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6 results on '"PIARD, Juliette"'

1. Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, Héron, Delphine, Gaillon, Thierry, Moldovan, Oana, Rossi, Massimiliano, Devillard, Françoise, Giuliano, Fabienne, Soares, Gabriela, Mathieu-Dramard, Michelle, Afenjar, Alexandra, Charles, Perrine, Mignot, Cyril, Burglen, Lydie, Van Maldergem, Lionel, Piard, Juliette, Aftimos, Salim, Mancini, Grazia, Dias, Patricia, Philip, Nicole, Goldenberg, Alice, Le Merrer, Martine, Rio, Marlène, Josifova, Dragana, Van Hagen, Johanna Maria, Lacombe, Didier, Edery, Patrick, Dupuis-Girod, Sophie, Putoux, Audrey, Sanlaville, Damien, Fischer, Richard, Drévillon, Loïc, Briand-Suleau, Audrey, Metay, Corinne, Goossens, Michel, Amiel, Jeanne, Jacquette, Aurelia, and Giurgea, Irina

Published
2012
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2. Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy

Author

Liu, Hui, primary, Giguet‐Valard, Anna‐Gaëlle, additional, Simonet, Thomas, additional, Szenker‐Ravi, Emmanuelle, additional, Lambert, Laetitia, additional, Vincent‐Delorme, Catherine, additional, Scheidecker, Sophie, additional, Fradin, Mélanie, additional, Morice‐Picard, Fanny, additional, Naudion, Sophie, additional, Ciorna‐Monferrato, Viorica, additional, Colin, Estelle, additional, Fellmann, Florence, additional, Blesson, Sophie, additional, Jouk, Pierre‐Simon, additional, Francannet, Christine, additional, Petit, Florence, additional, Moutton, Sébastien, additional, Lehalle, Daphné, additional, Chassaing, Nicolas, additional, El Zein, Loubna, additional, Bazin, Anne, additional, Bénéteau, Claire, additional, Attié‐Bitach, Tania, additional, Hanu, Sylvie M., additional, Brechard, Marie‐Pierre, additional, Chiesa, Jean, additional, Pasquier, Laurent, additional, Rooryck, Caroline, additional, Van Maldergem, Lionel, additional, Cabrol, Christelle, additional, El Chehadeh, Salima, additional, Vasiljevic, Alexandre, additional, Isidor, Bertrand, additional, Abel, Carine, additional, Thevenon, Julien, additional, Di Filippo, Sylvie, additional, Vigouroux‐Castera, Adeline, additional, Attia, Jocelyne, additional, Quelin, Chloé, additional, Odent, Sylvie, additional, Piard, Juliette, additional, Giuliano, Fabienne, additional, Putoux, Audrey, additional, Khau Van Kien, Philippe, additional, Yardin, Catherine, additional, Touraine, Renaud, additional, Reversade, Bruno, additional, and Bouvagnet, Patrice, additional

Published
2020
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3. Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy

Author

Janin, Alexandre, primary, Chanavat, Valérie, additional, Rollat‐Farnier, Pierre‐Antoine, additional, Bardel, Claire, additional, Nguyen, Karine, additional, Chevalier, Philippe, additional, Eicher, Jean‐Christophe, additional, Faivre, Laurence, additional, Piard, Juliette, additional, Albert, Emma, additional, Nony, Severine, additional, and Millat, Gilles, additional

Published
2019
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4. Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

Author

Janin, Alexandre, Chanavat, Valérie, Rollat‐Farnier, Pierre‐Antoine, Bardel, Claire, Nguyen, Karine, Chevalier, Philippe, Eicher, Jean‐Christophe, Faivre, Laurence, Piard, Juliette, Albert, Emma, Nony, Severine, and Millat, Gilles

Abstract

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, historically believed to affect 1 of 500 people. MYBPC3 pathogenic variations are the most frequent cause of familial HCM and more than 90% of them introduce a premature termination codon. The current study aims to determine the prevalence of deep intronic MYBPC3 pathogenic variations that could lead to splice mutations. To improve molecular diagnosis, a next‐generation sequencing (NGS) workflow based on whole MYBPC3 sequencing of a cohort of 93 HCM patients, for whom no putatively causative point mutations were identified after NGS sequencing of a panel of 48 cardiomyopathy‐causing genes, was performed. Our approach led us to reconsider the molecular diagnosis of six patients of the cohort (6.5%). These HCM probands were carriers of either a new large MYBPC3 rearrangement or splice intronic variations (five cases). Four pathogenic intronic variations, including three novel ones, were detected. Among them, the prevalence of one of them (NM_000256.3:c.1927+ 600 C>T) was estimated at about 0.35% by the screening of 1,040 unrelated HCM individuals. This study suggests that deep MYBPC3 splice mutations account for a significant proportion of HCM cases (6.5% of this cohort). Consequently, NGS sequencing of MYBPC3 intronic sequences have to be performed systematically. [ABSTRACT FROM AUTHOR]

Published
2020
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5. Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function

Author

Ruaud, Lyse, primary, Rice, Gillian I., additional, Cabrol, Christelle, additional, Piard, Juliette, additional, Rodero, Mathieu, additional, van Eyk, Lien, additional, Boucher-Brischoux, Elise, additional, de Noordhout, Alain Maertens, additional, Maré, Ricardo, additional, Scalais, Emmanuel, additional, Pauly, Fernand, additional, Debray, François-Guillaume, additional, Dobyns, William, additional, Uggenti, Carolina, additional, Park, Ji Woo, additional, Hur, Sun, additional, Livingston, John H., additional, Crow, Yanick J., additional, and Van Maldergem, Lionel, additional

Published
2018
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6. Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

Author

Whalen, Sandra, primary, Héron, Delphine, additional, Gaillon, Thierry, additional, Moldovan, Oana, additional, Rossi, Massimiliano, additional, Devillard, Françoise, additional, Giuliano, Fabienne, additional, Soares, Gabriela, additional, Mathieu-Dramard, Michelle, additional, Afenjar, Alexandra, additional, Charles, Perrine, additional, Mignot, Cyril, additional, Burglen, Lydie, additional, Van Maldergem, Lionel, additional, Piard, Juliette, additional, Aftimos, Salim, additional, Mancini, Grazia, additional, Dias, Patricia, additional, Philip, Nicole, additional, Goldenberg, Alice, additional, Le Merrer, Martine, additional, Rio, Marlène, additional, Josifova, Dragana, additional, Van Hagen, Johanna Maria, additional, Lacombe, Didier, additional, Edery, Patrick, additional, Dupuis-Girod, Sophie, additional, Putoux, Audrey, additional, Sanlaville, Damien, additional, Fischer, Richard, additional, Drévillon, Loïc, additional, Briand-Suleau, Audrey, additional, Metay, Corinne, additional, Goossens, Michel, additional, Amiel, Jeanne, additional, Jacquette, Aurelia, additional, and Giurgea, Irina, additional

Published
2011
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