Ohcanbohtosat - Gerard Bénédicte

Aiddostahte ozu
  1. 1
    PTHR1 mutations associated with Ollier disease result in receptor loss of function

    PTHR1 mutations associated with Ollier disease result in receptor loss of function Dahkki Couvineau, Alain, Wouters, Vinciane, Bertrand, Guylène, Rouyer, Christiane, Gérard, Bénédicte, Boon, Laurence M., Grandchamp, Bernard, Vikkula, Miikka, Silve, Caroline

    Almmustuhtton 2008
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  2. 2
    Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE)

    Genetic generalized epilepsy and generalized onset seizures with focal evolution (GOFE) Dahkki Lamy, Florian, Valenti-Hirsch, Maria-Paola, Gauer, Lucas, Gérard, Bénédicte, Obeid, Mohamed, de Saint-Martin, Anne, Dinkelacker, Vera, Baer, Sarah, Hirsch, Edouard

    Almmustuhtton 2022
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  3. 3
    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome

    3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome Dahkki Dupont, Celine, Bucourt, Martine, Guimiot, Fabien, Kraoua, Lilia, Smiljkovski, Daniel, Le Tessier, Dominique, Lebugle, Camille, Gerard, Benedicte, Spaggiari, Emmanuel, Bourdoncle, Pierre, Tabet, Anne-Claude, Benzacken, Brigitte, Dupont, Jean-Michel

    Almmustuhtton 2014
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  4. 4
    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders

    Assessment of a Targeted Gene Panel for Identification of Genes Associated With Movement Disorders Dahkki Montaut, Solveig, Tranchant, Christine, Drouot, Nathalie, Rudolf, Gabrielle, Guissart, Claire, Tarabeux, Julien, Stemmelen, Tristan, Velt, Amandine, Fourrage, Cécile, Nitschké, Patrick, Gerard, Bénédicte, Mandel, Jean-Louis, Koenig, Michel, Chelly, Jamel, Anheim, Mathieu

    Almmustuhtton 2018
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  5. 5
    Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

    Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Dahkki Rinaldi, Berardo, Ge, Yu-Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia-Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

    Almmustuhtton 2021
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  6. 6
    Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene

    Correction to: Myoclonic status epilepticus and cerebellar hypoplasia associated with a novel variant in the GRIA3 gene Dahkki Rinaldi, Berardo, Ge, Yu‑Han, Freri, Elena, Tucci, Arianna, Granata, Tiziana, Estienne, Margherita, Sun, Jia‑Hui, Gérard, Bénédicte, Bayat, Allan, Efthymiou, Stephanie, Gervasini, Cristina, Shi, Yun Stone, Houlden, Henry, Marchisio, Paola, Milani, Donatella

    Almmustuhtton 2021
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  7. 7
    X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3

    X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3 Dahkki Sun, Jia-Hui, Chen, Jiang, Ayala Valenzuela, Fernando Eduardo, Brown, Carolyn, Masser-Frye, Diane, Jones, Marilyn, Romero, Leslie Patron, Rinaldi, Berardo, Li, Wenhui Laura, Li, Qing-Qing, Wu, Dan, Gerard, Benedicte, Thorpe, Erin, Bayat, Allan, Shi, Yun Stone

    Almmustuhtton 2021
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  8. 8
    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus

    MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus Dahkki Blanchet, Patricia, Bebin, Martina, Bruet, Shaam, Cooper, Gregory M., Thompson, Michelle L., Duban-Bedu, Benedicte, Gerard, Benedicte, Piton, Amelie, Suckno, Sylvie, Deshpande, Charu, Clowes, Virginia, Vogt, Julie, Turnpenny, Peter, Williamson, Michael P., Alembik, Yves, Glasgow, Eric, McNeill, Alisdair

    Almmustuhtton 2017
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  9. 9
    Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder

    Novel missense mutations in PTCHD1 alter its plasma membrane subcellular localization and cause intellectual disability and autism spectrum disorder Dahkki Halewa, Judith, Marouillat, Sylviane, Dixneuf, Manon, Thépault, Rose‐Anne, Ung, Dévina C., Chatron, Nicolas, Gérard, Bénédicte, Ghoumid, Jamal, Lesca, Gaëtan, Till, Marianne, Smol, Thomas, Couque, Nathalie, Ruaud, Lyse, Chune, Valérie, Grotto, Sarah, Verloes, Alain, Vuillaume, Marie‐Laure, Toutain, Annick, Raynaud, Martine, Laumonnier, Frédéric

    Almmustuhtton 2021
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  10. 10
    Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

    Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Dahkki Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène

    Almmustuhtton 2022
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  11. 11
    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

    20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition Dahkki Piton, Amélie, Poquet, Hélène, Redin, Claire, Masurel, Alice, Lauer, Julia, Muller, Jean, Thevenon, Julien, Herenger, Yvan, Chancenotte, Sophie, Bonnet, Marlène, Pinoit, Jean-Michel, Huet, Frédéric, Thauvin-Robinet, Christel, Jaeger, Anne-Sophie, Le Gras, Stéphanie, Jost, Bernard, Gérard, Bénédicte, Peoc'h, Katell, Launay, Jean-Marie, Faivre, Laurence, Mandel, Jean-Louis

