Search Results - "Houdayer, Clara"

Correction: Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature by 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

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Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature by 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

“…Tuberous sclerosis complex (TSC) is a rare multisystemic disorder caused by a pathogenic variant in the TSC1 or TSC2 gene. A great phenotypic variability…”
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Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability by Ziegler, Alban, Bader, Patricia, McWalter, Kirsty, Douglas, Ganka, Houdayer, Clara, Bris, Céline, Rouleau, Stephanie, Coutant, Régis, Colin, Estelle, Bonneau, Dominique

“…TTI2 (MIM 614126) has been described as responsible for autosomal recessive intellectual disability (ID; MRT39, MIM:615541) in only two inbred families. Here,…”
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Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs by Houdayer, Clara, Ziegler, Alban, Boussion, Françoise, Blesson, Sophie, Bris, Céline, Toutain, Annick, Biquard, Florence, Guichet, Agnès, Bonneau, Dominique, Colin, Estelle

“…Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature,…”
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Clinical features and genotype–phenotype correlations in epilepsy patients with de novo DYNC1H1 variants by 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., 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

“…Objective DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1‐related epilepsy has been…”
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Prenatal diagnosis of Desbuquois dysplasia type 1 by whole exome sequencing before the occurrence of specific ultrasound signs by Houdayer, Clara, Ziegler, Alban, Boussion, Françoise, Blesson, Sophie, Bris, Céline, Toutain, Annick, Biquard, Florence, Guichet, Agnès, Bonneau, Dominique, Colin, Estelle

“…Desbuquois dysplasia is a very severe and sometimes lethal form of osteochondrodysplasia characterized by prenatal onset of severe micromelic short stature,…”
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