steffen, Dasouki, Majed, Seaver, Laurie H, Sullivan, Jennifer A, Shashi, Vandana, Alkuraya, Fowzan S, Poss, Alexis F, Spence, J Edward, Schnur, Rhonda E, Forster, Ian C, Mckenzie, Chaseley E, Simons, Cas, Wang, Min, Snell, Penny, Kothur, Kavitha, Buckley, Michael, Roscioli, Tony, Elserafy, Noha, Dauriat, Benjamin, Procaccio, Vincent, Henrion, Daniel, Lenaers, Guy, Colin, Estelle, Verbeek, Nienke E, Van Gassen, Koen L, Legendre, Claire, Bonneau, Dominique, Reid, Christopher A, Howell, Katherine B, Ziegler, Alban, Legros, Christian
Published in medRxiv : the preprint server for health sciences (22.03.2024)
Published in medRxiv : the preprint server for health sciences (22.03.2024)
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Unveiling the crucial neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
Küry, Sébastien, Stanton, Janelle E, Hsieh, Tzung-Chien, Rosenfelt, Cory, Most, Victoria, de Konink, Charlotte, Deb, Wallid, Studencka-Turski, Maja, Besnard, Thomas, Hajdukowicz, Anna Marta, Möller, Sophie, Florenceau, Laëtitia, Cuinat, Silvestre, Marsac, Sylvain, Wentzensen, Ingrid, Tuttle, Annabelle, Striesow, Johanna, Golnik, Richard, Jenkins, Laura, Houdayer, Clara, Bonneau, Dominique, Torti, Erin, Begtrup, Amber, Mullegama, Sureni V, Volker-Touw, C M L Nienke, van Gassen, Koen L I, Steindl, Katharina, Rauch, Anita, Ivanovski, Ivan, McDonald, Kimberly, Boothe, Emily, Dauber, Andrew, Baker, Janice, Bernier, Raphael A, Turner, Tychele N, Srivastava, Siddharth, Dies, Kira A, Swanson, Lindsay, Jobling, Rebekah K, Pappas, John, Rabin, Rachel, Niyazov, Dmitriy, Kovak, Karen, Beck, David B, Malicdan, McV, Adams, David R, Ganetzky, Rebecca D, Sedláček, Zdeněk, Hančárová, Miroslava, Al Saif, Hind, Nestler, Berkley, King, Kayla, Prendergast, D'Arcy, Li, Chumei, Geneviève, David, Vitobello, Antonio, Philippe, Christophe, Harel, Tamar, Toker, Ori, Sabir, Ataf, Lim, Derek, Hamilton, Mark, Bryson, Lisa, Cleary, Elaine, Weber, Sacha, Cueto-González, Anna Maria, Gómez-Andrés, David, Codina-Solà, Marta, Ververi, Athina, Pavlidou, Efterpi, Levy, Jonathan, Jurgensmeyer, Sarah, McRae, Anne M, Lessard, Mathieu Kent, D'Agostino, Maria Daniela, De Bie, Isabelle, Wegler, Meret, Jamra, Rami Abou, Bothe, Viktoria, Busch, Larissa M, Völker, Uwe, Hammer, Elke, Wende, Kristian, Cogné, Benjamin, Isidor, Bertrand, Meiler, Jens, Bosc-Rosati, Amélie, Bousquet, Marie-Pierre, Poschmann, Jeremie, Laumonnier, Frédéric, Hildebrand, Peter W, Eichler, Evan E, McWalter, Kirsty, Krawitz, Peter M, Droit, Arnaud, Grabrucker, Andreas M, Bolduc, Francois V, Bézieau, Stéphane, Ebstein, Frédéric, Krüger, Elke
Published in medRxiv : the preprint server for health sciences (26.01.2024)
Published in medRxiv : the preprint server for health sciences (26.01.2024)
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