Search Results - "Consolino, Emilie"

Revisiting Li-Fraumeni Syndrome From TP53 Mutation Carriers by Bougeard, Gaëlle, Renaux-Petel, Mariette, Flaman, Jean-Michel, Charbonnier, Camille, Fermey, Pierre, Belotti, Muriel, Gauthier-Villars, Marion, Stoppa-Lyonnet, Dominique, Consolino, Emilie, Brugières, Laurence, Caron, Olivier, Benusiglio, Patrick R, Bressac-de Paillerets, Brigitte, Bonadona, Valérie, Bonaïti-Pellié, Catherine, Tinat, Julie, Baert-Desurmont, Stéphanie, Frebourg, Thierry

“…The aim of the study was to update the description of Li-Fraumeni syndrome (LFS), a remarkable cancer predisposition characterized by extensive clinical…”
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Improving genetic testing pathways for transthyretin amyloidosis in France: challenges and strategies by Hebrard, Bérénice, Babonneau, Marie-Lise, Charron, Philippe, Consolino, Emilie, Dauriat, Benjamin, Dupin-Deguine, Delphine, Fargeaud, Dominique, Farrugia, Agnès, Giguet-Valard, Anna-Gaëlle, Guijarro, Damien, Inamo, Jocelyn, Jeanneteau, Julien, Mazzella, Jean-Michaël, Michon, Claire-Cécile, Millat, Gilles, Mouquet, Frédéric, Oghina, Silvia, Pereon, Yann, Poinsignon, Vianney, Pompougnac, Julie, Proukhnitzky, Julie, Schaefer, Elise, Sturtz, Franck, Trosdorf, Mathilde, Auguste, Anne, Canali, Giorgia, Combes, Alexandre, Funalot, Benoît, Damy, Thibaud

“…Transthyretin amyloidosis (ATTR) is a severe and rare disease characterized by the progressive deposition of misfolded transthyretin proteins, causing…”
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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy: Experience of a Multicentric Study of 200 French Patients by Nguyen, Karine, Roche, Stéphane, Donal, Erwan, Odent, Sylvie, Eicher, Jean-Christophe, Faivre, Laurence, Millat, Gilles, Salgado, David, Desvignes, Jean-Pierre, Lavoute, Cécile, Haentjens, Julie, Consolino, Émilie, Janin, Alexandre, Cerino, Mathieu, Réant, Patricia, Rooryck, Caroline, Charron, Philippe, Richard, Pascale, Casalta, Anne-Claire, Michel, Nicolas, Magdinier, Frédérique, Béroud, Christophe, Lévy, Nicolas, Habib, Gilbert

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Cleft lip, cleft palate, hereditary diffuse gastric cancer and germline mutations in CDH1 by Benusiglio, Patrick R., Caron, Olivier, Consolino, Emilie, Duvillard, Pierre, Coulet, Florence, Blayau, Martine, Malka, David

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Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants by Janin, Alexandre, Perouse de Montclos, Thomas, Nguyen, Karine, Consolino, Emilie, Nadeau, Gwenael, Rey, Gaelle, Bouchot, Océane, Blanchet, Patricia, Sabbagh, Quentin, Cazeneuve, Cécile, El-Malti, Rajae, Morel, Elodie, Delinière, Antoine, Chevalier, Philippe, Millat, Gilles

“…Background and Objective Pediatric cardiomyopathies are clinically heterogeneous heart muscle disorders associated with significant morbidity and mortality for…”
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Oncogénétique colorectale: acquis récents by CARON, Olivier, CONSOLINO, Emilie, BYRDE, Véronique, BRESSAC-DE PAILLERETS, Brigitte, MALKA, David

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Whole Exome Sequencing Reveals a Large Genetic Heterogeneity and Revisits the Causes of Hypertrophic Cardiomyopathy by Nguyen, Karine, Roche, Stéphane, Donal, Erwan, Odent, Sylvie, Eicher, Jean-Christophe, Faivre, Laurence, Millat, Gilles, Salgado, David, Desvignes, Jean-Pierre, Lavoute, Cécile, Haentjens, Julie, Consolino, Émilie, Janin, Alexandre, Cerino, Mathieu, Réant, Patricia, Rooryck, Caroline, Charron, Philippe, Richard, Pascale, Casalta, Anne-Claire, Michel, Nicolas, Magdinier, Frédérique, Béroud, Christophe, Lévy, Nicolas, Habib, Gilbert

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