Search Results - Touraine, Renaud

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability by Benmakhlouf, Yousra, Touraine, Renaud, Harzallah, Ines, Zian, Zeineb, Ben Makhlouf, Kaoutar, Barakat, Amina, Ghailani Nourouti, Naima, Bennani Mechita, Mohcine

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Genetic Counselling Pitfall: Co-Occurrence of an 11.8-Mb Xp22 Duplication and an Xp21.2 Duplication Disrupting IL1RAPL1 by Chatron, Nicolas, Thibault, Lucie, Lespinasse, James, Labalme, Audrey, Schluth-Bolard, Caroline, Till, Marianne, Edery, Patrick, Touraine, Renaud, des Portes, Vincent, Lesca, Gaetan, Sanlaville, Damien

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Are polymorphisms of the immunoregulatory factor CD40LG implicated in acute transfusion reactions? by Aloui, Chaker, Sut, Caroline, Prigent, Antoine, Fagan, Jocelyne, Cognasse, Fabrice, Granados-Herbepin, Viviana, Touraine, Renaud, Pozzetto, Bruno, Aouni, Mahjoub, Fendri, Chedlia, Hassine, Mohsen, Chakroun, Tahar, Jemni-Yacoub, Saloua, Garraud, Olivier, Laradi, Sandrine

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Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder by Masson, Julie, Demily, Caroline, Chatron, Nicolas, Labalme, Audrey, Rollat-Farnier, Pierre-Antoine, Schluth-Bolard, Caroline, Gilbert-Dussardier, Brigitte, Giuliano, Fabienne, Touraine, Renaud, Tordjman, Sylvie, Verloes, Alain, Testa, Giuseppe, Sanlaville, Damien, Edery, Patrick, Lesca, Gaetan, Rossi, Massimiliano

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Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways by Ripoll, Clémentine, Rivals, Isabelle, Ait Yahya-Graison, Emilie, Dauphinot, Luce, Paly, Evelyne, Mircher, Clothilde, Ravel, Aimé, Grattau, Yann, Bléhaut, Henri, Mégarbane, André, Dembour, Guy, de Fréminville, Bénédicte, Touraine, Renaud, Créau, Nicole, Potier, Marie Claude, Delabar, Jean Maurice

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Large-Scale Deletions and SMADIP1 Truncating Mutations in Syndromic Hirschsprung Disease with Involvement of Midline Structures by Amiel, Jeanne, Espinosa-Parrilla, Yolanda, Steffann, Julie, Gosset, Philippe, Pelet, Anna, Prieur, Marguerite, Boute, Odile, Choiset, Agnès, Lacombe, Didier, Philip, Nicole, Le Merrer, Martine, Tanaka, Hajime, Till, Marianne, Touraine, Renaud, Toutain, Annick, Vekemans, Michel, Munnich, Arnold, Lyonnet, Stanislas

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Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4 by Bondurand, Nadege , Dastot-Le Moal, Florence , Stanchina, Laure , Collot, Nathalie , Baral, Viviane , Marlin, Sandrine , Attie-Bitach, Tania , Giurgea, Irina , Skopinski, Laurent , Reardon, William , Toutain, Annick , Sarda, Pierre , Echaieb, Anis , Lackmy-Port-Lis, Marilyn , Touraine, Renaud , Amiel, Jeanne , Goossens, Michel , Pingault, Veronique 

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Natural history of Barth syndrome: a national cohort study of 22 patients by Rigaud, Charlotte, Lebre, Anne-Sophie, Touraine, Renaud, Beaupain, Blandine, Ottolenghi, Chris, Chabli, Allel, Ansquer, Helene, Ozsahin, Hulya, Di Filippo, Sylvie, De Lonlay, Pascale, Borm, Betina, Rivier, Francois, Vaillant, Marie-Catherine, Mathieu-Dramard, Michèle, Goldenberg, Alice, Viot, Géraldine, Charron, Philippe, Rio, Marlene, Bonnet, Damien, Donadieu, Jean

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Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient by Burglen, Lydie, Chantot-Bastaraud, Sandra, Garel, Catherine, Milh, Mathieu, Touraine, Renaud, Zanni, Ginevra, Petit, Florence, Afenjar, Alexandra, Goizet, Cyril, Barresi, Sabina, Coussement, Aurélie, Ioos, Christine, Lazaro, Leila, Joriot, Sylvie, Desguerre, Isabelle, Lacombe, Didier, des Portes, Vincent, Bertini, Enrico, Siffroi, Jean-Pierre, Billette de Villemeur, Thierry, Rodriguez, Diana