    Almmustuhtton 2014
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  12. 12
    Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis

    Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis Dahkki 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

    Almmustuhtton 2018
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  13. 13
    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development

    Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development Dahkki Ivanova, Ekaterina L., Mau-Them, Frédéric Tran, Riazuddin, Saima, Kahrizi, Kimia, Laugel, Vincent, Schaefer, Elise, de Saint Martin, Anne, Runge, Karen, Iqbal, Zafar, Spitz, Marie-Aude, Laura, Mary, Drouot, Nathalie, Gérard, Bénédicte, Deleuze, Jean-François, de Brouwer, Arjan P.M., Razzaq, Attia, Dollfus, Hélène, Assir, Muhammad Zaman, Nitchké, Patrick, Hinckelmann, Maria-Victoria, Ropers, Hilger, Riazuddin, Sheikh, Najmabadi, Hossein, van Bokhoven, Hans, Chelly, Jamel

    Almmustuhtton 2017
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  14. 14
    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes

    De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes Dahkki Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth

    Almmustuhtton 2019
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  15. 15
    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism

    Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism Dahkki Hyung‐Goo Kim, Jill A. Rosenfeld, Daryl A. Scott, Gerard Bénédicte, Jonathan D. J. Labonne, Jason Brown, Marianne McGuire, Sonal Mahida, Sakkubai Naidu, Jacqueline Gutierrez, Gaëtan Lesca, Vincent des Portes, Ange-Line Bruel, Arthur Sorlin, Fan Xia, Yline Capri, Eric Muller, Dianalee McKnight, Erin Torti, Franz Rüschendorf, Oliver Hummel, Zeyaul Islam, Prasanna R. Kolatkar, Lawrence C. Layman, Duchwan Ryu, Il‐Keun Kong, Suneeta Madan‐Khetarpal, Cheol‐Hee Kim

    Almmustuhtton 2019
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  16. 16
    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

    Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency Dahkki Saunier, Chloé, Støve, Svein Isungset, Popp, Bernt, Gérard, Bénédicte, Blenski, Marina, AhMew, Nicholas, de Bie, Charlotte, Goldenberg, Paula, Isidor, Bertrand, Keren, Boris, Leheup, Bruno, Lampert, Laetitia, Mignot, Cyril, Tezcan, Kamer, Mancini, Grazia M.S., Nava, Caroline, Wasserstein, Melissa, Bruel, Ange‐Line, Thevenon, Julien, Masurel, Alice, Duffourd, Yannis, Kuentz, Paul, Huet, Frédéric, Rivière, Jean‐Baptiste, van Slegtenhorst, Marjon, Faivre, Laurence, Piton, Amélie, Reis, André, Arnesen, Thomas, Thauvin‐Robinet, Christel, Zweier, Christiane

    Almmustuhtton 2016
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  17. 17
    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

    Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome Dahkki Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie

    Almmustuhtton 2017
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  18. 18
    TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study

    TSPEAR variants are primarily associated with ectodermal dysplasia and tooth agenesis but not hearing loss: A novel cohort study Dahkki Bowles, Bradley, Ferrer, Alejandro, Nishimura, Carla J., Pinto e Vairo, Filippo, Rey, Tristan, Leheup, Bruno, Sullivan, Jennifer, Schoch, Kelly, Stong, Nicholas, Agolini, Emanuele, Cocciadiferro, Dario, Williams, Abigail, Cummings, Alex, Loddo, Sara, Genovese, Silvia, Roadhouse, Chelsea, McWalter, Kirsty, Wentzensen, Ingrid M., Li, Chumei, Babovic‐Vuksanovic, Dusica, Lanpher, Brendan C., Dentici, Maria Lisa, Ankala, Arun, Hamm, J. Austin, Dallapiccola, Bruno, Radio, Francesca Clementina, Shashi, Vandana, Gérard, Benedicte, Bloch‐Zupan, Agnes, Smith, Richard J., Klee, Eric W.

    Almmustuhtton 2021
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  19. 19
    The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

    The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol Dahkki Lejeune, Catherine, Robert-Viard, Charley, Meunier-Beillard, Nicolas, Borel, Myriam Alice, Gourvès, Léna, Staraci, Stéphanie, Soilly, Anne-Laure, Guillemin, Francis, Seror, Valerie, Achit, Hamza, Bouctot, Marion, Asensio, Marie-Laure, Briffaut, Anne-Sophie, Delmas, Christelle, Bruel, Ange-Line, Benoit, Alexia, Simon, Alban, Gerard, Bénédicte, Hadj Abdallah, Hamza, Lyonnet, Stanislas, Faivre, Laurence, Thauvin-Robinet, Christel, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Muller, Jean, Duffourd, Yannis, Boland, Anne, Deleuze, Jean-François, Espérou, Hélène, Binquet, Christine, Dollfus, Hélène

    Almmustuhtton 2022
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  20. 20
    Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

    Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20 Dahkki Juven, Aurélien, Nambot, Sophie, Piton, Amélie, Jean-Marçais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlène, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Élise, Gérard, Bénédicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cédric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denommé-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, Faivre, Laurence

    Almmustuhtton 2020
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