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A Novel Analog Reasoning Paradigm: New Insights in Intellectually Disabled Patients by Curie, Aurore, Brun, Amandine, Cheylus, Anne, Reboul, Anne, Nazir, Tatjana, Bussy, Gérald, Delange, Karine, Paulignan, Yves, Mercier, Sandra, David, Albert, Marignier, Stéphanie, Merle, Lydie, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Mortemousque, Isabelle, Toutain, Annick, Bieth, Eric, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Kong, Jian, Ott, Daniel, Kassai, Behrouz, Hadjikhani, Nouchine, Gollub, Randy L., des Portes, Vincent

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TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex by Kingswood, John C, Bruzzi, Paolo, Curatolo, Paolo, de Vries, Petrus J, Fladrowski, Carla, Hertzberg, Christoph, Jansen, Anna C, Jozwiak, Sergiusz, Nabbout, Rima, Sauter, Matthias, Touraine, Renaud, O’Callaghan, Finbar, Zonnenberg, Bernard, Crippa, Stefania, Comis, Silvia, d’Augères, Guillaume Beaure, Belousova, Elena, Carter, Tom, Cottin, Vincent, Dahlin, Maria, Ferreira, José Carlos, Macaya, Alfons, Benedik, Mirjana Perkovic, Sander, Valentin, Youroukos, Sotirios, Castellana, Ramon, Ulker, Bulent, Feucht, Martha

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Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study by Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C.

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Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project by de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, D’Amato, Lisa, Beure d’Augères, Guillaume, Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, J. Chris, Jansen, Anna C.

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Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry by Nabbout, Rima, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, Beaure d'Augères, Guillaume, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, O'Callaghan, Finbar, Qin, Jiong, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C., Kingswood, J. Chris

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The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome by Sailani, M. Reza, Makrythanasis, Periklis, Valsesia, Armand, Santoni, Federico A., Deutsch, Samuel, Popadin, Konstantin, Borel, Christelle, Migliavacca, Eugenia, Sharp, Andrew J., Duriaux Sail, Genevieve, Falconnet, Emilie, Rabionet, Kelly, Serra-Juhé, Clara, Vicari, Stefano, Laux, Daniela, Grattau, Yann, Dembour, Guy, Megarbane, Andre, Touraine, Renaud, Stora, Samantha, Kitsiou, Sofia, Fryssira, Helena, Chatzisevastou-Loukidou, Chariklia, Kanavakis, Emmanouel, Merla, Giuseppe, Bonnet, Damien, Pérez-Jurado, Luis A., Estivill, Xavier, Delabar, Jean M., Antonarakis, Stylianos E.

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TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients by Kingswood, John C., d’Augères, Guillaume B., Belousova, Elena, Ferreira, José C., Carter, Tom, Castellana, Ramon, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, de Vries, Petrus J., Feucht, Martha, Fladrowski, Carla, Gislimberti, Gabriella, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Nabbout, Rima, O’Callaghan, Finbar, Benedik, Mirjana P., Qin, Jiong, Marques, Ruben, Sander, Valentin, Sauter, Matthias, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.

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TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study by de Vries, Petrus J., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’Amato, Lisa, d’Augères, Guillaume B., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Kingswood, J. Chris, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C.

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Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study by Nabbout, Rima, Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D´Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna, Kingswood, John C.

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Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness by Kingswood, J Chris, Belousova, Elena, Benedik, Mirjana P, Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D’ Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J, Ferreira, José C, Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A, Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O’Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Jansen, Anna C

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Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex by Jansen, Anna C., Belousova, Elena, Benedik, Mirjana P., Carter, Tom, Cottin, Vincent, Curatolo, Paolo, Dahlin, Maria, D'Amato, Lisa, d'Augères, Guillaume Beaure, de Vries, Petrus J., Ferreira, José C., Feucht, Martha, Fladrowski, Carla, Hertzberg, Christoph, Jozwiak, Sergiusz, Lawson, John A., Macaya, Alfons, Marques, Ruben, Nabbout, Rima, O'Callaghan, Finbar, Qin, Jiong, Sander, Valentin, Sauter, Matthias, Shah, Seema, Takahashi, Yukitoshi, Touraine, Renaud, Youroukos, Sotiris, Zonnenberg, Bernard, Kingswood, John C.

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